DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
paper
Cited
Public
Unavailable
- Authors
- Firth, Helen V; Richards, Shola M; Bevan, A Paul; Clayton, Stephen; Corpas, Manuel; Rajan, Diana; Van Vooren, Steven; Moreau, Yves; Pettett, Roger M; Carter, Nigel P
- Year
- 2009
- Journal
- American journal of human genetics
- PMID
- 19344873
- DOI
- 10.1016/j.ajhg.2009.03.010
- PMCID
- PMC2667985
Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretation problematic and genotype-phenotype correlations uncertain. Identification of patients sharing a genomic rearrangement and having phenotypic features in common leads to greater certainty in the pathogenic nature of the rearrangement and enables new syndromes to be defined. To facilitate the analysis of these rare events, we have developed an interactive web-based database called DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) which incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations. DECIPHER catalogs common copy-number changes in normal populations and thus, by exclusion, enables changes that are novel and potentially pathogenic to be identified. DECIPHER enhances genetic counseling by retrieving relevant information from a variety of bioinformatics resources. Known and predicted genes within an aberration are listed in the DECIPHER patient report, and genes of recognized clinical importance are highlighted and prioritized. DECIPHER enables clinical scientists worldwide to maintain records of phenotype and chromosome rearrangement for their patients and, with informed consent, share this information with the wider clinical research community through display in the genome browser Ensembl. By sharing cases worldwide, clusters of rare cases having phenotype and structural rearrangement in common can be identified, leading to the delineation of new syndromes and furthering understanding of gene function.
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| CRISPR/Cas9 targeting of passenger single nucleotide variants in haploinsufficient or essential genes expands cancer therapy prospects. | Kim H et al. | β | 2024 | β |
| Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. | Stenton SL et al. | β | 2024 | β |
| Curating genomic disease-gene relationships with Gene2PhenotypeΒ (G2P). | Yates TM et al. | β | 2024 | β |
| Curation of causal interactions mediated by genes associated with autism accelerates the understanding of gene-phenotype relationships underlying neurodevelopmental disorders. | Iannuccelli M et al. | β | 2024 | β |
| Deficiency of FRMD5 results in neurodevelopmental dysfunction and autistic-like behavior in mice. | Lyu TJ et al. | β | 2024 | β |
| De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex. | Jelin AC et al. | β | 2024 | β |
| Description of <i>Pegethrix niliensis</i> sp. nov., a Novel Cyanobacterium from the Nile River Basin, Egypt: A Polyphasic Analysis and Comparative Study of Related Genera in the Oculatellales Order. | Hentschke GS et al. | β | 2024 | β |
| Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. | Tolonen JP 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 |
| Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations. | Kooshavar D et al. | β | 2024 | β |
| Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis. | Whitaker F et al. | β | 2024 | β |
| Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids. | Kysilov B et al. | β | 2024 | β |
| Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy. | Bergner CG et al. | β | 2024 | β |
| Dyrk1a is required for craniofacial development in Xenopus laevis. | Johnson HK et al. | β | 2024 | β |
| Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart. | Waheed-Ullah Q et al. | β | 2024 | β |
| Emergence of the ZNF675 Gene During Primate Evolution-Influenced Human Neurodevelopment Through Changing HES1 Autoregulation. | Lodewijk GA et al. | β | 2024 | β |
| Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. | Kalm T 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 |
| Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. | Urpa L et al. | β | 2024 | β |
| Examining the role of common variants in rare neurodevelopmental conditions. | Huang QQ et al. | β | 2024 | β |
| Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease. | Wallenius J et al. | β | 2024 | β |
| Exploring the cyanobacterial diversity in Portugal: Description of four new genera from LEGE-CC using theΒ polyphasic approach. | de Oliveira FL et al. | β | 2024 | β |
| Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. | Rinaldi B et al. | β | 2024 | β |
| Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms. | Wright MW et al. | β | 2024 | β |
| Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells. | Gilmore RB et al. | β | 2024 | β |
| Genetic analysis of ocular tumour-associated genes using large genomic datasets: insights into selection constraints and variant representation in the population. | Tanner A et al. | β | 2024 | β |
| Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. | Tritto V et al. | β | 2024 | β |
| Genetic variants in BCL-2 family genes influence the risk of non-syndromic cleft lip with or without cleft palate. | Cui X et al. | β | 2024 | β |
| Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts. | Xu X 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 |
| GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity. | Kleinendorst L et al. | β | 2024 | β |
| GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM. | Rahit KMTH et al. | β | 2024 | β |
| Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. | PΓ©rez Baca MDR et al. | β | 2024 | β |
| Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants. | Silva DB et al. | β | 2024 | β |
| Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. | Ansari M et al. | β | 2024 | β |
| High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. | Gustafson JA et al. | β | 2024 | β |
| Histone-binding protein RBBP4 is necessary to promote neurogenesis in the developing mouse neocortical progenitors. | Dhanya SK et al. | β | 2024 | β |
| hnRNPs: roles in neurodevelopment and implication for brain disorders. | Tilliole P et al. | β | 2024 | β |
| Human Genetics of Congenital Heart Defects. | Wilsdon A et al. | β | 2024 | β |
| Huntington disease-like 2: insight into neurodegeneration from an African disease. | Krause A et al. | β | 2024 | β |
| Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( <i>TRPM6</i> ) Gene. | Jain G et al. | β | 2024 | β |
| Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders. | Azidane S et al. | β | 2024 | β |
| Impact of prenatal genomics on clinical genetics practice. | Zemet R et al. | β | 2024 | β |
| Improved phenotypic classification of male infertility to promote discovery of genetic causes. | Wyrwoll MJ et al. | β | 2024 | β |
| Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol. | Low KJ et al. | β | 2024 | β |
| Increased enhancer-promoter interactions during developmental enhancer activation in mammals. | Chen Z et al. | β | 2024 | β |
| Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family. | Goel H et al. | β | 2024 | β |
| Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel. | Drackley A et al. | β | 2024 | β |
| Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders. | Wigdor EM et al. | β | 2024 | β |
| <i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. | Kraemer D 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 |
| Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance. | Subramanian K et al. | β | 2024 | β |
| Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes. | Showpnil IA et al. | β | 2024 | β |
| Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. | Blackburn PR et al. | β | 2024 | β |
| Loss of transient receptor potential channel 5 causes obesity and postpartum depression. | Li Y et al. | β | 2024 | β |
| <i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome. | Bertrand M et al. | β | 2024 | β |
| Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles. | Haghshenas S et al. | β | 2024 | β |
| Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder. | Huang YJ et al. | β | 2024 | β |
| Misexpression of inactive genes in whole blood is associated with nearby rare structural variants. | Vanderstichele T et al. | β | 2024 | β |
| Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. | Yang F et al. | β | 2024 | β |
| Modelling human genetic disorders in Xenopus tropicalis. | Willsey HR et al. | β | 2024 | β |
| Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. | Sewani S et al. | β | 2024 | β |
| Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort. | Srivastava P et al. | β | 2024 | β |
| Next-generation sequencing and bioinformatics in rare movement disorders. | Zech M et al. | β | 2024 | β |
| Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. | Marshall AE et al. | β | 2024 | β |
| Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants. | Lord J et al. | β | 2024 | β |
| Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in <i>HCCS</i>-Related Disease. | Reis LM et al. | β | 2024 | β |
| Novel Splice-Altering Variants in the <i>CHM</i> and <i>CACNA1F</i> Genes Causative of X-Linked Choroideremia and Cone Dystrophy. | Ridgeway AR 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 |
| Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes. | Orlic-Milacic M et al. | β | 2024 | β |
| Pleiotropic functions of TAO kinases and their dysregulation in neurological disorders. | Byeon S et al. | β | 2024 | β |
| Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals. | Dingemans AJM et al. | β | 2024 | β |
| ProtVar: mapping and contextualizing human missense variation. | Stephenson JD et al. | β | 2024 | β |
| PSMC5 insufficiency and P320R mutation impair proteasome function. | Yu ZQ et al. | β | 2024 | β |
| Quantifying constraint in the human mitochondrial genome. | Lake NJ et al. | β | 2024 | β |
| Rare copy-number variants as modulators of common disease susceptibility. | Auwerx C et al. | β | 2024 | β |
| Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. | Garber A et al. | β | 2024 | β |
| Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk. | Shin T et al. | β | 2024 | β |
| REEV: review, evaluate and explain variants. | Hramyka D et al. | β | 2024 | β |
| Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases. | Yuan X et al. | β | 2024 | β |
| Review of Computational Methods and Database Sources for Predicting the Effects of Coding Frameshift Small Insertion and Deletion Variations. | Ge F et al. | β | 2024 | β |
| RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model. | Park JW et al. | β | 2024 | β |
| RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront. | Vanlerberghe C et al. | β | 2024 | β |
| Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report. | Uppinkudru C et al. | β | 2024 | β |
| STIGMA: Single-cell tissue-specific gene prioritization using machine learning. | Balachandran S et al. | β | 2024 | β |
| Streamlined identification of clinically and functionally relevant genetic regulators of lower-tract urogenital development. | Haller M et al. | β | 2024 | β |
| Structural Features and Physiological Associations of Human 14-3-3ΞΆ Pseudogenes. | Lughmani H et al. | β | 2024 | β |
| Syndromic Retinitis Pigmentosa: A 15-Patient Study. | Holanda IP et al. | β | 2024 | β |
| The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. | Gogate A et al. | β | 2024 | β |
| The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genesΒ and diseases across species. | Putman TE et al. | β | 2024 | β |
| The rate of W chromosome degeneration across multiple avian neo-sex chromosomes. | Sigeman H et al. | β | 2024 | β |
| The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis,Β and polycystic ovary syndrome. | Witham M et al. | β | 2024 | β |
| Tissue-specific <i>O-</i>GlcNAcylation profiling identifies substrates in translational machinery in <i>Drosophila</i> mushroom body contributing to olfactory learning. | Yu H et al. | β | 2024 | β |
| Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. | Roberts AM et al. | β | 2024 | β |
| Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients. | Novis LE et al. | β | 2024 | β |
| VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome. | Wang Z et al. | β | 2024 | β |
| Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. | Accogli A et al. | β | 2024 | β |
| Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. | Shepherdson JL et al. | β | 2024 | β |
| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. | Bassani S et al. | β | 2024 | β |
| Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder. | Yahia A et al. | β | 2024 | β |
| Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients. | Zeuli R et al. | β | 2024 | β |
| 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review. | Bouassida M et al. | β | 2023 | β |
| 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay. | Kawanami Y et al. | β | 2023 | β |
| 5p13 microduplication in a malformed fetus and his unaffected father. | Kariminejad A et al. | β | 2023 | β |
| A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. | Snijders Blok L et al. | β | 2023 | β |
| A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformation. | de Boer E et al. | β | 2023 | β |
| A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes <i>IRF6</i>, <i>GRHL3</i>, and <i>TBX22</i>. | Slavec L et al. | β | 2023 | β |
| A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome. | Ben-Mahmoud A et al. | β | 2023 | β |
| Altered Gut Microbiota as Potential Biomarkers for Autism Spectrum Disorder in Early Childhood. | Zhao Y et al. | β | 2023 | β |
| Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. | de Prisco N et al. | β | 2023 | β |
| A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. | Strong A et al. | β | 2023 | β |
| Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways. | Wilson K et al. | β | 2023 | β |
| An Integrated Pipeline for Trio-Rapid Genome Sequencing in Critically Ill Infants. | Wang X et al. | β | 2023 | β |
| A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification. | Serpen JY et al. | β | 2023 | β |
| A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review. | Moschella A et al. | β | 2023 | β |
| Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses. | Pan L et al. | β | 2023 | β |
| A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development. | Asmar AJ et al. | β | 2023 | β |
| Bi-allelic variants in INTS11 are associated with a complex neurological disorder. | Tepe B et al. | β | 2023 | β |
| Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion. | Stabile M et al. | β | 2023 | β |
| Case Report-An Inherited Loss-of-Function <i>NRXN3</i> Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. | Feichtinger RG et al. | β | 2023 | β |
| Case report: A novel <i>STXBP1</i> splice variant and the landscape of splicing-involved <i>STXBP1</i>-related disorders. | Wang H et al. | β | 2023 | β |
| Case Report: Identification of microduplication in the chromosomal 2p16.1p15 region in an infant suffering from pulmonary arterial hypertension. | Wang X et al. | β | 2023 | β |
| Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review. | Wu Y et al. | β | 2023 | β |
| CDKL5 Deficiency Disorder Without Epilepsy. | Aznar-LaΓn G et al. | β | 2023 | β |
| Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. | Salamon I et al. | β | 2023 | β |
| CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. | Gehin C et al. | β | 2023 | β |
| Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders. | Muhammad T et al. | β | 2023 | β |
| Chromosomal damage in occupationally exposed health professionals assessed by two cytogenetic methods. | Kadlcikova D et al. | β | 2023 | β |
| Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease. | Hanssen R 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 Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease. | Dirvanskyte P 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 exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. | Huth EA et al. | β | 2023 | β |
| Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14. | Jackson A et al. | β | 2023 | β |
| Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome. | Ramond F et al. | β | 2023 | β |
| CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. | Macnee M et al. | β | 2023 | β |
| Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test. | Sheth F et al. | β | 2023 | β |
| Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis. | Zhou S et al. | β | 2023 | β |
| Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy. | NordenskjΓΆld A et al. | β | 2023 | β |
| Correspondence on "Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder" by Cuinat etΒ al. | Sheng W et al. | β | 2023 | β |
| CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. | Oppermann H et al. | β | 2023 | β |
| DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data. | Foreman J et al. | β | 2023 | β |
| DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants. | Rahaie Z et al. | β | 2023 | β |
| DEGS1 -related leukodystrophy: a clinical report and review of literature. | Wong MST et al. | β | 2023 | β |
| De novo mutations disturb early brain development more frequently than common variants in schizophrenia. | Itai T et al. | β | 2023 | β |
| De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism. | TΓΌrkyΔ±lmaz A et al. | β | 2023 | β |
| De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. | Timberlake AT et al. | β | 2023 | β |
| Detecting genomic deletions from high-throughput sequence data with unsupervised learning. | Li X et al. | β | 2023 | β |
| Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study. | Eberhardt RY et al. | β | 2023 | β |
| Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families. | AlAbdi L et al. | β | 2023 | β |
| diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype. | Huang D et al. | β | 2023 | β |
| Effects of copy number variations on longevity in late-onset Alzheimer's disease patients: insights from a causality network analysis. | Hao Y et al. | β | 2023 | β |
| Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway. | Guo Y et al. | β | 2023 | β |
| Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels. | Cannon S et al. | β | 2023 | β |
| Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. | Morsy H et al. | β | 2023 | β |
| Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients. | Paprocka J et al. | β | 2023 | β |
| Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion. | Montenegro MM 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 |
| Familial 5.29Β Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review. | Xu HH et al. | β | 2023 | β |
| Family-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia. | Rammos A et al. | β | 2023 | β |
| Feeding laying hens with lactobacilli improves internal egg quality and animal health. | MΓΆrschbΓ€cher AP et al. | β | 2023 | β |
| Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. | Palmer EE 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 |
| Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. | Record CJ et al. | β | 2023 | β |
| Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients. | PΓ‘l M et al. | β | 2023 | β |
| Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes. | Lansdon LA et al. | β | 2023 | β |
| Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans. | Zhang H et al. | β | 2023 | β |
| Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations. | Fabian J et al. | β | 2023 | β |
| Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. | Wright CF et al. | β | 2023 | β |
| Genomic Disorders in CKD across the Lifespan. | Verbitsky M et al. | β | 2023 | β |
| Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. | Langhammer F et al. | β | 2023 | β |
| High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. | Belanger Deloge R et al. | β | 2023 | β |
| <i>De novo</i> 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report. | Libotte F et al. | β | 2023 | β |
| Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits. | More RP 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 |
| <i>FGF9</i>-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family. | Schmetz A et al. | β | 2023 | β |
| IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders. | Aitken S 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 |
| Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review. | Pugnaloni F et al. | β | 2023 | β |
| Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes. | Yankee TN et al. | β | 2023 | β |
| Interneuron odyssey: molecular mechanisms of tangential migration. | Toudji I et al. | β | 2023 | β |
| Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype. | Almoosawy N et al. | β | 2023 | β |
| Intratumoral androgen biosynthesis associated with 3Ξ²-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer. | Ganguly S et al. | β | 2023 | β |
| Investigation of UTR Variants by Computational Approaches Reveal Their Functional Significance in <i>PRKCI</i> Gene Regulation. | Shah H et al. | β | 2023 | β |
| Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy. | Hayashi T et al. | β | 2023 | β |
| IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies. | Xenophontos M et al. | β | 2023 | β |
