Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
paper
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- Authors
- Miller, David T; Adam, Margaret P; Aradhya, Swaroop; Biesecker, Leslie G; Brothman, Arthur R; Carter, Nigel P; Church, Deanna M; Crolla, John A; Eichler, Evan E; Epstein, Charles J; Faucett, W Andrew; Feuk, Lars; Friedman, Jan M; Hamosh, Ada; Jackson, Laird; Kaminsky, Erin B; Kok, Klaas; Krantz, Ian D; Kuhn, Robert M; Lee, Charles; Ostell, James M; Rosenberg, Carla; Scherer, Stephen W; Spinner, Nancy B; Stavropoulos, Dimitri J; Tepperberg, James H; Thorland, Erik C; Vermeesch, Joris R; Waggoner, Darrel J; Watson, Michael S; Martin, Christa Lese; Ledbetter, David H
- Year
- 2010
- Journal
- American journal of human genetics
- PMID
- 20466091
- DOI
- 10.1016/j.ajhg.2010.04.006
- PMCID
- PMC2869000
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype ( approximately 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.
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| Chromosomal Microarray: Still Relevant in NGS Era. | Agarwal M | β | 2026 | β |
| Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns. | Choi N et al. | β | 2026 | β |
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| Comparative Genomic Hybridization (CGH) in Genotoxicology: From the Basics to Modern Approaches. | Nisar N et al. | β | 2026 | β |
| Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial. | Hayeems RZ et al. | β | 2026 | β |
| Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. | Tengsujaritkul M et al. | β | 2026 | β |
| Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies. | Sanri A et al. | β | 2026 | β |
| Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients. | Lall MB et al. | β | 2026 | β |
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| First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. | Kerkeni N et al. | β | 2026 | β |
| Genetic analysis of chromosome 2 copy-neutral loss of heterozygosity in paternity testing. | Xu G et al. | β | 2026 | β |
| Genetic Testing History in Adults With Autism Spectrum Disorder. | Mierau SB et al. | β | 2026 | β |
| Improving CNV Detection Performance Except for Software-Specific Problematic Regions. | Hwang J et al. | β | 2026 | β |
| International guideline on genetic testing of children with short stature. | Dauber A et al. | β | 2026 | β |
| Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion. | Kawamura R et al. | β | 2026 | β |
| Maternal copy number variations detected by noninvasive prenatal testing in Japanese women. | Masuda K et al. | β | 2026 | β |
| Neurodevelopmental Assessment, EEG Findings and Epilepsy in Children With Autism Spectrum Disorder: A Retrospective Study. | Didinmez TaΕkΔ±rdΔ± E et al. | β | 2026 | β |
| Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome. | Szumutku F et al. | β | 2026 | β |
| Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects. | Durbin MD et al. | β | 2026 | β |
| Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores. | Vaez M et al. | β | 2026 | β |
| RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: A systematic review. | Rosenblum J et al. | β | 2026 | β |
| Whole exome sequencing: a new era in prenatal diagnostics. | Shi P et al. | β | 2026 | β |
| Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery. | Awuah WA et al. | β | 2025 | β |
| A retrospective analysis of 6942 amniocentesis cases. | An Q et al. | β | 2025 | β |
| Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements. | Hu X et al. | β | 2025 | β |
| Challenging Case: 2 Year Old With "Autistic Behaviors". | Harris BA et al. | β | 2025 | β |
| Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications. | Pandey H et al. | β | 2025 | β |
| Chromosome 15q Structural Variants Associated with Syndromic Autism Spectrum Disorder: Clinical and Genomic Insights from Three Case Reports in a Brazilian Reference Center. | Gigonzac TCV et al. | β | 2025 | β |
| Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing. | BlΓ‘zquez A et al. | β | 2025 | β |
| Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program. | Balci TB et al. | β | 2025 | β |
| Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders. | Valaparambil KA et al. | β | 2025 | β |
| Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases. | Sivakumaran TA et al. | β | 2025 | β |
| Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory. | Zhu Y et al. | β | 2025 | β |
| Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome. | Silva C et al. | β | 2025 | β |
| Complex de novo structural variants are an underestimated cause of rare disorders. | Jung H et al. | β | 2025 | β |
| Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss. | Bao X et al. | β | 2025 | β |
| Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case. | Salvo E et al. | β | 2025 | β |
| Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract. | Stoll C et al. | β | 2025 | β |
| Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. | Hahn E et al. | β | 2025 | β |
| Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing. | Li W et al. | β | 2025 | β |
| Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation. | Cui L et al. | β | 2025 | β |
| Current and future diagnostics of congenital heart disease (CHD). | Hitz MP et al. | β | 2025 | β |
| Current landscape of clinical genetics knowledge and attitudes among Non-Geneticist Physicians - the McGill genetics education survey (McGES). | Abdullah-Maklan S et al. | β | 2025 | β |
| Cytogenetics and Cytogenomics in Clinical Diagnostics: Genome Architecture, Structural Variants, and Translational Applications. | Federico C et al. | β | 2025 | β |
| Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42Β years of experience at a single-site institution. | Madison A et al. | β | 2025 | β |
| Detection of Chromosomal Aneuploidy Using Exome Sequencing. | Al-Hamed MH et al. | β | 2025 | β |
| Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage. | Chau MHK et al. | β | 2025 | β |
| Diagnostic Accuracy and Chromosomal Microarray and Karyotype Analysis with Different Clinical Biomarkers for Prenatal Diagnosis of Fetal Genetic Diseases. | Cai F et al. | β | 2025 | β |
| Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders. | Lan X et al. | β | 2025 | β |
| Diagnostic yield of array-CGH in children with suspected rare disease. | Criado-Muriel MC et al. | β | 2025 | β |
| Diagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis. | Feng X et al. | β | 2025 | β |
| Distal 1q Duplication and Distal 9p Deletion: A Follow-Up Case Report and Literature Review on Candidate Genes for 9p Deletion Syndrome. | Helbig J et al. | β | 2025 | β |
| Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma. | Ngamsangiam W et al. | β | 2025 | β |
| Diversity and consequences of structural variation in the human genome. | Collins RL et al. | β | 2025 | β |
| Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions. | Chawner SJRA | β | 2025 | β |
| Effectiveness and Clinical Outcomes of PGT-M Using Karyomapping for Successful Pregnancy and Birth in Various Types of Charcot-Marie-Tooth Disease. | Han G et al. | β | 2025 | β |
| Evaluating parental satisfaction and empowerment with genetic testing in the Neonatal Intensive Care Unit (NICU). | Kim S et al. | β | 2025 | β |
| Evaluation of Genomic Proximity Mapping for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders. | Fang H et al. | β | 2025 | β |
| Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness? | Degeling K et al. | β | 2025 | β |
| Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review. | Sun W et al. | β | 2025 | β |
| Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies. | Cogan G et al. | β | 2025 | β |
| Functional Characterization of a Novel <i>PBX1</i> De Novo Missense Variant Identified in a Pediatric Patient with CAKUT. | Scolari C et al. | β | 2025 | β |
| Genetic and Sonographic Insights into First-Trimester Fetal Cystic Hygroma: A Retrospective 30-Year Analysis Using 3D/4D Ultrasound and Cytogenetic Evaluation in Croatia (1993-2023). | Podobnik P et al. | β | 2025 | β |
| Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD. | Lob K et al. | β | 2025 | β |
| Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. | Rodan LH et al. | β | 2025 | β |
| Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG. | Dubois AEE et al. | β | 2025 | β |
| Genetic Testing Among Medicaid-Insured Children With Autism and Intellectual Disability. | Brown TR et al. | β | 2025 | β |
| Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis. | Chang YM et al. | β | 2025 | β |
| Genetic Testing of Neurodevelopmental Disorders in Israel. | May D et al. | β | 2025 | β |
| Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort. | Akter H et al. | β | 2025 | β |
| Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic. | Besterman AD et al. | β | 2025 | β |
| Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report. | Scheuerle AE et al. | β | 2025 | β |
| How Structural Variations Influence Crop Improvement. | Wang X et al. | β | 2025 | β |
| How Useful Are Instrumental Examinations in Newly Diagnosed Children with ASD? Insights from Real-World Practice. | Barbosa de Matos M et al. | β | 2025 | β |
| Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing. | Forghani I et al. | β | 2025 | β |
| Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing. | Jiang L et al. | β | 2025 | β |
| Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis. | Kao HJ et al. | β | 2025 | β |
| Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease. | Penaloza JS et al. | β | 2025 | β |
| Identifying characteristics associated with genetic testing in the NICU. | Rumsey M et al. | β | 2025 | β |
| Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder. | Harrington CN et al. | β | 2025 | β |
| Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing. | Harris S et al. | β | 2025 | β |
| Integration of Newer Genomic Technologies into Clinical Cytogenetics Laboratories. | Gonzales PR | β | 2025 | β |
| Japanese pediatric neurologist's decision regarding genetic testing for patients with developmental delay/intellectual disability: A nationwide survey. | Okazaki T et al. | β | 2025 | β |
| JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease. | Imai Y et al. | β | 2025 | β |
| <i>PSG</i> and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning. | Surimova V et al. | β | 2025 | β |
| Mainstreaming Diagnostic Genetic Testing and Precision Medicine for Autism Spectrum Disorder: The Role of Child and Adolescent Psychiatrists. | Ledbetter DH et al. | β | 2025 | β |
| Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort. | Hoang TL et al. | β | 2025 | β |
| Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectual disability and autism spectrum disorder. | Brown TR et al. | β | 2025 | β |
| Monogenic defects in Russian children with autism spectrum disorders. | Suspitsin EN et al. | β | 2025 | β |
| "My child can't see"-workup and management of children with low vision: a joint workshop of the AAPOS Low Vision Rehabilitation and Genetic Eye Diseases Committees. | Ditta L et al. | β | 2025 | β |
| Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies. | Groopman E et al. | β | 2025 | β |
| Navigating women with congenital heart disease during pregnancy: Management strategies and future directions. | Das BB et al. | β | 2025 | β |
| New evidence supporting female protective effect in patients with congenital anomalies and neurodevelopmental disorders. | Maksimovic N et al. | β | 2025 | β |
| OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities. | Raeisi Dehkordi S et al. | β | 2025 | β |
| One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking. | Osmond M et al. | β | 2025 | β |
| Optical Genome Mapping: A New Tool for Cytogenomic Analysis. | Levy B et al. | β | 2025 | β |
| Paired copy number variation analysis in siblings discordant for familial Parkinson's disease. | Atay S et al. | β | 2025 | β |
| Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study. | Yin L et al. | β | 2025 | β |
| Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study. | Khoodoruth MAS et al. | β | 2025 | β |
| Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights. | Ghalamkari S et al. | β | 2025 | β |
| Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine. | Kansal R | β | 2025 | β |
| Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions. | Liehr T et al. | β | 2025 | β |
| Selective Feticide in a Dichorionic Twin Pregnancy After IVF Following Diagnosis of Trisomy 21 in One Twin: A Case Report. | Muracevic-Begovic B et al. | β | 2025 | β |
| Self-Reported Access to Specialized Genetics Providers Among Families of Young Children With Birth Defects in Texas. | Betancourt D et al. | β | 2025 | β |
| Should newborn genetic testing for autism be introduced? | Aishworiya R et al. | β | 2025 | β |
| Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics. | Pande S et al. | β | 2025 | β |
| Submicroscopic copy number variants in Indian children with gene panel negative 46, XY Gonadal Dysgenesis: An exploratory study using comparative genomic hybridization. | Priyadarshini S et al. | β | 2025 | β |
| The CAP/ACMG CYCGH proficiency testing program: 10 years in review. | Akkari Y et al. | β | 2025 | β |
| The diagnostic yield of molecular karyotyping: a retrospective single-center study. | GΓΆktaΕ E et al. | β | 2025 | β |
| The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability. | Pang N et al. | β | 2025 | β |
| The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review. | Cook CB et al. | β | 2025 | β |
| Toward clinical long-read genome sequencing for rare diseases. | Eisfeldt J et al. | β | 2025 | β |
| Types and Diagnosis of Childhood Intellectual Disabilities: Advancing Accuracy for Better Outcomes. | Babiker R et al. | β | 2025 | β |
| Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing. | Kim JM et al. | β | 2025 | β |
| Unveiling genomic rearrangements in engineered iPSC lines by optical genome mapping. | Finlay D et al. | β | 2025 | β |
| Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience. | Tompa M et al. | β | 2025 | β |
| Utility of Optical Genome Mapping in Repeat Disorders. | Mutlu MB et al. | β | 2025 | β |
| Whole exome sequencing as a screening tool in dogs: A pilot study. | Boeykens F et al. | β | 2025 | β |
| A 25-year odyssey of genomic technology advances and structural variant discovery. | Porubsky D et al. | β | 2024 | β |
| A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD. | Chaves TF et al. | β | 2024 | β |
| Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability. | Pereira SSS et al. | β | 2024 | β |
| An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria. | Wang Y et al. | β | 2024 | β |
| A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples. | Su H et al. | β | 2024 | β |
| A Reversible Etiology of Progressive Motor Decline in a Previously Healthy Child. | Eliav T et al. | β | 2024 | β |
| Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature. | Tolezano GC et al. | β | 2024 | β |
| Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss. | Choi H et al. | β | 2024 | β |
| Chromosomal Duplication Syndromes: A Case Series. | Panigrahi I et al. | β | 2024 | β |
| Clinical and genetic analysis of a case of O<b>'</b>Donnell<b>-</b>Luria<b>-</b>Rodan syndrome manifesting as growth retardation. | Yuan J et al. | β | 2024 | β |
| Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH. | Arroyo-Ruiz R et al. | β | 2024 | β |
| Clinical Cytogenetics: Current Practices and Beyond. | Mathew MT et al. | β | 2024 | β |
| Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses. | Song T et al. | β | 2024 | β |
| Clinical features and genetic analysis of 471 cases of fetal congenital heart disease. | Quan Y et al. | β | 2024 | β |
| Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy. | Pidaparti M et al. | β | 2024 | β |
| Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. | Olayiwola JO et al. | β | 2024 | β |
| Clinical validation of an abbreviated karyotype analysis protocol for fertility evaluation. | Lee E et al. | β | 2024 | β |
| Comparative analysis of the application with the combination of CMA and karyotype in routine and late amniocentesis. | Zheng Y et al. | β | 2024 | β |
| Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study. | Rosina E et al. | β | 2024 | β |
| Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report. | Das S et al. | β | 2024 | β |
| Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review. | Bonati MT et al. | β | 2024 | β |
| Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists. | Aarabi M et al. | β | 2024 | β |
| Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. | Pantel D et al. | β | 2024 | β |
| Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability? | Maden Bedel F et al. | β | 2024 | β |
| CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders. | Asano K et al. | β | 2024 | β |
| Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease. | Oehlman LB et al. | β | 2024 | β |
| Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development | Γzalp KΔ±zΔ±lay D et al. | β | 2024 | β |
| De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. | Pande S et al. | β | 2024 | β |
| Detection and characterization of copy-number variants from exome sequencing in the DDD study. | Danecek P et al. | β | 2024 | β |
| Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples. | Broeckel U et al. | β | 2024 | β |
| Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era. | O'Donovan CJ et al. | β | 2024 | β |
| Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities. | Moradi B et al. | β | 2024 | β |
| Diagnostic findings and yield of investigations for children with developmental regression. | Furley K et al. | β | 2024 | β |
| Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies. | Yang M et al. | β | 2024 | β |
| Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort. | Carrillo YD et al. | β | 2024 | β |
| Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy. | Burk KC et al. | β | 2024 | β |
| Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/Δ±ntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings. | Akkus N et al. | β | 2024 | β |
| Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes. | Huguet G et al. | β | 2024 | β |
| Etiologic Evaluation of Children with Autism Spectrum Disorder. | Lazar SM et al. | β | 2024 | β |
| Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options. | Vos N et al. | β | 2024 | β |
| Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. | Lemire G et al. | β | 2024 | β |
| Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders. | Wayhelova M et al. | β | 2024 | β |
| Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies. | Tolmacheva E et al. | β | 2024 | β |
| Expanding Upon Genomics in Rare Diseases: Epigenomic Insights. | Tan JW et al. | β | 2024 | β |
| Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder. | Garrido-Torres N et al. | β | 2024 | β |
| From genes to therapy: A comprehensive exploration of congenital heart disease through the lens of genetics and emerging technologies. | Nawaz K et al. | β | 2024 | β |
| Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders. | Ranieri A et al. | β | 2024 | β |
| [Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]. | Degenhardt F et al. | β | 2024 | β |
| Genetics and Primary Care: Raising Awareness and Enhancing Cooperation. | Bengur ET et al. | β | 2024 | β |
| Genetic testing for diffuse lung diseases in children. | Hamvas A et al. | β | 2024 | β |
| Genetic Testing History in Adults with Autism Spectrum Disorder | Mierau SB et al. | β | 2024 | β |
| Genome sequencing as a generic diagnostic strategy for rare disease. | Schobers G et al. | β | 2024 | β |
| Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations. | James KN et al. | β | 2024 | β |
| Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design. | Tamura T et al. | β | 2024 | β |
| Genomics of stillbirth. | Giordano JL et al. | β | 2024 | β |
| Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. | D'Souza EE et al. | β | 2024 | β |
| Global developmental delay and a de novo deletion of the 16p13.13 region. | Krakowski A et al. | β | 2024 | β |
| High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics. | Tanabe H et al. | β | 2024 | β |
| Human Genetics of Congenital Heart Defects. | Wilsdon A et al. | β | 2024 | β |
| Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results. | Li S et al. | β | 2024 | β |
| Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing. | Chengyan L et al. | β | 2024 | β |
| Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil. | de Carvalho AFL et al. | β | 2024 | β |
| Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement. | Jacobsmeyer AT et al. | β | 2024 | β |
| Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients. | Zhuang J et al. | β | 2024 | β |
| Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India. | Panigrahi I et al. | β | 2024 | β |
| JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease. | Imai Y et al. | β | 2024 | β |
| Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. | Copeland H et al. | β | 2024 | β |
| Long read sequencing on its way to the routine diagnostics of genetic diseases. | Olivucci G et al. | β | 2024 | β |
| Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome. | Bestetti I et al. | β | 2024 | β |
| Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. | Mazzonetto PC et al. | β | 2024 | β |
| Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting. | Mazzonetto PC et al. | β | 2024 | β |
| Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations. | Poot M | β | 2024 | β |
| Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing. | Sun H et al. | β | 2024 | β |
| Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum. | Atique Tacla M et al. | β | 2024 | β |
| Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain. | Boughalem A et al. | β | 2024 | β |
| Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder. | Rodriguez-Gil JL et al. | β | 2024 | β |
| Optimizing genetic testing strategies for congenital anomalies in Iran. | Calame DG | β | 2024 | β |
| Parental experiences and perspectives of healthcare providers' genetic testing recommendations for their children diagnosed with autism spectrum disorder in the United States. | Zhao S et al. | β | 2024 | β |
| Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study. | Pynaker C et al. | β | 2024 | β |
| Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing. | Wu R et al. | β | 2024 | β |
| Potential clinical applications of advanced genomic analysis in cerebral palsy. | Lewis SA et al. | β | 2024 | β |
| Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study. | Wu CY et al. | β | 2024 | β |
| Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome. | Poch A et al. | β | 2024 | β |
| Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay. | Srivastava P et al. | β | 2024 | β |
| Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone. | Xie X et al. | β | 2024 | β |
| Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. | Srivastava S et al. | β | 2024 | β |
| Systematic reanalysis of copy number losses of uncertain clinical significance. | Burghel GJ et al. | β | 2024 | β |
| The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know. | Ciancia S et al. | β | 2024 | β |
| The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic. | Postma JK et al. | β | 2024 | β |
| The expanding diagnostic toolbox for rare genetic diseases. | Kernohan KD et al. | β | 2024 | β |
| The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. | Pagnamenta AT et al. | β | 2024 | β |
| The Rapid Evaluation of Down Syndrome With Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): A Pilot Study Among the Population in Eastern Uttar Pradesh, India. | Upadhyay M et al. | β | 2024 | β |
| Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies. | Vaseghi P et al. | β | 2024 | β |
| Transcriptional precision in photoreceptor development and diseases - Lessons from 25 years of CRX research. | Zheng Y et al. | β | 2024 | β |
| Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay. | Li C et al. | β | 2024 | β |
| Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment. | Dwivedi R et al. | β | 2024 | β |
| 5p13 microduplication in a malformed fetus and his unaffected father. | Kariminejad A et al. | β | 2023 | β |
| Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. | Streff H et al. | β | 2023 | β |
| A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss. | Liao N et al. | β | 2023 | β |
| A crowdsourcing database for the copy-number variation of the Spanish population. | LΓ³pez-LΓ³pez D et al. | β | 2023 | β |
| A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018. | Lildballe DL et al. | β | 2023 | β |
| A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures. | Zhuang J et al. | β | 2023 | β |
| A de novo variant of BICRA results in Coffin-Siris syndrome 12. | Tu Y et al. | β | 2023 | β |
| Age of diagnosis for children with chromosome 15q syndromes. | Wheeler AC et al. | β | 2023 | β |
| A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease. | Landis BJ et al. | β | 2023 | β |
| A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices. | Durbin MD et al. | β | 2023 | β |
| Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction. | Fujimoto M et al. | β | 2023 | β |
| A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree. | Yu L et al. | β | 2023 | β |
| Applications of artificial intelligence in clinical laboratory genomics. | Aradhya S et al. | β | 2023 | β |
| A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss. | Johansson M et al. | β | 2023 | β |
| Associated anomalies in Pierre Robin sequence. | Stoll C et al. | β | 2023 | β |
| Behavioral and Sensory Deficits Associated with Dysfunction of GABAergic System in a Novel <i>shank2</i>-Deficient Zebrafish Model. | Wang Y et al. | β | 2023 | β |
| Beyond the exome: What's next in diagnostic testing for Mendelian conditions. | Wojcik MH et al. | β | 2023 | β |
| CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder. | Annunziata S et al. | β | 2023 | β |