| Jak2 and Jaw Muscles Are Required for Buccopharyngeal Membrane Perforation during Mouth Development. | Dickinson AJG | β | 2023 | β |
| Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders. | Valencia AM et al. | β | 2023 | β |
| Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5. | Oliwa A et al. | β | 2023 | β |
| Microbial dark matter sequences verification in amplicon sequencing and environmental metagenomics data. | Barak H et al. | β | 2023 | β |
| Microdeletions and microduplications linked to severe congenital disorders in infertile men. | Kikas T et al. | β | 2023 | β |
| Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. | Levitin MO et al. | β | 2023 | β |
| Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. | Calame DG et al. | β | 2023 | β |
| MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly. | Tkemaladze T et al. | β | 2023 | β |
| Multiple copy number variation in a patient with Kleefstra syndrome. | Lee TN et al. | β | 2023 | β |
| Mycoplasma DnaK increases DNA copy number variants in vivo. | Benedetti F et al. | β | 2023 | β |
| Newfound features associated with Hennekam Syndrome (<i>Intestinal Lymphangiectasia-Lymphedema-Intellectual-Disability Syndrome</i>) complicated with comorbid Waldmann's Disease resulting in Celiac Disease. | Safari Vejin T et al. | β | 2023 | β |
| New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients. | De Falco A et al. | β | 2023 | β |
| New insights into the molecular basis of spinal neurofibromatosis type 1. | Bettinaglio P et al. | β | 2023 | β |
| New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception. | Serra G et al. | β | 2023 | β |
| Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report. | Onate-Quiroz KV et al. | β | 2023 | β |
| Novel homozygous leptin receptor mutation in an infant with monogenic obesity. | Boro H et al. | β | 2023 | β |
| Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability. | Grosse M et al. | β | 2023 | β |
| Oncogenic <i>CDK13</i> mutations impede nuclear RNA surveillance. | Insco ML et al. | β | 2023 | β |
| Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. | de Bruijn SE et al. | β | 2023 | β |
| Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. | Engwerda A et al. | β | 2023 | β |
| PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. | Dingemans AJM et al. | β | 2023 | β |
| PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants. | Xu Z et al. | β | 2023 | β |
| PheSom: a term frequency-based method for measuring human phenotype similarity on the basis of MeSH vocabulary. | Liu X et al. | β | 2023 | β |
| Pleiotropy of autism-associated chromatin regulators. | Lasser M et al. | β | 2023 | β |
| POSTRE: a tool to predict the pathological effects of human structural variants. | SΓ‘nchez-Gaya V et al. | β | 2023 | β |
| POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. | Rossi A et al. | β | 2023 | β |
| Protein structure-based evaluation of missense variants: Resources, challenges and future directions. | David A et al. | β | 2023 | β |
| Proximal 1q21 duplication: A syndrome or a susceptibility locus? | Levy M et al. | β | 2023 | β |
| PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. | Grimes H et al. | β | 2023 | β |
| Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies. | MartΓnez Anaya D et al. | β | 2023 | β |
| Queuosine-tRNA promotes sex-dependent learning and memory formation by maintaining codon-biased translation elongation speed. | Cirzi C et al. | β | 2023 | β |
| Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability. | Nascimento CG et al. | β | 2023 | β |
| RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta. | Ludwig K et al. | β | 2023 | β |
| SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing. | Ding Q et al. | β | 2023 | β |
| SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum. | Okoye O et al. | β | 2023 | β |
| Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. | Duggirala N et al. | β | 2023 | β |
| SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. | Bogaert E et al. | β | 2023 | β |
| Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. | Vetro A et al. | β | 2023 | β |
| Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases. | Pei XM et al. | β | 2023 | β |
| The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3. | Ke X et al. | β | 2023 | β |
| The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes. | Horani A et al. | β | 2023 | β |
| The holistic approach to the <i>CHRNA7</i> gene, <i>hsa-miR-3158-5p</i>, and 15q13.3 hotspot CNVs in migraineurs. | Yasin S et al. | β | 2023 | β |
| The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023. | Quaio CRDC et al. | β | 2023 | β |
| The molecular genetic landscape of human brain size variation. | Seidlitz J et al. | β | 2023 | β |
| The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. | Aerden M et al. | β | 2023 | β |
| The OREGANO knowledge graph for computational drug repurposing. | Boudin M 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 Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum. | Rumman N et al. | β | 2023 | β |
| The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review. | Rraku E et al. | β | 2023 | β |
| The Role of MEF2 Transcription Factor Family in Neuronal Survival and Degeneration. | Lisek M et al. | β | 2023 | β |
| The UCSC Genome Browser database: 2023 update. | Nassar LR et al. | β | 2023 | β |
| Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate. | Robinson K et al. | β | 2023 | β |
| Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype. | Wafik M et al. | β | 2023 | β |
| Using human genetics to improve safety assessment of therapeutics. | Carss KJ et al. | β | 2023 | β |
| Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. | Deshwar AR et al. | β | 2023 | β |
| Xenbase: key features and resources of the Xenopus model organism knowledgebase. | Fisher M et al. | β | 2023 | β |
| X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. | Kolvenbach CM et al. | β | 2023 | β |
| ZDHHC15 as a candidate gene for autism spectrum disorder. | Casellas-Vidal D 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 |
| 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis. | Warren EB et al. | β | 2022 | β |
| A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships. | Taylor JP et al. | β | 2022 | β |
| A clinician's guide to omics resources in dermatology. | Doolan BJ et al. | β | 2022 | β |
| A comprehensive list of human microdeletion and microduplication syndromes. | Wetzel AS et al. | β | 2022 | β |
| A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. | GonzΓ‘lez-Del Pozo M et al. | β | 2022 | β |
| A cross-disorder dosage sensitivity map of the human genome. | Collins RL et al. | β | 2022 | β |
| ADAMTS6: Emerging roles in cardiovascular, musculoskeletal and cancer biology. | Mead TJ | β | 2022 | β |
| A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. | Marwaha S et al. | β | 2022 | β |
| A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. | Morales J et al. | β | 2022 | β |
| Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. | Lubin E et al. | β | 2022 | β |