| Chromosomal Aberrations in Pediatric Patients With Moderate/Severe Developmental Delay/Intellectual Disability With Abundant Phenotypic Heterogeneities: A Single-Center Study. | Wu D et al. | β | 2023 | β |
| Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome. | Innoceta AM et al. | β | 2023 | β |
| Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. | Sandoval-Talamantes AK et al. | β | 2023 | β |
| Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature. | Soliani L et al. | β | 2023 | β |
| Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy. | Gerik-Celebi HB et al. | β | 2023 | β |
| Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. | Jouret G et al. | β | 2023 | β |
| Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot. | Bassett AS et al. | β | 2023 | β |
| Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. | Mustillo PJ et al. | β | 2023 | β |
| Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study. | Ravel JM et al. | β | 2023 | β |
| Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability. | Kim J et al. | β | 2023 | β |
| Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement. | Barseghyan H et al. | β | 2023 | β |
| Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. | Francis DI et al. | β | 2023 | β |
| Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders. | Akter H et al. | β | 2023 | β |
| Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. | Brownstein CA et al. | β | 2023 | β |
| Current Practices in the Evaluation of Global Developmental Delay/Intellectual Disability: A Nationwide Survey of Child Neurologists. | Cole JJ et al. | β | 2023 | β |
| Cytogenetics analysis as the central point of genetic testing in acute myeloid leukemia (AML): a laboratory perspective for clinical applications. | Rosli AA et al. | β | 2023 | β |
| Deciphering complex breakage-fusion-bridge genome rearrangements with Ambigram. | Li C et al. | β | 2023 | β |
| Deciphering Intellectual Disability. | Gupta N | β | 2023 | β |
| Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory. | Lu S et al. | β | 2023 | β |
| Development of a clinical microarray system for genetic analysis screening. | Okamura H et al. | β | 2023 | β |
| Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. | Cucinotta F et al. | β | 2023 | β |
| Elevated risk for developmental disabilities in children with congenital heart defects. | Delgado C et al. | β | 2023 | β |
| Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis. | LΓΌ Y et al. | β | 2023 | β |
| Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability. | AlMutiri R et al. | β | 2023 | β |
| Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication. | Tian W et al. | β | 2023 | β |
| Extended application of BACs-on-Beads technique in prenatal diagnosis. | Sun S et al. | β | 2023 | β |
| Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. | Trizuljak J et al. | β | 2023 | β |
| Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462. | Brady L et al. | β | 2023 | β |
| Gain of CCND1 May Occur Too Infrequently in Cutaneous Melanoma, and Too Late in Melanomagenesis, to Be Diagnostically Useful: Genomic Analysis of 88 Cases. | McFadden JR et al. | β | 2023 | β |
| GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data. | Babadi M et al. | β | 2023 | β |
| Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). | Carter MT et al. | β | 2023 | β |
| Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing. | Shin S et al. | β | 2023 | β |
| Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia. | Sihombing NRB et al. | β | 2023 | β |
| Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices. | Thomas CP et al. | β | 2023 | β |
| Genetic Influences on Fetal Alcohol Spectrum Disorder. | Sambo D et al. | β | 2023 | β |
| Genetic Testing Guidelines Impact Care in Newborns with Congenital HeartΒ Defects. | Durbin MD et al. | β | 2023 | β |
| Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. | Montanucci L et al. | β | 2023 | β |
| Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review. | Ko MH et al. | β | 2023 | β |
| Genomic strategies to untangle the etiology of autism: A primer. | Vashisth S et al. | β | 2023 | β |
| Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas. | Masri AT et al. | β | 2023 | β |
| Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review. | Zhuang J et al. | β | 2023 | β |
| Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49-51 deletion phenotype. | Ulm EA et al. | β | 2023 | β |
| Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. | Bonini KE et al. | β | 2023 | β |
| Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability. | Karim S et al. | β | 2023 | β |
| Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review. | Baine-Savanhu F et al. | β | 2023 | β |
| Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. | Donnelly N et al. | β | 2023 | β |
| Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. | Alvarez-Mora MI et al. | β | 2023 | β |
| Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach. | Goh CJ et al. | β | 2023 | β |
| Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders-an important consideration for resource-constrained settings. | Louw N et al. | β | 2023 | β |
| Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis. | Farrell M et al. | β | 2023 | β |
| Inherited deletion of 9p22.3-p24.3 and duplication of 18p11.31-p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes. | Ajami N et al. | β | 2023 | β |
| Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on <i>FMR1</i> Premutation. | Tassone F et al. | β | 2023 | β |
| KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease. | Nair A et al. | β | 2023 | β |
| Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review. | Zhou M et al. | β | 2023 | β |
| Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read-Depth Based Algorithm. | Mouraux C et al. | β | 2023 | β |
| Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements. | Tamura T et al. | β | 2023 | β |
| Maturity-onset diabetes of the young in a large Portuguese cohort. | Santos Monteiro S et al. | β | 2023 | β |
| Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics. | Forrest MP et al. | β | 2023 | β |
| Molecular Mechanisms Involved in Craniosynostosis. | Yapijakis C et al. | β | 2023 | β |
| Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases. | Racine C et al. | β | 2023 | β |
| Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases. | Iqbal MA et al. | β | 2023 | β |
| Novel mutation causing Zellweger syndrome. | Adiyapatham S et al. | β | 2023 | β |
| Novel SETBP1 mutation in a chinese family with intellectual disability. | Wang L et al. | β | 2023 | β |
| Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study. | Cai M et al. | β | 2023 | β |
| Patient-facing digital tools for delivering genetic services: a systematic review. | Whiwon L et al. | β | 2023 | β |
| Prader-Willi and Angelman Syndromes: Mechanisms and Management. | Ma VK et al. | β | 2023 | β |
| Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield? | Mitrakos A et al. | β | 2023 | β |
| Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study. | Liang B et al. | β | 2023 | β |
| Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes. | Kubota N et al. | β | 2023 | β |
| Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility. | Rather RA et al. | β | 2023 | β |
| Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings. | Wiener EK et al. | β | 2023 | β |
| Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing. | Zhou R et al. | β | 2023 | β |
| Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. | Lowther C et al. | β | 2023 | β |
| Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study. | Hu C et al. | β | 2023 | β |
| The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies. | Vaseghi H et al. | β | 2023 | β |
| The contribution of mosaicism to genetic diseases and de novo pathogenic variants. | Tinker RJ et al. | β | 2023 | β |
| The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis. | Papageorgiou E et al. | β | 2023 | β |
| The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes. | Blake B et al. | β | 2023 | β |
| The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine. | Papadopoulou E et al. | β | 2023 | β |
| The genetics and pathogenesis of CAKUT. | Kolvenbach CM et al. | β | 2023 | β |
| The ortholog of human ssDNA-binding protein SSBP3 influences neurodevelopment and autism-like behaviors in Drosophila melanogaster. | Salim S et al. | β | 2023 | β |
| The Role of Genetic Testing for Short Stature Now and in the Future. | Wojcik MH et al. | β | 2023 | β |
| Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management. | Chhatwal K et al. | β | 2023 | β |
| Unravelling the Impact of an Additional Sex Chromosome in an Adult Female. | George S et al. | β | 2023 | β |
| What's in a name? Justifying terminology for genomic findings beyond the initial test indication: AΒ scopingΒ review. | White S et al. | β | 2023 | β |
| 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing. | Nicolle R et al. | β | 2022 | β |
| A bibliometrics analysis and visualization of autism spectrum disorder. | Rong P et al. | β | 2022 | β |
| Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study. | Hellquist A et al. | β | 2022 | β |
| A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. | Mathew MT et al. | β | 2022 | β |
| A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review. | Wen X et al. | β | 2022 | β |
| An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia. | Morris E et al. | β | 2022 | β |
| Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss. | Kowalczyk K et al. | β | 2022 | β |
| Applications of Noninvasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA. | Xiang J et al. | β | 2022 | β |
| A practical approach to the genomics of kidney disorders. | Hay E et al. | β | 2022 | β |
| A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome. | KaymakΓ§alan H et al. | β | 2022 | β |
| A scalable artificial intelligence platform that automatically finds copy number variations (CNVs) in journal articles and transforms them into a database: CNV extraction, transformation, and loading AI (CNV-ETLAI). | Choi J et al. | β | 2022 | β |
| Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe. | PinzΓ³n-Espinosa J et al. | β | 2022 | β |
| Better and faster is cheaper. | Sanford Kobayashi EF et al. | β | 2022 | β |
| Can Genomics Remove Uncertainty from Adoption? Social Workers' and Medical Advisors' Accounts of Genetic Testing. | Arribas-Ayllon M et al. | β | 2022 | β |
| Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies. | Ji W et al. | β | 2022 | β |
| Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review. | de Souza VS et al. | β | 2022 | β |
| Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. | Krepischi ACV et al. | β | 2022 | β |
| Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay. | Liu Y et al. | β | 2022 | β |
| Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients. | Perovic D et al. | β | 2022 | β |
| Clinical and genetic study of three families with 15q11q13 duplications. | Song J et al. | β | 2022 | β |
| Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort. | Lengyel A et al. | β | 2022 | β |
| Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies. | Hu T et al. | β | 2022 | β |
| Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome". | Yurchenko DA et al. | β | 2022 | β |
| Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center. | Su M et al. | β | 2022 | β |
| Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome. | Foroutan A et al. | β | 2022 | β |
| COL4A4 variant recently identified: lessons learned in variant interpretation-a case report. | Cocorpus J et al. | β | 2022 | β |
| Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID). | Chen Y et al. | β | 2022 | β |
| Consequences of chromosome gain: A new view on trisomy syndromes. | Krivega M et al. | β | 2022 | β |
| Considerations for the identification of autism spectrum disorder in children with vision or hearing impairment: A critical review of the literature and recommendations for practice. | Ludwig NN et al. | β | 2022 | β |
| Copy number variant analysis for syndromic congenital heart disease in the Chinese population. | Li P et al. | β | 2022 | β |
| Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort. | Alexander-Bloch A et al. | β | 2022 | β |
| Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. | Wu CW et al. | β | 2022 | β |
| Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability. | Miclea D et al. | β | 2022 | β |
| Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes. | Costa CIS et al. | β | 2022 | β |
| Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center. | Grassi MS et al. | β | 2022 | β |
| Delayed diagnosis and racial bias in children with genetic conditions. | Omorodion J et al. | β | 2022 | β |
| Deleterious Variation in BR Serine/Threonine Kinase 2 Classified a Subtype of Autism. | Deng J et al. | β | 2022 | β |
| Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000-2011. | Nalbandyan M et al. | β | 2022 | β |
| Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases. | Cokyaman T et al. | β | 2022 | β |
| Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers. | Ayaz A et al. | β | 2022 | β |
| Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders. | Γlvarez-Mora MI et al. | β | 2022 | β |
| Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil. | Leite AJDC et al. | β | 2022 | β |
| Differential newborn DNA methylation among individuals with complex congenital heart defects and childhood lymphoma. | Richard MA et al. | β | 2022 | β |
| DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications. | Rooney K et al. | β | 2022 | β |
| DNA methylation episignatures: insight into copy number variation. | van der Laan L et al. | β | 2022 | β |
| Dopaminergic Gene Dosage Reveals Distinct Biological Partitions between Autism and Developmental Delay as Revealed by Complex Network Analysis and Machine Learning Approaches. | Santos A et al. | β | 2022 | β |
| Evaluating Genetic Disorders in the Neonate: The Role of Exome Sequencing in the NICU. | Senaratne TN et al. | β | 2022 | β |
| Evaluation of rotavirus vaccine administration among a 22q11.2DS patient population. | McGregor S et al. | β | 2022 | β |
| Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia. | Gofin Y et al. | β | 2022 | β |
| Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit. | Muriello M | β | 2022 | β |
| Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. | Testard Q et al. | β | 2022 | β |
| Expanded Phenotypic Spectrum or Multiple Syndromes? | Poot M | β | 2022 | β |
| Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. | Bestetti I et al. | β | 2022 | β |
| Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals. | Zheng Y et al. | β | 2022 | β |
| Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout. | Applegate CD et al. | β | 2022 | β |
| Fragile X Syndrome Caused by Maternal Somatic Mosaicism of <i>FMR1</i> Gene: Case Report and Literature Review. | GΓ³mez-RodrΓguez MJ et al. | β | 2022 | β |
| Frequency of Sex Chromosome Involvement in a Large Cohort of Subjects with Two Copy Number Variants. | Vara A et al. | β | 2022 | β |
| Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. | Jacquemont S et al. | β | 2022 | β |
| Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease. | Delea M et al. | β | 2022 | β |
| Genetic care in geographically isolated small island communities: 8Β years of experience in the Dutch Caribbean. | Verberne EA et al. | β | 2022 | β |
| Genetic causes of rare and common epilepsies: What should the epileptologist know? | Lesca G et al. | β | 2022 | β |
| Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic Counselors. | Ison HE et al. | β | 2022 | β |
| Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. | Du X et al. | β | 2022 | β |
| Genome interpretation using in silico predictors of variant impact. | Katsonis P et al. | β | 2022 | β |
| Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study. | Sun Y et al. | β | 2022 | β |
| Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. | Lindstrand A et al. | β | 2022 | β |
| Global RNAseq of ocular cells reveals gene dysregulation in both asymptomatic and with Congenital Zika Syndrome infants exposed prenatally to Zika virus. | Rosa-Fernandes L et al. | β | 2022 | β |
| High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses. | Vaknin N et al. | β | 2022 | β |
| How do genetic tests answer questions about neurodevelopmental differences? A sociological take. | Navon D | β | 2022 | β |
| How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios. | Srivastava P et al. | β | 2022 | β |
| <i>De Novo</i> Large Deletion Leading to Fragile X Syndrome. | Jiraanont P et al. | β | 2022 | β |
| Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing. | Kirchner A et al. | β | 2022 | β |
| Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders. | Krgovic D et al. | β | 2022 | β |
| Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6). | JurΔenko M et al. | β | 2022 | β |
| Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis. | Correia-Costa GR et al. | β | 2022 | β |
| Interpretation challenge of small copy number variations in the imprinting regions. | Ning Y et al. | β | 2022 | β |
| Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders. | Cao Y et al. | β | 2022 | β |
| Isolated Coarctation of the Aorta: Current Concepts and Perspectives. | Bhatt AB et al. | β | 2022 | β |
| JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level. | Lee WP et al. | β | 2022 | β |
| Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype. | FarnΓ¨ M et al. | β | 2022 | β |
| Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease. | Landis BJ et al. | β | 2022 | β |
| Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases. | Schuler BA et al. | β | 2022 | β |
| Long-read sequencing for molecular diagnostics in constitutional genetic disorders. | Conlin LK et al. | β | 2022 | β |
| Machine learning models for accurate prioritization of variants of uncertain significance. | Mahecha D et al. | β | 2022 | β |
| Mechanisms of structural chromosomal rearrangement formation. | Burssed B et al. | β | 2022 | β |
| Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants. | Finucane B et al. | β | 2022 | β |
| Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation. | Cardos G et al. | β | 2022 | β |
| Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. | Srivastava S et al. | β | 2022 | β |
| Mxc, a Drosophila homolog of mental retardation-associated gene NPAT, maintains neural stem cell fate. | Sang R et al. | β | 2022 | β |
| Novel deletion of exon 3 in TYRΒ gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations. | Dhangar S et al. | β | 2022 | β |
| Novel treatments for autism spectrum disorder based on genomics and systems biology. | Baribeau D et al. | β | 2022 | β |
| Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations. | Lee A et al. | β | 2022 | β |
| Parental stress and adjustment in the context of rare genetic syndromes: A scoping review. | Fitzgerald J et al. | β | 2022 | β |
| Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort. | StreaΘΔ I et al. | β | 2022 | β |
| Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis. | Liu X et al. | β | 2022 | β |
| Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone. | Shi X et al. | β | 2022 | β |
| Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype. | Song J et al. | β | 2022 | β |
| Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family. | Zhang Y et al. | β | 2022 | β |
| Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype. | Zhou Y et al. | β | 2022 | β |
| Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family. | Chen J et al. | β | 2022 | β |
| Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies. | Hsiao CH et al. | β | 2022 | β |
| Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing. | Zhang YL et al. | β | 2022 | β |
| Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype. | Inzaghi E et al. | β | 2022 | β |
| Progress in Methods for Copy Number Variation Profiling. | Gordeeva V et al. | β | 2022 | β |
| Rare variants in the outcome of social skills group training for autism. | Li D et al. | β | 2022 | β |
| Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy. | Lee S et al. | β | 2022 | β |
| Reactive Oxygen Species and Their Consequences on the Structure and Function of Mammalian Spermatozoa. | Drevet JR et al. | β | 2022 | β |
| Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability. | Catino G et al. | β | 2022 | β |
| Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. | Brownstein CA et al. | β | 2022 | β |
| Study on the application value of BACs-on-Beads technology combined with chromosome karyotype analysis in prenatal diagnosis. | Chen L et al. | β | 2022 | β |
| The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly. | Goyal M et al. | β | 2022 | β |
| The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review. | StrnadovΓ‘ I et al. | β | 2022 | β |
| The Role of Genetic Testing Among Autistic Individuals. | Shafqat I et al. | β | 2022 | β |
| The role of structural variations in Alzheimer's disease and other neurodegenerative diseases. | Wang H et al. | β | 2022 | β |
| The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing. | Zhang W et al. | β | 2022 | β |
| Third-Generation Cytogenetic Analysis: Diagnostic Application of Long-Read Sequencing. | Magini P et al. | β | 2022 | β |
| Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis. | Huang YS et al. | β | 2022 | β |
| Update on Clinically Relevant Genetic Testing in Pediatric Dermatology. | Boyd KP et al. | β | 2022 | β |
| Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory. | Drackley A et al. | β | 2022 | β |
| Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. | Nevado J et al. | β | 2022 | β |
| Variant interpretation: UCSC Genome Browser Recommended Track Sets. | Benet-PagΓ¨s A et al. | β | 2022 | β |
| Yield of array-CGH analysis in Tunisian children with autism spectrum disorder. | Chehbani F et al. | β | 2022 | β |
| 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum. | Farra C et al. | β | 2021 | β |
| 17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype. | Milone R et al. | β | 2021 | β |
| 50 Years Ago in TheJournalofPediatrics: Syndromic Intellectual Disability: A Never-Ending Genomic Odyssey. | Endrakanti M et al. | β | 2021 | β |
| A 343 Italian cohort of patients analysed with array-comparative genomic hybridization: unsolved problems and genetic counselling difficulties. | Palka Bayard de Volo C et al. | β | 2021 | β |
| A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee. | Rosenbaum JN et al. | β | 2021 | β |
| Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions. | Yusuf A et al. | β | 2021 | β |
| A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. | Chawner SJRA et al. | β | 2021 | β |
| All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders. | Moreno-De-Luca D et al. | β | 2021 | β |
| An 88.8-kb Novel Deletion of 19q13.2 Encompassing the <i>ATP1A3</i> Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly. | GarcΓa-PayΓ‘ E et al. | β | 2021 | β |
| A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder. | Huang J et al. | β | 2021 | β |
| A Novel Mutation in the Myosin Binding Protein C Gene in a Prader-Willi Syndrome Pedigree. | Liu XQ et al. | β | 2021 | β |
| Application of Next Generation Sequencing in Laboratory Medicine. | Zhong Y et al. | β | 2021 | β |
| Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities. | Xie X et al. | β | 2021 | β |
| Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease. | Kowdley DS et al. | β | 2021 | β |
| A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome. | Meerschaut I et al. | β | 2021 | β |
| A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. | Loureiro LO et al. | β | 2021 | β |
| Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability. | TΓΌrkyΔ±lmaz A et al. | β | 2021 | β |
| Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. | De La Vega FM et al. | β | 2021 | β |
| A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting. | Taylor A et al. | β | 2021 | β |
| A study of normal copy number variations in Israeli population. | Maya I et al. | β | 2021 | β |
| A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients. | Dai L et al. | β | 2021 | β |
| Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation. | Sanchez-Jimeno C et al. | β | 2021 | β |
| Balanced at First Sight, but in Reality out of Balance. | Poot M | β | 2021 | β |
| Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray. | Hnoonual A et al. | β | 2021 | β |
| Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia. | Chen CH et al. | β | 2021 | β |
| Chromosomal Microarray in Children With Developmental Delay: The Experience of a Tertiary Center in Korea. | Yang EH et al. | β | 2021 | β |
| Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy. | Nouri N et al. | β | 2021 | β |
| Clinical application of whole-exome sequencing: A retrospective, single-center study. | Zhang Q et al. | β | 2021 | β |
| Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder. | Plug MB et al. | β | 2021 | β |
| Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. | Sadikovic B et al. | β | 2021 | β |
| Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center. | Liu Y et al. | β | 2021 | β |
| ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data. | Minoche AE et al. | β | 2021 | β |
| Comorbidities associated with genetic abnormalities in children with intellectual disability. | Chen JS et al. | β | 2021 | β |
| Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders. | Martinez-Granero F et al. | β | 2021 | β |
| Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving <i>OTUD6B</i> Coinciding with <i>ZMIZ1</i> Variant in Syndromic Intellectual Disability. | Phetthong T et al. | β | 2021 | β |
| Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. | Villela D et al. | β | 2021 | β |