| A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype. | Viitasalo L 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 |
| Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders. | Halfmeyer I et al. | β | 2022 | β |
| A practical guide to genetic testing in endocrinology. | Izatt L et al. | β | 2022 | β |
| A rigorous <i>in silico</i> genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders. | Ben-Mahmoud A 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 |
| Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory. | Caswell RC et al. | β | 2022 | β |
| Automated prediction of the clinical impact of structural copy number variations. | GaΕΎiovΓ‘ M et al. | β | 2022 | β |
| A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases. | Yang J et al. | β | 2022 | β |
| Biallelic variants in CENPF causing a phenotype distinct from StrΓΈmme syndrome. | Cappuccio G et al. | β | 2022 | β |
| Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability. | Mitchell CW et al. | β | 2022 | β |
| Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. | Lupski JR | β | 2022 | β |
| Biomedical data, computational methods and tools for evaluating disease-disease associations. | Xiang J et al. | β | 2022 | β |
| Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAPΒ 2βK2 gene. | Serra G et al. | β | 2022 | β |
| Case report: Genetic defects in laminin Ξ±5 cause infantile steroid-resistant nephrotic syndrome. | Sunwoo Y et al. | β | 2022 | β |
| Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in <i>ADGRL3</i> (<i>LPHN3</i>) and Two Pseudogenes. | Maurer MH et al. | β | 2022 | β |
| Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies. | Friedman JM et al. | β | 2022 | β |
| Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. | Hu X et al. | β | 2022 | β |
| Charcot-Marie-Tooth disease type 2CC due to <i>NEFH</i> variants causes a progressive, non-length-dependent, motor-predominant phenotype. | Pipis M et al. | β | 2022 | β |
| Children with a rare congenital genetic disorder: a systematic review of parent experiences. | von der Lippe C et al. | β | 2022 | β |
| Chromatin dynamics in human brain development and disease. | Valencia AM et al. | β | 2022 | β |
| Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. | Budisteanu M et al. | β | 2022 | β |
| Clinical impact of variants in non-coding regions of SHOX - Current knowledge. | Spurna Z et al. | β | 2022 | β |
| Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies. | Lansdon LA et al. | β | 2022 | β |
| CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank. | Fitzgerald T et al. | β | 2022 | β |
| Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A. | Elmasri M et al. | β | 2022 | β |
| Complex genomic rearrangements: an underestimated cause of rare diseases. | Schuy J et al. | β | 2022 | β |
| Contribution of model organism phenotypes to the computational identification of human disease genes. | Alghamdi SM 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 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 |
| CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review. | Acosta-Baena N et al. | β | 2022 | β |
| Current and Future Approaches to Classify VUSs in LGMD-Related Genes. | Li C et al. | β | 2022 | β |
| DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. | Foreman J et al. | β | 2022 | β |
| DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning. | Althagafi A et al. | β | 2022 | β |
| De novo missense variants in FBXO11 alter its protein expression and subcellular localization. | Gregor A et al. | β | 2022 | β |
| De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. | Lu S et al. | β | 2022 | β |
| Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease. | Hertz JM 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 |
| Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype. | Ignatius E et al. | β | 2022 | β |
| DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems. | FernΓ‘ndez Perrone AL et al. | β | 2022 | β |
| DYNC1H1de novo mutation, spinal muscular atrophy and attention problems. | FernΓ‘ndez Perrone AL et al. | β | 2022 | β |
| Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy -Β A Case Report. | Cao C et al. | β | 2022 | β |
| E-liquids and vanillin flavoring disrupts retinoic acid signaling and causes craniofacial defects in Xenopus embryos. | Dickinson AJG et al. | β | 2022 | β |
| Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. | Sy MR et al. | β | 2022 | β |
| Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. | Palmer DS et al. | β | 2022 | β |
| Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. | Melland H et al. | β | 2022 | β |
| Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot. | Sun H et al. | β | 2022 | β |
| Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. | Taylor J et al. | β | 2022 | β |
| Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes. | Tanner A et al. | β | 2022 | β |
| First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature. | Demir Ε et al. | β | 2022 | β |
| Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. | Pavinato L et al. | β | 2022 | β |
| Further delineation of phenotypic spectrum of SCN2A-related disorder. | Richardson R et al. | β | 2022 | β |
| Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature. | Murch O et al. | β | 2022 | β |
| Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases. | Santen GWE et al. | β | 2022 | β |
| Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. | Seth A et al. | β | 2022 | β |
| GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation. | Manshaei R 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 |
| Genome sequencing data analysis for rare disease gene discovery. | Umlai UI et al. | β | 2022 | β |
| Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. | Chan AJS et al. | β | 2022 | β |
| Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. | Kayumi S et al. | β | 2022 | β |
| Germline intergenic duplications at Xq26.1 underlie Bazex-DuprΓ©-Christol basal cell carcinoma susceptibility syndrome. | Liu Y et al. | β | 2022 | β |
| Hematopoietic Cells from Pluripotent Stem Cells: Hope and Promise for the Treatment of Inherited Blood Disorders. | Rao I et al. | β | 2022 | β |
| Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster. | Couzens A et al. | β | 2022 | β |
| Heterogeneity of Accompanying Phenotypes and Genomic Variants Involved in Microtia. | Huang X et al. | β | 2022 | β |
| Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. | von der Lippe C et al. | β | 2022 | β |
| How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. | Wortmann SB et al. | β | 2022 | β |
| <i>Clin.iobio</i>: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics. | Ward A et al. | β | 2022 | β |
| Identification and quantification of oligogenic loss-of-function disorders. | Stefanski A et al. | β | 2022 | β |
| Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. | Zhong G et al. | β | 2022 | β |
| Identification of a <i>de novo</i> mutation of the <i>FOXG1</i> gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies. | Lu G et al. | β | 2022 | β |