| Co-occurring non-omphalocele and non-gastroschisis anomalies among cases with congenital omphalocele and gastroschisis. | Stoll C et al. | β | 2021 | β |
| Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes? | Ortega V et al. | β | 2021 | β |
| Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders. | Milone R et al. | β | 2021 | β |
| Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology. | Mak BC et al. | β | 2021 | β |
| CYP27A1-dependent anti-melanoma activity of limonoid natural products targets mitochondrial metabolism. | Cho H et al. | β | 2021 | β |
| DeepCNV: a deep learning approach for authenticating copy number variations. | Glessner JT et al. | β | 2021 | β |
| Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. | Cope H et al. | β | 2021 | β |
| Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies. | Sun D et al. | β | 2021 | β |
| Developmental disabilities across the world: A scientometric review from 1936 to 2020. | Carollo A et al. | β | 2021 | β |
| Diagnosis and Workup of Intellectual Disability in Adults: Suggested Strategies for the Adult Neurologist. | Frueh JS et al. | β | 2021 | β |
| Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project. | Wang H et al. | β | 2021 | β |
| Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations. | Chen WL et al. | β | 2021 | β |
| Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation. | Finucane BM et al. | β | 2021 | β |
| Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability. | Miclea D et al. | β | 2021 | β |
| Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel. | Tal-Ben Ishay R et al. | β | 2021 | β |
| Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders. | Lee HF et al. | β | 2021 | β |
| Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays. | Fan Y et al. | β | 2021 | β |
| Diagnostic yield of genetic testing in 324 infants with hypotonia. | Sharma S et al. | β | 2021 | β |
| Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability. | OΔuz S et al. | β | 2021 | β |
| Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability. | TaΕkΔ±ran EZ et al. | β | 2021 | β |
| Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series. | Peltekova I et al. | β | 2021 | β |
| Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. | Blagojevic C et al. | β | 2021 | β |
| Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations. | Valentino F et al. | β | 2021 | β |
| Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder. | Hendel Y et al. | β | 2021 | β |
| First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly. | Turkyilmaz A et al. | β | 2021 | β |
| Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing. | Xiang J et al. | β | 2021 | β |
| Genetic developmental disability diagnosed in adulthood: a case report. | Langenfeld A et al. | β | 2021 | β |
| Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. | Yang M et al. | β | 2021 | β |
| Genetic Disease and Therapy. | Roth TL et al. | β | 2021 | β |
| Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists. | Truong TK et al. | β | 2021 | β |
| Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association. | Landstrom AP et al. | β | 2021 | β |
| Genetic Testing in Neurodevelopmental Disorders. | Savatt JM et al. | β | 2021 | β |
| Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia. | Mojarad BA et al. | β | 2021 | β |
| Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability. | Huguet G et al. | β | 2021 | β |
| Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders. | Yamamoto T | β | 2021 | β |
| Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review. | Sun H et al. | β | 2021 | β |
| Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience. | Manno GC et al. | β | 2021 | β |
| Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia. | Oszer A et al. | β | 2021 | β |
| Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia. | Boujemaa M et al. | β | 2021 | β |
| Guidelines for genetic testing of muscle and neuromuscular junction disorders. | Nicolau S et al. | β | 2021 | β |
| Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies? | Larroya M et al. | β | 2021 | β |
| Higher chromosomal aberration frequency in products of conception from women older than 32 years old with diminished ovarian reserve undergoing IVF/ICSI. | Zhang W et al. | β | 2021 | β |
| Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey. | Γzaslan A et al. | β | 2021 | β |
| Incidental finding of APC deletion in a child: double trouble or double chance? - a case report. | Rosina E et al. | β | 2021 | β |
| Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. | Lee CL et al. | β | 2021 | β |
| Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report. | Ali TM et al. | β | 2021 | β |
| Intellectual Developmental Disabilities:: Definitions, Diagnosis, and Delivery of Care. | Bartoshesky LE et al. | β | 2021 | β |
| Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis. | Zhang J et al. | β | 2021 | β |
| Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia? | Zhang F et al. | β | 2021 | β |
| Massive parallel sequencing in a family with rectal cancer. | Wallander K et al. | β | 2021 | β |
| Molecular genetic analysis and growth hormone response in patients with syndromic short stature. | Sun H et al. | β | 2021 | β |
| Need for psychiatric phenotyping in patients with rare genetic disorders. | Degenhardt F et al. | β | 2021 | β |
| Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs. | Servetti M et al. | β | 2021 | β |
| Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives. | Duan M et al. | β | 2021 | β |
| Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic. | Trakadis Y et al. | β | 2021 | β |
| One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report. | Wang X et al. | β | 2021 | β |
| Optical genome mapping enables constitutional chromosomal aberration detection. | Mantere T et al. | β | 2021 | β |
| Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage. | Lee JM et al. | β | 2021 | β |
| Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform. | Yang J et al. | β | 2021 | β |
| PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. | Pijuan J et al. | β | 2021 | β |
| PLXNA2 as a candidate gene in patients with intellectual disability. | Altuame FD et al. | β | 2021 | β |
| Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses. | Wain KE et al. | β | 2021 | β |
| Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing. | Peltekova I et al. | β | 2021 | β |
| Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience. | Bajaj Lall M et al. | β | 2021 | β |
| Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome. | GarcΓa-Santiago FA et al. | β | 2021 | β |
| Pretransplant HLA mistyping in diagnostic sample of a T-ALL patient due to loss of heterozygosity in the major histocompatibility complex. | Shi X et al. | β | 2021 | β |
| Prevalence and Phenotypic Impact of Robertsonian Translocations. | Poot M et al. | β | 2021 | β |
| Screening for <i>FMR1</i> CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder. | Hnoonual A et al. | β | 2021 | β |
| Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications. | CorrΓͺa T et al. | β | 2021 | β |
| SNP Array as a Tool for Prenatal Diagnosis of Congenital Heart Disease Screened by Echocardiography: Implications for Precision Assessment of Fetal Prognosis. | Huang H et al. | β | 2021 | β |
| Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study. | Hui L et al. | β | 2021 | β |
| The current state of prenatal detection of genetic conditions in congenital heart defects. | Findley TO et al. | β | 2021 | β |
| The diagnostic trajectory of infants and children with clinical features of genetic disease. | Schroeder BE et al. | β | 2021 | β |
| The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned. | Quinonez SC et al. | β | 2021 | β |
| The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the <i>UBE2A</i> and <i>CXorf56</i> Genes. | WolaΕska E et al. | β | 2021 | β |
| TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. | Goodman LD et al. | β | 2021 | β |
| Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test. | Arteche-LΓ³pez A et al. | β | 2021 | β |
| Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. | Mullegama SV et al. | β | 2021 | β |
| Translational Study of Copy Number Variations in Schizophrenia. | Cheng MC et al. | β | 2021 | β |
| Universal chromosomal microarray analysis reveals high proportion of copy-number variants in low-risk pregnancies. | Stern S et al. | β | 2021 | β |
| What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders. | Vorstman J et al. | β | 2021 | β |
| Whole genomeΒ mapping and identification of single nucleotide polymorphismsΒ ofΒ four BangladeshiΒ individualsΒ and their functional significance. | Khan S et al. | β | 2021 | β |
| Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation. | CzakΓ³ M et al. | β | 2021 | β |
| 22q11.2 deletion syndrome and congenital heart disease. | Goldmuntz E | β | 2020 | β |
| A Bibliometric Insight of Genetic Factors in ASD: Emerging Trends and New Developments. | Wang K et al. | β | 2020 | β |
| A chromosome 1q22 microdeletion including <i>ASH1L</i> is associated with intellectual disability in a Chinese family. | Xi H et al. | β | 2020 | β |
| A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy. | Shikany AR et al. | β | 2020 | β |
| A diagnostic approach to syndromic retinal dystrophies with intellectual disability. | Yang XR et al. | β | 2020 | β |
| Age dependent association of inbreeding with risk for schizophrenia in Egypt. | McClain L et al. | β | 2020 | β |
| A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. | Rajagopalan R et al. | β | 2020 | β |
| A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report. | Jiang M et al. | β | 2020 | β |
| Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of <i>NRXN3</i> and <i>NEDD4L</i> Deletions. | Γebi AH et al. | β | 2020 | β |
| Appropriateness of array-CGH in the ADHD clinics: A comparative study. | Baccarin M et al. | β | 2020 | β |
| A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing. | Kim HH et al. | β | 2020 | β |
| A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features. | Palumbo O et al. | β | 2020 | β |
| A six-attribute classification of genetic mosaicism. | MartΓnez-Glez V et al. | β | 2020 | β |
| A structural variation reference for medical and population genetics. | Collins RL et al. | β | 2020 | β |
| Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children. | Chen WJ et al. | β | 2020 | β |
| Automatic Identification of Down Syndrome Using Facial Images with Deep Convolutional Neural Network. | Qin B et al. | β | 2020 | β |
| BACs-on-Beadsβ’ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping. | Farra C et al. | β | 2020 | β |
| Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome. | Maya I et al. | β | 2020 | β |
| Cardiofaciocutaneous syndrome with rare structural variant in <i>DOCK8</i> gene associated with neurodevelopmental disorders. | Dell'Edera D et al. | β | 2020 | β |
| Chorea in children: etiology, diagnostic approach and management. | Baizabal-Carvallo JF et al. | β | 2020 | β |
| Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach. | Muys J et al. | β | 2020 | β |
| Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders. | GΓΌrkan H et al. | β | 2020 | β |
| Chromosomal microarray analysis of infertile men with azoospermia factor microdeletions. | Zhu Y et al. | β | 2020 | β |
| Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort. | Dong X et al. | β | 2020 | β |
| Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis. | Xie W et al. | β | 2020 | β |
| Clinical Genetic Screening in Adult Patients with Kidney Disease. | Cocchi E et al. | β | 2020 | β |
| CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. | Yuan B et al. | β | 2020 | β |
| Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. | Sabo A et al. | β | 2020 | β |
| Copy number alterations involving 59 ACMG-recommended secondary findings genes. | Yatsenko SA et al. | β | 2020 | β |
| Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. | Yehia L et al. | β | 2020 | β |
| Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects. | Berisha SZ et al. | β | 2020 | β |
| Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype? | MarquΓ¨s B et al. | β | 2020 | β |
| Deciphering congenital anomalies for the next generation. | Wojcik MH et al. | β | 2020 | β |
| Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies. | Jobanputra V et al. | β | 2020 | β |
| Detection of copy number variants with chromosomal microarray in 10Β 377 pregnancies at a single laboratory. | Lin YH et al. | β | 2020 | β |
| Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability. | Stojanovic JR et al. | β | 2020 | β |
| Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: AΒ working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. | Chinn IK et al. | β | 2020 | β |
| Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. | Quaio CRDC et al. | β | 2020 | β |
| Dysmorphology in the Era of Genomic Diagnosis. | Hurst ACE et al. | β | 2020 | β |
| Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes. | Pei Y et al. | β | 2020 | β |
| Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline. | Hattori A et al. | β | 2020 | β |
| Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction. | Imaizumi T et al. | β | 2020 | β |
| Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map. | Austin JC | β | 2020 | β |
| Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres. | Jezkova J et al. | β | 2020 | β |
| Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability. | Daoqi M et al. | β | 2020 | β |
| Fifteen-minute consultation: Efficient investigation of the child with early developmental impairment in the era of genomic sequencing. | Coysh T et al. | β | 2020 | β |
| First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel <i>HSD17B4</i> Mutations and Progressive Neuropathy in Korea. | Bae EY et al. | β | 2020 | β |
| First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. | Gupta N et al. | β | 2020 | β |
| Further evidence of GABRA4 and TOP3B as autism susceptibility genes. | Riley JD et al. | β | 2020 | β |
| Genetic analysis of intellectual disability and autism. | Chiurazzi P et al. | β | 2020 | β |
| Genetic background of ataxia in children younger than 5 years in Finland. | Ignatius E et al. | β | 2020 | β |
| Genetic Counseling in Neurodevelopmental Disorders. | Blesson A et al. | β | 2020 | β |
| Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. | De Backer J et al. | β | 2020 | β |
| Genetic testing on products of conception and its relationship with body mass index. | Wang L et al. | β | 2020 | β |
| Genetic testing strategies in the newborn. | Carroll J et al. | β | 2020 | β |
| Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability. | Han JY et al. | β | 2020 | β |
| Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. | Costain G et al. | β | 2020 | β |
| Genome-Wide Meta-Analyses of FTND and TTFC Phenotypes. | Chen J et al. | β | 2020 | β |
| Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment. | Ontario Health (Quality) | β | 2020 | β |
| Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. | Lalonde E et al. | β | 2020 | β |
| Genomic imbalances in craniofacial microsomia. | Spineli-Silva S et al. | β | 2020 | β |
| Genomic Stability Testing of Pluripotent Stem Cells. | McIntire E et al. | β | 2020 | β |
| High facial specificity and positive predictive value are required to diagnose fetal alcohol syndrome when prenatal alcohol exposure is unknown. | Astley Hemingway SJ | β | 2020 | β |
| Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. | Hyman SL et al. | β | 2020 | β |
| Identification of a likely pathogenic structural variation in the <i>LAMA1</i> gene by Bionano optical mapping. | Chen M et al. | β | 2020 | β |
| Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. | Martin CL et al. | β | 2020 | β |
| Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. | Foley C et al. | β | 2020 | β |
| Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system. | Espeche LD et al. | β | 2020 | β |
| International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. | Nevado J et al. | β | 2020 | β |
| <i>SETD5</i> Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome. | Crippa M et al. | β | 2020 | β |
| KIAA1109 gene mutation in surviving patients with Alkuraya-KuΔinskas syndrome: a review of literature. | Kumar K et al. | β | 2020 | β |
| Linking risk factors and outcomes in autism spectrum disorder: is there evidence for resilience? | Elsabbagh M | β | 2020 | β |
| Loss-of-Function <i>NUBPL</i> Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency. | Eis PS et al. | β | 2020 | β |
| Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. | Wang H et al. | β | 2020 | β |
| Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. | Kaplan KA et al. | β | 2020 | β |
| Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. | da Silva Montenegro EM et al. | β | 2020 | β |
| Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. | Cope H et al. | β | 2020 | β |
| Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co-chaperone STI1. | Lackie RE et al. | β | 2020 | β |
| Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy. | Villar-Quiles RN et al. | β | 2020 | β |
| Mutagenicity monitoring in humans: Global versus specific origin of mutations. | Albertini RJ et al. | β | 2020 | β |
| Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes. | Poot M | β | 2020 | β |
| Neurologic Features with Pathogenic Copy Number Variants. | Coryell J | β | 2020 | β |
| Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. | Kanzi AM et al. | β | 2020 | β |
| Novel missense variant in TTN cosegregating with familial atrioventricular block. | Liu G et al. | β | 2020 | β |
| Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review. | Stingl CS et al. | β | 2020 | β |
| Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report. | Valencia-PeΓ±a C et al. | β | 2020 | β |
| Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting. | Michelson DJ et al. | β | 2020 | β |
| Overview and Introduction to Autism Spectrum Disorder (ASD). | Al-Dewik N et al. | β | 2020 | β |
| Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders. | Hu X et al. | β | 2020 | β |
| Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the <i>FOXP1</i> Gene: Review of the Literature. | Abarca-Barriga HH et al. | β | 2020 | β |
| Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). | Mubungu G et al. | β | 2020 | β |
| Phenotype Heterogeneity in 3q29 Microduplication Syndrome. | Streata I et al. | β | 2020 | β |
| Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution. | Chu C et al. | β | 2020 | β |
| Polyhydramnios and abnormal foetal heart rate patterns in a foetus with Prader-Willi syndrome: A case report. | Murata T et al. | β | 2020 | β |
| PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. | Loddo S et al. | β | 2020 | β |
| Practice Parameter for the Assessment and Treatment of Psychiatric Disorders in Children and Adolescents With Intellectual Disability (Intellectual Developmental Disorder). | Siegel M et al. | β | 2020 | β |
| Prenatal diagnosis and molecular cytogenetic characterization of three chromosomal abnormalities with favorable outcomes. | Chen Q et al. | β | 2020 | β |
| Prenatally detected copy number variants in a national cohort: A postnatal follow-up study. | Muys J et al. | β | 2020 | β |
| Professionals' accounts of genetic testing in adoption: a qualitative study. | Arribas-Ayllon M et al. | β | 2020 | β |
| Recent Advances in Understanding the Genetic Architecture of Autism. | Dias CM et al. | β | 2020 | β |
| Re-examining the Ethics of Genetic Counselling in the Genomic Era. | Schupmann W et al. | β | 2020 | β |
| Reinterpretation of Chromosomal Microarrays with Detailed Medical History. | Farooqi MS et al. | β | 2020 | β |
| Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay. | Lee Z et al. | β | 2020 | β |
| Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting? | Maya I et al. | β | 2020 | β |
| Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution. | Maggiolini FAM et al. | β | 2020 | β |
| Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China. | Liang B et al. | β | 2020 | β |
| State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians. | Kreiman BL et al. | β | 2020 | β |
| Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation. | Boothe M et al. | β | 2020 | β |
| Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis? | Mates J et al. | β | 2020 | β |
| Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. | Malinowski J et al. | β | 2020 | β |
| Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era? | Andrews K et al. | β | 2020 | β |
| Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). | Riggs ER et al. | β | 2020 | β |
| Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate. | Catusi I et al. | β | 2020 | β |
| The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing. | Wang J et al. | β | 2020 | β |
| The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service. | Besterman AD et al. | β | 2020 | β |
| The genetic workup for structural congenital heart disease. | Jerves T et al. | β | 2020 | β |
| The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. | Jezela-Stanek A et al. | β | 2020 | β |
| The Reproductive Journey in the Genomic Era: From Preconception to Childhood. | Garcia-Herrero S et al. | β | 2020 | β |
| Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. | Rees E et al. | β | 2020 | β |
| Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report. | Matis T et al. | β | 2020 | β |
| Utility of clinical exome sequencing in a complex Emirati pediatric cohort. | Mahfouz NA et al. | β | 2020 | β |
| Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. | Wain KE et al. | β | 2020 | β |
| Voltage-Gated Sodium Channel Ξ²1 Gene: An Overview. | Al-Ward H et al. | β | 2020 | β |
| Whole genome analysis identifies the association of TP53 genomic deletions with lower survival in Stage III colorectal cancer. | Xia LC et al. | β | 2020 | β |
| Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients. | Xiao B et al. | β | 2020 | β |
| Xia-Gibbs Syndrome: A Review of Literature. | Goyal C et al. | β | 2020 | β |
| 9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. | Bonati MT et al. | β | 2019 | β |
| A clinically validated whole genome pipeline for structural variant detection and analysis. | Neerman N et al. | β | 2019 | β |
| A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients. | Davis KW et al. | β | 2019 | β |
| Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review. | Mir YR et al. | β | 2019 | β |
| A large data resource of genomic copy number variation across neurodevelopmental disorders. | Zarrei M et al. | β | 2019 | β |
| Altered Urinary Amino Acids in Children With Autism Spectrum Disorders. | Liu A et al. | β | 2019 | β |
| A machine-learning approach for accurate detection of copy number variants from exome sequencing. | Pounraja VK et al. | β | 2019 | β |
| Analysis of chromosome microstructures in products of conception associated with recurrent miscarriage. | Sato T et al. | β | 2019 | β |
| Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series. | Wen J et al. | β | 2019 | β |
| A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay. | Paulraj P et al. | β | 2019 | β |
| A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. | Chai H et al. | β | 2019 | β |
| A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features. | Vickers RR et al. | β | 2019 | β |
| Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan. | Lee CL et al. | β | 2019 | β |
| Association between distress and knowledge among parents of autistic children. | Yusuf A et al. | β | 2019 | β |
| Association of genes with phenotype in autism spectrum disorder. | Nisar S et al. | β | 2019 | β |
| Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening. | Pavlicek J et al. | β | 2019 | β |
| Autism spectrum disorders: autistic phenotypes and complicated mechanisms. | Zhang XC et al. | β | 2019 | β |
| Autism, spectrum or clusters? An EEG coherence study. | Duffy FH et al. | β | 2019 | β |
| Bionano Genome Mapping: High-Throughput, Ultra-Long Molecule Genome Analysis System for Precision Genome Assembly and Haploid-Resolved Structural Variation Discovery. | Bocklandt S et al. | β | 2019 | β |
| Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. | Bick D et al. | β | 2019 | β |
| Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders. | Magini P et al. | β | 2019 | β |
| Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation. | Hu T et al. | β | 2019 | β |
| Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea. | Jang W et al. | β | 2019 | β |
| Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability. | Arican P et al. | β | 2019 | β |
| Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis. | Li S et al. | β | 2019 | β |
| Clinical application of next-generation sequencing to the practice of neurology. | Rexach J et al. | β | 2019 | β |
| Clinical Practice Guidelines for Assessment and Management of intellectual disability. | Kishore MT et al. | β | 2019 | β |
| Clinical utility of genomic sequencing. | Neu MB et al. | β | 2019 | β |
| Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. | Dharmadhikari AV et al. | β | 2019 | β |
| Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders. | Wassman ER et al. | β | 2019 | β |
| Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype. | Song T et al. | β | 2019 | β |
| Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada. | Jain P et al. | β | 2019 | β |
| Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. | Zollino M et al. | β | 2019 | β |
| Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China. | Liao LH et al. | β | 2019 | β |
| Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit. | Tan NB et al. | β | 2019 | β |
| Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience. | Han JY et al. | β | 2019 | β |
| Diagnostic implications of genetic copy number variation in epilepsy plus. | Coppola A et al. | β | 2019 | β |
| Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. | Aref-Eshghi E et al. | β | 2019 | β |
| Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study. | SΓ‘nchez FernΓ‘ndez I et al. | β | 2019 | β |
| Diagnostic Yield of Intellectual Disability Gene Panels. | Pekeles H et al. | β | 2019 | β |
| Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients. | Capkova Z et al. | β | 2019 | β |
| Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation. | Sihombing NRB et al. | β | 2019 | β |
| Duplications in 19p13.3 are associated with male infertility. | Singh V et al. | β | 2019 | β |
| Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development. | Park KB et al. | β | 2019 | β |
| Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. | Boonsawat P et al. | β | 2019 | β |
| Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital. | Yi JL et al. | β | 2019 | β |
| Estimating the burden and economic impact of pediatric genetic disease. | Gonzaludo N et al. | β | 2019 | β |
| Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. | JΓΈnch AE et al. | β | 2019 | β |
| European guidelines for constitutional cytogenomic analysis. | Silva M et al. | β | 2019 | β |
| Evaluation of copy number variant detection from panel-based next-generation sequencing data. | Yao R et al. | β | 2019 | β |
| Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. | Dines JN et al. | β | 2019 | β |
| Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong. | Cheng SSW et al. | β | 2019 | β |
| Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome. | Arora V et al. | β | 2019 | β |
| Familial inheritance of the 3q29 microdeletion syndrome: case report and review. | Khan WA et al. | β | 2019 | β |
| Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay. | Zepeda-Mendoza C et al. | β | 2019 | β |
| From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. | Lindstrand A et al. | β | 2019 | β |
| Genetics and epigenetics of autism spectrum disorder-current evidence in the field. | WiΕniowiecka-Kowalnik B et al. | β | 2019 | β |
| Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States. | Zhao S et al. | β | 2019 | β |
| Genome-Wide Copy Number Variation Detection Using NGS: Data Analysis and Interpretation. | Shen W et al. | β | 2019 | β |
| Genome-wide sequencing in acutely ill infants: genomic medicine's critical application? | Friedman JM et al. | β | 2019 | β |
| Genomic Copy Number Variations in the Autism Clinic-Work in Progress. | Velinov M | β | 2019 | β |
| Genomic imbalances defining novel intellectual disability associated loci. | Lopes F et al. | β | 2019 | β |
| Genomics of disease risk in globally diverse populations. | Gurdasani D et al. | β | 2019 | β |
| Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. | Chawner SJRA et al. | β | 2019 | β |
| Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience. | Yu A et al. | β | 2019 | β |
| Growth hormone therapy in children; research and practice - A review. | Collett-Solberg PF et al. | β | 2019 | β |
| High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients. | Mitrakos A et al. | β | 2019 | β |
| Homozygous Deletion of the <i>CFTR</i> Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis. | VΓ‘squez Sotomayor F et al. | β | 2019 | β |
| How many copies of <i>GSTM1</i> and <i>GSTT1</i> are associated with head and neck cancer risk? | Firigato I et al. | β | 2019 | β |
| Hypogonadotrophic hypogonadism, delayed puberty and risk for neurodevelopmental disorders. | Ohlsson Gotby V et al. | β | 2019 | β |
| <i>De novo</i> Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. | Wang W et al. | β | 2019 | β |
| Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability. | Parsamanesh N et al. | β | 2019 | β |
| Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing. | PΓΆs O et al. | β | 2019 | β |
| Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing. | Huang Y et al. | β | 2019 | β |
| <i>FADD</i> in Cancer: Mechanisms of Altered Expression and Function, and Clinical Implications. | MarΓn-Rubio JL et al. | β | 2019 | β |
| <i>GATAD2B</i> Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature. | Trubnykova M et al. | β | 2019 | β |
| Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation. | AltΔ±ner Ε et al. | β | 2019 | β |
| Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases. | Shi P et al. | β | 2019 | β |
| Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. | Ruzzo EK et al. | β | 2019 | β |
| Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease. | Fotiou E et al. | β | 2019 | β |
| Intellectual disability and autism spectrum disorders 'on the fly': insights from <i>Drosophila</i>. | Coll-TanΓ© M et al. | β | 2019 | β |
| Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing <i>SLC20A2</i> and <i>THAP1</i>. | Mu W et al. | β | 2019 | β |
| Introduction of genomics into prenatal diagnostics. | Talkowski ME et al. | β | 2019 | β |
| Investigating Potential Biomarkers in Autism Spectrum Disorder. | Bridgemohan C et al. | β | 2019 | β |
| Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. | Hebbar M et al. | β | 2019 | β |
| Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. | Srivastava S et al. | β | 2019 | β |
| MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. | Capkova P et al. | β | 2019 | β |
| Model system identification of novel congenital heart disease gene candidates: focus on RPL13. | Schroeder AM et al. | β | 2019 | β |
| Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence. | Masson J et al. | β | 2019 | β |
| Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis. | Xue H et al. | β | 2019 | β |
| Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes. | Crippa M et al. | β | 2019 | β |
| Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients. | Ganapathy A et al. | β | 2019 | β |
| Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. | Ma Y et al. | β | 2019 | β |
| Needs assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the united states. | Zhao S et al. | β | 2019 | β |
| Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries. | Currall BB et al. | β | 2019 | β |
| Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features. | Chen Y et al. | β | 2019 | β |
| Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. | Meng L et al. | β | 2019 | β |
| Paternal impacts on development: identification of genomic regions vulnerable to oxidative DNA damage in human spermatozoa. | Xavier MJ et al. | β | 2019 | β |
| Persistent Lin28 Expression Impairs Neurite Outgrowth and Cognitive Function in the Developing Mouse Neocortex. | Jang HJ et al. | β | 2019 | β |
| Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances. | de Souza LC et al. | β | 2019 | β |
| Pitfalls in molecular diagnostics. | Sun L et al. | β | 2019 | β |
| Possibility of early diagnosis in a fetus affected by PraderβWilli syndrome with maternal heteroβUPD15: A lesson to be learned. | Dong Y et al. | β | 2019 | β |
| Potential genetic causes of miscarriage in euploid pregnancies: a systematic review. | Colley E et al. | β | 2019 | β |
| Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. | D'Abate L et al. | β | 2019 | β |
| Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series. | Yue F et al. | β | 2019 | β |
| Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia. | Lobashevsky AL et al. | β | 2019 | β |
| Primary gonadal failure. | Ladjouze A et al. | β | 2019 | β |
| Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. | Costain G et al. | β | 2019 | β |
| RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions. | Whitford W et al. | β | 2019 | β |
| Refining the Phenotype of Recurrent Rearrangements of Chromosome 16. | Redaelli S et al. | β | 2019 | β |
| Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective. | Lakhani SA et al. | β | 2019 | β |
| Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization. | Huang MH et al. | β | 2019 | β |
| Role of late amniocentesis in the era of modern genomic technologies. | Daum H et al. | β | 2019 | β |
| Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy. | Vlaskamp DRM et al. | β | 2019 | β |
| Standards of diagnostic assessment for autism spectrum disorder. | Brian JA et al. | β | 2019 | β |
| Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. | Botton MR et al. | β | 2019 | β |
| Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies. | Gil-da-Silva-Lopes VL et al. | β | 2019 | β |
| Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health. | Sgardioli IC et al. | β | 2019 | β |
| The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay. | Wayhelova M et al. | β | 2019 | β |
| The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy. | Rudolf G et al. | β | 2019 | β |
| The rare 13q33-q34 microdeletions: eight new patients and review of the literature. | Sagi-Dain L et al. | β | 2019 | β |
| The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy. | Mefford HC | β | 2019 | β |
| The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers. | Durham L et al. | β | 2019 | β |
| Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician. | Wit JM et al. | β | 2019 | β |
| Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. | Petter C et al. | β | 2019 | β |
| Translational Medicine in Neurological Disorders: A Genomic Perspective. | Gentile G et al. | β | 2019 | β |
| Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures. | Alsahli S et al. | β | 2019 | β |
| Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics. | Szego MJ et al. | β | 2019 | β |
| What do parents expect from a genetic diagnosis of their child with intellectual disability? | Dikow N et al. | β | 2019 | β |
| Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome. | Zheng B et al. | β | 2019 | β |
| 13q mosaic deletion including <i>RB1</i> associated to mild phenotype and no cancer outcome - case report and review of the literature. | Bestetti I et al. | β | 2018 | β |
| 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. | Trimouille A et al. | β | 2018 | β |
| A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. | Lumaka A et al. | β | 2018 | β |
| A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. | Trost B et al. | β | 2018 | β |
| Advancing Stem Cell Models of Alpha-Synuclein Gene Regulation in Neurodegenerative Disease. | Piper DA et al. | β | 2018 | β |
| A feasible diagnostic approach for the translocation carrier from the indication of products of conception. | Qian YQ et al. | β | 2018 | β |
| A Key Role for the Genetic Counsellor in the Genomics Era. | Joseph FM | β | 2018 | β |
| All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation. | Helm BM et al. | β | 2018 | β |
| A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. | Ceroni JRM et al. | β | 2018 | β |
| An estimation of the prevalence of genomic disorders using chromosomal microarray data. | Gillentine MA et al. | β | 2018 | β |
| Application of Chromosomal Microarray for Evaluation of Idiopathic Short Stature in Asian Indian Children: A Pilot Study. | Singh H et al. | β | 2018 | β |
| Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction. | An G et al. | β | 2018 | β |
| Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate. | da Silva HPV et al. | β | 2018 | β |
| A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome. | Coelho Molck M et al. | β | 2018 | β |
| A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma. | Chowdhury W et al. | β | 2018 | β |
| Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders. | Napoli E et al. | β | 2018 | β |
| Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group. | Xu X et al. | β | 2018 | β |
| Associated anomalies in cases with anorectal anomalies. | Stoll C et al. | β | 2018 | β |
| A streamlined workflow for single-cells genome-wide copy-number profiling by low-pass sequencing of LM-PCR whole-genome amplification products. | Ferrarini A et al. | β | 2018 | β |
| Autism spectrum disorder and genetic testing: Parental perceptions and decision-making. | Hanish AE et al. | β | 2018 | β |
| Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance. | Sontag MK et al. | β | 2018 | β |
| CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study. | GarcΓa-Acero M et al. | β | 2018 | β |
| Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. | Shenoy RD et al. | β | 2018 | β |
| Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. | Fan Y et al. | β | 2018 | β |
| Chromosomal Microarray: Application for Congenital Heart Diseases. | Ko JM | β | 2018 | β |
| Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program. | Vogel I et al. | β | 2018 | β |
| Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability. | Lee JS et al. | β | 2018 | β |
| Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. | Jorge P et al. | β | 2018 | β |
| Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model. | Kozareva V et al. | β | 2018 | β |
| Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders. | Xu M et al. | β | 2018 | β |
| Clinical approach to the patient with neurogenetic disease. | Bird TD et al. | β | 2018 | β |
| CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing. | Innes J et al. | β | 2018 | β |
| Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration. | Leppig KA | β | 2018 | β |
| [Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis]. | Castells-Sarret N et al. | β | 2018 | β |
| Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. | Sanchis-Juan A et al. | β | 2018 | β |
| Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. | Riggs ER et al. | β | 2018 | β |
| Copy number variations and fetal ventriculomegaly. | Wang Y et al. | β | 2018 | β |
| Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder. | Yuen T et al. | β | 2018 | β |
| Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability. | Li Y et al. | β | 2018 | β |
| Cutis laxa in a patient with 1p36 deletion syndrome. | Zhang Z et al. | β | 2018 | β |
| Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics. | Yokoyama E et al. | β | 2018 | β |
| Developmental Defects Associated With DNA Copy Number Gain of Chromosome 2q33.1: A Case Report and Review of Literature. | Gupta A et al. | β | 2018 | β |
| Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. | Vetro A et al. | β | 2018 | β |
| Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping. | LovreΔiΔ L et al. | β | 2018 | β |
| Effect of assisted reproductive technology on the molecular karyotype of missed abortion tissues. | Li G et al. | β | 2018 | β |
| Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome. | Palmer LD et al. | β | 2018 | β |
| Enrichment of rare copy number variation in children with developmental language disorder. | Kalnak N et al. | β | 2018 | β |
| Ethical considerations in prenatal testing: Genomic testing and medical uncertainty. | Richardson A et al. | β | 2018 | β |
| Evaluation of the Child With Developmental Impairments. | van Karnebeek CDM | β | 2018 | β |
| Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. | Zhao JJ et al. | β | 2018 | β |
| Genetic and genomic testing for neurologic disease in clinical practice. | Fogel BL | β | 2018 | β |
| Genetic basis of human congenital anomalies of the kidney and urinary tract. | Sanna-Cherchi S et al. | β | 2018 | β |
| Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. | Wojcik MH et al. | β | 2018 | β |
| Genetic evaluation of patients with congenital heart disease. | Geddes GC et al. | β | 2018 | β |
| Genetics and genomics in Peru: Clinical and research perspective. | Guio H et al. | β | 2018 | β |
| Genetic short stature. | Grunauer M et al. | β | 2018 | β |
| Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. | Aradhya S et al. | β | 2018 | β |
| Genetic testing and autism: Tutorial for communication sciences and disorders. | DeThorne LS et al. | β | 2018 | β |
| Genetic testing in children and adolescents with intellectual disability. | Bass N et al. | β | 2018 | β |
| Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability. | Chen X et al. | β | 2018 | β |
| Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. | Selvanayagam T et al. | β | 2018 | β |
| Genome-wide sequencing technologies: A primer for paediatricians. | Hayeems RZ et al. | β | 2018 | β |
| Genomic disorders 20 years on-mechanisms for clinical manifestations. | Harel T et al. | β | 2018 | β |
| Genomic medicine for kidney disease. | Groopman EE et al. | β | 2018 | β |
| Getting serious about the early-life epilepsies: Lessons from the world of pediatric oncology. | Berg AT et al. | β | 2018 | β |
| Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders. | Hoang N et al. | β | 2018 | β |
| Identification of novel genomic imbalances in Saudi patients with congenital heart disease. | Al-Hassnan ZN et al. | β | 2018 | β |
| Identification of rare de novo epigenetic variations in congenital disorders. | Barbosa M et al. | β | 2018 | β |
| Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders. | Ceylan AC et al. | β | 2018 | β |
| Increasing the diagnostic yield of exome sequencing by copy number variant analysis. | Marchuk DS et al. | β | 2018 | β |
| <i>NeuroArray</i>: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders. | La Cognata V et al. | β | 2018 | β |
| Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype. | Ward DI et al. | β | 2018 | β |
| Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction. | Brun S et al. | β | 2018 | β |
| Interstitial Chromosome 3p13p14 Deletions: An Update and Review. | Hajek CA et al. | β | 2018 | β |
| Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients. | Osio D et al. | β | 2018 | β |
| Investigating the child with intellectual disability. | Amor DJ | β | 2018 | β |
| Is prenatal genomic testing ready for prime time? | Adam MP | β | 2018 | β |
| Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples. | Huguet G et al. | β | 2018 | β |
| Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. | Clark MM et al. | β | 2018 | β |
| Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability. | Lovrecic L et al. | β | 2018 | β |
| Molecular Karyotyping in Children and Adolescents with Gender Dysphoria. | Pang KC et al. | β | 2018 | β |
| Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report. | Pinto IP et al. | β | 2018 | β |
| Multicolor Fluorescence In Situ Hybridization (FISH) Approaches for Simultaneous Analysis of the Entire Human Genome. | Zhang C et al. | β | 2018 | β |
| Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. | Thygesen JH et al. | β | 2018 | β |
| Novel applications of array comparative genomic hybridization in molecular diagnostics. | Cheung SW et al. | β | 2018 | β |
| Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3. | La Serna-Infantes J et al. | β | 2018 | β |
| Paediatric genomics: diagnosing rare disease in children. | Wright CF et al. | β | 2018 | β |
| Pathways from autism spectrum disorder diagnosis to genetic testing. | Barton KS et al. | β | 2018 | β |
| Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays. | Hoppman N et al. | β | 2018 | β |
| Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. | Wojcik MH et al. | β | 2018 | β |
| Phase determination using chromosomal microarray and fluorescence inΒ situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. | Williams ES et al. | β | 2018 | β |
| Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability. | Kim HJ et al. | β | 2018 | β |
| Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada. | Armour CM et al. | β | 2018 | β |
| Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies. | Maini I et al. | β | 2018 | β |
| Prenatal diagnosis and pregnancy outcome analysis of thickened nuchal fold in the second trimester. | Li L et al. | β | 2018 | β |
| Prenatal diagnosis by chromosomal microarray analysis. | Levy B et al. | β | 2018 | β |
| Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. | Zou Z et al. | β | 2018 | β |
| Progress in the genetics of autism spectrum disorder. | Woodbury-Smith M et al. | β | 2018 | β |
| Quality control guidelines for clinical-grade human induced pluripotent stem cell lines. | Sullivan S et al. | β | 2018 | β |
| Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy. | Kessi M et al. | β | 2018 | β |
| Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder. | Fan Y et al. | β | 2018 | β |
| Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders. | Krgovic D et al. | β | 2018 | β |
| Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. | Homma TK et al. | β | 2018 | β |
| Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice. | Mates J et al. | β | 2018 | β |
| Role of Striatal Direct Pathway 2-Arachidonoylglycerol Signaling in Sociability and Repetitive Behavior. | Shonesy BC et al. | β | 2018 | β |
| Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. | Colombo EA et al. | β | 2018 | β |
| Screening for fetal chromosomal and subchromosomal disorders. | Harris S et al. | β | 2018 | β |
| Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137. | Costa EOA et al. | β | 2018 | β |
| Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability. | Han JY et al. | β | 2018 | β |
| TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. | Suleiman J et al. | β | 2018 | β |
| The clinical implementation of copy number detection in the age of next-generation sequencing. | Hehir-Kwa JY et al. | β | 2018 | β |
| The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. | Liu J et al. | β | 2018 | β |
| The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders. | Scionti F et al. | β | 2018 | β |
| The etiology of VACTERL association: Current knowledge and hypotheses. | Solomon BD | β | 2018 | β |
| The Genomic Health of Human Pluripotent Stem Cells: Genomic Instability and the Consequences on Nuclear Organization. | Henry MP et al. | β | 2018 | β |
| The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability. | Mortreux J et al. | β | 2018 | β |
| The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis. | Stosic M et al. | β | 2018 | β |
| Towards precision nephrology: the opportunities and challenges of genomic medicine. | Nestor JG et al. | β | 2018 | β |
| Use of Genetic Testing for Primary Immunodeficiency Patients. | Heimall JR et al. | β | 2018 | β |
| Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. | ChΓ©rot E et al. | β | 2018 | β |
| Utility of chromosomal microarray in anomalous fetuses. | Parchem JG et al. | β | 2018 | β |
| Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. | Jamuar SS et al. | β | 2018 | β |
| What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics. | Nurnberger JI et al. | β | 2018 | β |
| When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens. | Reimers RM et al. | β | 2018 | β |
| Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). | Waggoner D et al. | β | 2018 | β |
| 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. | Wessel K et al. | β | 2017 | β |
| Advances in paediatrics in 2016: current practices and challenges in allergy, autoimmune diseases, cardiology, endocrinology, gastroenterology, infectious diseases, neonatology, nephrology, neurology, nutrition, pulmonology. | Caffarelli C et al. | β | 2017 | β |
| Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay. | Lee KY et al. | β | 2017 | β |
| Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women. | Cheng HYH et al. | β | 2017 | β |
| Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. | Hnoonual A et al. | β | 2017 | β |
| Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies. | Lee SH et al. | β | 2017 | β |
| [Clinical and genetic study of an infant with Alagille syndrome: identification of a novel chromosomal interstitial deletion including JAG1 gene]. | Li H et al. | β | 2017 | β |
| Copy Number Variation Disorders. | Shaikh TH | β | 2017 | β |
| Current evidence-based recommendations on investigating children with global developmental delay. | Mithyantha R et al. | β | 2017 | β |
| Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience. | Zanardo ΓA et al. | β | 2017 | β |
| De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report. | Al Dhaibani MA et al. | β | 2017 | β |
| Detection of an Underlying 22q11.2 Duplication in a Female Neonate With Trisomy 18. | Turbiville DE et al. | β | 2017 | β |
| Expanding the genetic heterogeneity of intellectual disability. | Anazi S et al. | β | 2017 | β |
| Futuristic Look at Genetic and Birth Defect Diagnoses and Treatments. | Gregg AR | β | 2017 | β |
| Genomic Disorders in Psychiatry-What Does the Clinician Need to Know? | Lowther C et al. | β | 2017 | β |
| Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. | Bettencourt C et al. | β | 2017 | β |
| HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing. | Imai-Okazaki A et al. | β | 2017 | β |
| Identification of novel candidate disease genes from de novo exonic copy number variants. | Gambin T et al. | β | 2017 | β |
| Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. | Lowther C et al. | β | 2017 | β |
| Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. | Borghesi A et al. | β | 2017 | β |
| Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? | Mullegama SV et al. | β | 2017 | β |
| Molecular Genetic Analysis of Human Endometrial Mesenchymal Stem Cells That Survived Sublethal Heat Shock. | Vinogradov AE et al. | β | 2017 | β |
| Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization. | Papadopoulou Z et al. | β | 2017 | β |
| Patient With Delayed Development Resulting From <i>De Novo</i> Duplication of 7q36.1-q36.3 and Deletion of 9p24.3. | Choi A et al. | β | 2017 | β |
| Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions. | Zahed H et al. | β | 2017 | β |
| Prenatal and Postnatal Genetic Testing: Why, How, and When? | Stoler JM | β | 2017 | β |
| Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability. | Borlot F et al. | β | 2017 | β |
| Semiconductor Sequencing Analysis of Chromosomal Copy Number Variations in Spontaneous Miscarriage. | Wang MZ et al. | β | 2017 | β |
| Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. | Fernandez BA et al. | β | 2017 | β |
| The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. | d'Orsi G et al. | β | 2017 | β |
| Uniparental disomy and prenatal phenotype: Two case reports and review. | Li X et al. | β | 2017 | β |