| Identification of genetic variants influencing methylation in brain with pleiotropic effects on psychiatric disorders. | Pineda-Cirera L et al. | β | 2022 | β |
| Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias. | Scott CH et al. | β | 2022 | β |
| Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. | Lee W et al. | β | 2022 | β |
| Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. | Hardcastle A et al. | β | 2022 | β |
| Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift. | Urnikyte A et al. | β | 2022 | β |
| Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes. | Winchester EW et al. | β | 2022 | β |
| Interplay in neural functions of cell adhesion molecule close homolog of L1 (CHL1) and Programmed Cell Death 6 (PDCD6). | Loers G et al. | β | 2022 | β |
| Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases. | Lee JH | β | 2022 | β |
| <i>PTCHD1</i>: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene. | Pastore SF et al. | β | 2022 | β |
| KMT5B is required for early motor development. | Hulen J et al. | β | 2022 | β |
| Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. | Hamanaka K et al. | β | 2022 | β |
| Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia. | Boerkoel PK et al. | β | 2022 | β |
| Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. | Chander V et al. | β | 2022 | β |
| Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). | Hetzelt KLML et al. | β | 2022 | β |
| Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter? | Hyblova M et al. | β | 2022 | β |
| [Midnasal stenosis: A rare differential diagnosis to choanal atresia]. | Rovas G et al. | β | 2022 | β |
| Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. | de Boer E et al. | β | 2022 | β |
| Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators. | DeΓ‘k G et al. | β | 2022 | β |
| Modeling gene Γ environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression. | Seah C et al. | β | 2022 | β |
| Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions. | Terkelsen T et al. | β | 2022 | β |
| Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report. | Kannan S et al. | β | 2022 | β |
| Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study. | Lace B et al. | β | 2022 | β |
| Mutation spectrum of congenital heart disease in a consanguineous Turkish population. | Dong W et al. | β | 2022 | β |
| Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. | Commission on Novel Technologies for Neurodevelopmental Copy Number Variants | β | 2022 | β |
| New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving <i>TWIST1</i> regulatory elements. | Romanelli Tavares VL et al. | β | 2022 | β |
| NMDA Receptor C-Terminal Domain Signalling in Development, Maturity, and Disease. | Haddow K et al. | β | 2022 | β |
| Novel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndrome. | Arslan AB et al. | β | 2022 | β |
| Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. | Fischer J et al. | β | 2022 | β |
| Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations. | Lepamets M et al. | β | 2022 | β |
| Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada. | Osmond M et al. | β | 2022 | β |
| PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. | Rasi C et al. | β | 2022 | β |
| PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning. | Chen Z et al. | β | 2022 | β |
| PhenomeCentral: 7 years of rare disease matchmaking. | Osmond M et al. | β | 2022 | β |
| Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients. | Lin D et al. | β | 2022 | β |
| Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by <i>NAA15</i> Pathogenic Variants. | Tian Y et al. | β | 2022 | β |
| Predictive functional, statistical and structural analysis of <i>CSNK2A1</i> and <i>CSNK2B</i> variants linked to neurodevelopmental diseases. | Unni P et al. | β | 2022 | β |
| Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes. | Bastos GC et al. | β | 2022 | β |
| Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. | Zouk H et al. | β | 2022 | β |
| Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications. | Schobers G et al. | β | 2022 | β |
| Rectal swabs are a reliable method of assessing the colonic microbiome. | Turner G et al. | β | 2022 | β |
| Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. | Tessadori F et al. | β | 2022 | β |
| Re-evaluation of missense variant classifications in NF2. | Sadler KV et al. | β | 2022 | β |
| Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication. | Da Silva JD et al. | β | 2022 | β |
| Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment. | Melliou S et al. | β | 2022 | β |
| Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing. | McDermott H et al. | β | 2022 | β |
| Rural environment reduces allergic inflammation by modulating the gut microbiota. | Yang Z et al. | β | 2022 | β |
| Screening of potential novel candidate genes in schwannomatosis patients. | Perez-Becerril C et al. | β | 2022 | β |
| seqr: A web-based analysis and collaboration tool for rare disease genomics. | Pais LS et al. | β | 2022 | β |
| Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. | Yuan B et al. | β | 2022 | β |
| Skeletal Class III Malocclusion Is Associated with <i>ADAMTS2</i> Variants and Reduced Expression in a Familial Case. | Yao S et al. | β | 2022 | β |
| SMOC2 promotes an epithelial-mesenchymal transition and a pro-metastatic phenotype in epithelial cells of renal cell carcinoma origin. | Feng D et al. | β | 2022 | β |
| StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. | Sharo AG et al. | β | 2022 | β |
| Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. | LeitΓ£o E et al. | β | 2022 | β |
| TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. | Hertzberg J et al. | β | 2022 | β |
| TADeus2: aΒ web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure. | Poszewiecka B et al. | β | 2022 | β |
| Targeted copy number variant identification across the neurodegenerative disease spectrum. | Dilliott AA et al. | β | 2022 | β |
| TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. | Hijazi H et al. | β | 2022 | β |
| The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | Fennell AP et al. | β | 2022 | β |
| The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders. | Jolly LA et al. | β | 2022 | β |
| The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. | DiStefano MT et al. | β | 2022 | β |
| The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing. | Thomson KL et al. | β | 2022 | β |
| The individual and global impact of copy-number variants on complex human traits. | Auwerx C et al. | β | 2022 | β |
| The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. | Du H et al. | β | 2022 | β |
| The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. | Popp B et al. | β | 2022 | β |
| The Role of Vti1a in Biological Functions and Its Possible Role in Nervous System Disorders. | Tang F et al. | β | 2022 | β |
| The Role of Zinc and NMDA Receptors in Autism Spectrum Disorders. | Lee K et al. | β | 2022 | β |
| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. | Mohajeri K et al. | β | 2022 | β |
| Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study. | Hebert A et al. | β | 2022 | β |
| Ts66Yah, a mouse model of Down syndrome with improved construct and face validity. | Duchon A et al. | β | 2022 | β |
| Two Novel Variants of <i>WDR26</i> in Chinese Patients with Intellectual Disability. | Hu J 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 |
| Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Rodrigues EDS et al. | β | 2022 | β |
| Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. | Sobering AK et al. | β | 2022 | β |
| Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study. | Alhendi ASN et al. | β | 2022 | β |
| Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease. | Ming C et al. | β | 2022 | β |
| Whole genomic approach in mutation discovery of infantile spasms patients. | Lee S et al. | β | 2022 | β |
| X-Chromosome Inactivation and Related Diseases. | Sun Z et al. | β | 2022 | β |
| Yield of array-CGH analysis in Tunisian children with autism spectrum disorder. | Chehbani F et al. | β | 2022 | β |
| ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. | McGlacken-Byrne SM et al. | β | 2022 | β |
| 19p13.3 Deletion With Polyotia: A Case Report and Literature Review. | Silvera Redondo C et al. | β | 2021 | β |
| 8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects. | Ben Ayed I et al. | β | 2021 | β |
| Absence of RNA-binding protein FXR2P prevents prolonged phase of kainate-induced seizures. | Lo AC et al. | β | 2021 | β |
| Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease. | Annear DJ et al. | β | 2021 | β |
| A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. | Ehrhart F et al. | β | 2021 | β |
| A convergent molecular network underlying autism and congenital heart disease. | Rosenthal SB 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 |
| A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. | White SM et al. | β | 2021 | β |
| A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. | Kohl S et al. | β | 2021 | β |
| ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | Alsharhan H et al. | β | 2021 | β |
| Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Dyment DA et al. | β | 2021 | β |
| Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank. | Yap CX et al. | β | 2021 | β |
| A Novel Computational Framework to Predict Disease-Related Copy Number Variations by Integrating Multiple Data Sources. | Yuan L et al. | β | 2021 | β |
| A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation. | Peter B 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 De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review. | Han JY et al. | β | 2021 | β |
| A study of normal copy number variations in Israeli population. | Maya I et al. | β | 2021 | β |
| A trivalent nucleosome interaction by PHIP/BRWD2 is disrupted in neurodevelopmental disorders and cancer. | Morgan MAJ et al. | β | 2021 | β |
| Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review. | Arghir A et al. | β | 2021 | β |
| Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology. | Simone M et al. | β | 2021 | β |
| AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs. | Fan C et al. | β | 2021 | β |
| Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays. | Krishnan V et al. | β | 2021 | β |
| Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. | Cappuccio G et al. | β | 2021 | β |
| Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? | Maia N et al. | β | 2021 | β |
| Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel <i>de novo</i> Mosaic <i>SHANK1</i> Variant. | Paprocka J et al. | β | 2021 | β |
| Chromosome 2q14.3 microdeletion encompassing <i>CNTNAP5</i> gene in a patient carrying a complex chromosomal rearrangement. | Lengyel A et al. | β | 2021 | β |
| Clan genomics: From OMIM phenotypic traits to genes and biology. | Lupski JR | β | 2021 | β |
| CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations. | Royer-Bertrand B et al. | β | 2021 | β |
| CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. | Requena F et al. | β | 2021 | β |
| Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. | Jensen M et al. | β | 2021 | β |
| Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders. | Beaumont RN et al. | β | 2021 | β |
| Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. | Lavrichenko K et al. | β | 2021 | β |
| Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. | Balasubramanian M et al. | β | 2021 | β |
| Computational Methods for Prediction of Human Protein-Phenotype Associations: A Review. | Liu L et al. | β | 2021 | β |
| Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report. | Del Gobbo GF et al. | β | 2021 | β |
| Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma. | van Engelen N et al. | β | 2021 | β |
| Constitutional de novo deletion CNV encompassing <i>REST</i> predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN). | Hyder Z et al. | β | 2021 | β |
| Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. | Verbitsky M et al. | β | 2021 | β |
| Copy Number Variation Identification on 3,800 Alzheimer's Disease Whole Genome Sequencing Data from the Alzheimer's Disease Sequencing Project. | Lee WP 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 |
| CRL4<sup>AMBRA1</sup> is a master regulator of D-type cyclins. | Simoneschi D et al. | β | 2021 | β |
| Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies. | SchrΓΆter J et al. | β | 2021 | β |
| Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. | Di Resta C et al. | β | 2021 | β |
| Current updates and future perspectives in the evaluation of azoospermia: A systematic review. | Punjani N et al. | β | 2021 | β |
| Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. | Boer CG et al. | β | 2021 | β |
| Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks. | DΓaz-Santiago E et al. | β | 2021 | β |
| Deep semi-supervised learning ensemble framework for classifying co-mentions of human proteins and phenotypes. | Pourreza Shahri M et al. | β | 2021 | β |
| DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning | Althagafi A et al. | β | 2021 | β |
| Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome. | Lengyel A et al. | β | 2021 | β |
| Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. | Ushiki A et al. | β | 2021 | β |
| Deletion of <i>ERF</i> and <i>CIC</i> causes abnormal skull morphology and global developmental delay. | Singh R et al. | β | 2021 | β |
| Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing. | Wang Y et al. | β | 2021 | β |
| Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). | Zhao S et al. | β | 2021 | β |
| Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. | Palmer EE et al. | β | 2021 | β |
| Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay. | Vasilyev SA et al. | β | 2021 | β |
| Dissection of contiguous gene effects for deletions around ERF on chromosome 19. | Calpena E et al. | β | 2021 | β |
| DPP9: Comprehensive In Silico Analyses of Loss of Function Gene Variants and Associated Gene Expression Signatures in Human Hepatocellular Carcinoma. | Huang JC et al. | β | 2021 | β |
| Dual molecular diagnoses in a neurometabolic specialty clinic. | Hannah-Shmouni F et al. | β | 2021 | β |
| ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy. | Hyder Z et al. | β | 2021 | β |
| Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review. | Mezinska S et al. | β | 2021 | β |
| Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer. | Rojano E et al. | β | 2021 | β |
| Evaluating variants classified as pathogenic in ClinVar in the DDD Study. | Wright CF et al. | β | 2021 | β |
| Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit. | Liu J et al. | β | 2021 | β |
| Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. | Jacobs EZ et al. | β | 2021 | β |
| Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency. | Durmaz CD et al. | β | 2021 | β |
| Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity. | Kyrousi C et al. | β | 2021 | β |
| Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing. | Lansdon LA et al. | β | 2021 | β |
| Familial Psychosis Associated With a Missense Mutation at <i>MACF1</i> Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the <i>CNTN6</i> and <i>CDH13</i> Genes. | Pol-Fuster J et al. | β | 2021 | β |
| Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families. | Al-Sarraj Y et al. | β | 2021 | β |
| Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus. | Frazier AE et al. | β | 2021 | β |
| Folate Deficiency Triggers the Abnormal Segregation of a Region With Large Cluster of CG-Rich Trinucleotide Repeats on Human Chromosome 2. | Garribba L et al. | β | 2021 | β |
| GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations. | Genovesi ML et al. | β | 2021 | β |
| Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. | Di Sera T et al. | β | 2021 | β |
| Genetic Testing in CYLD Cutaneous Syndrome: An Update. | Nagy N et al. | β | 2021 | β |
| Genome sequencing identifies three molecular diagnoses including a mosaic variant in the <i>COL2A1</i> gene in an individual with Pol III-related leukodystrophy and Feingold syndrome. | Muirhead KJ et al. | β | 2021 | β |
| Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population. | Wang Z et al. | β | 2021 | β |
| Genome-wide copy number variations in a large cohort of bantu African children. | Yilmaz F et al. | β | 2021 | β |
| Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). | Schierbaum LM et al. | β | 2021 | β |
| Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical <i>NF1</i> Microdeletions. | BΓΌki G et al. | β | 2021 | β |
| Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use. | Bettegowda C et al. | β | 2021 | β |
| Germline Structural Variations in Cancer Predisposition Genes. | PΓ³cza T et al. | β | 2021 | β |
| Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. | Chowdhury F et al. | β | 2021 | β |
| Haploinsufficiency of SF3B2 causes craniofacial microsomia. | Timberlake AT et al. | β | 2021 | β |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. | Chopra M et al. | β | 2021 | β |
| Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. | Ravenscroft TA et al. | β | 2021 | β |
| Heterozygous variants in SPTBN1 cause intellectual disability and autism. | Rosenfeld JA et al. | β | 2021 | β |
| Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. | Dingemans AJM et al. | β | 2021 | β |
| Human intermediate progenitor diversity during cortical development. | Pebworth MP et al. | β | 2021 | β |
| Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration. | Au KS et al. | β | 2021 | β |
| <i>AHDC1</i> missense mutations in Xia-Gibbs syndrome. | Khayat MM et al. | β | 2021 | β |
| Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. | Powell L et al. | β | 2021 | β |
| Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders. | Kokkonen H et al. | β | 2021 | β |
| Identification of New miRNA-mRNA Networks in the Development of Non-syndromic Cleft Lip With or Without Cleft Palate. | Fu C et al. | β | 2021 | β |
| Importance of determining variations in the number of copies in newborns with autosomal aneuploidies | Abarca H et al. | β | 2021 | β |
| Improving diagnostics of rare genetic diseases with NGS approaches. | VinkΕ‘el M et al. | β | 2021 | β |
| Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study. | Zhai Y et al. | β | 2021 | β |
| Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay. | Hao D et al. | β | 2021 | β |
| Intellectual disability genomics: current state, pitfalls and future challenges. | Maia N et al. | β | 2021 | β |
| Interstitial 20p13 microdeletion including <i>PRNP</i> and adjacent genes in a fetus with congenital abnormalities-First case report. | Onur P et al. | β | 2021 | β |
| Interstitial duplication of 20q11.22q13.11: A case report and review of literature. | Goetzinger L et al. | β | 2021 | β |
| KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. | Zhang Y et al. | β | 2021 | β |
| Large mosaic copy number variations confer autism risk. | Sherman MA et al. | β | 2021 | β |
| Long-read technologies identify a hidden inverted duplication in a family with choroideremia. | Fadaie Z et al. | β | 2021 | β |
| MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes. | Sobczyk MK et al. | β | 2021 | β |
| Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature. | Marchina E et al. | β | 2021 | β |
| Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches. | SchΓΆneberg T et al. | β | 2021 | β |
| Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. | den Hoed J et al. | β | 2021 | β |
| NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. | McTiernan N et al. | β | 2021 | β |
| nanotatoR: a tool for enhanced annotation of genomic structural variants. | Bhattacharya S et al. | β | 2021 | β |
| Neuroimaging Findings in Patients with <i>EBF3</i> Mutations: Report of Two Cases. | JimΓ©nez de la PeΓ±a M et al. | β | 2021 | β |
| New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. | Aguilera C et al. | β | 2021 | β |
| Next-generation sequencing and the evolution of data sharing. | de Macena Sobreira NL et al. | β | 2021 | β |
| Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. | Wright CF et al. | β | 2021 | β |
| Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine. | Lange M et al. | β | 2021 | β |
| Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome. | Acharya T et al. | β | 2021 | β |
| Operative list of genes associated with autism and neurodevelopmental disorders based on database review. | Leblond CS et al. | β | 2021 | β |
| Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors. | Sabatella M et al. | β | 2021 | β |
| Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model. | Schuy J et al. | β | 2021 | β |
| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. | Cousin MA et al. | β | 2021 | β |
| Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. | Blakes AJM et al. | β | 2021 | β |
| PhenCards: a data resource linking human phenotype information to biomedical knowledge. | Havrilla JM et al. | β | 2021 | β |
| Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. | Morley TJ et al. | β | 2021 | β |
| Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants. | Saarentaus EC et al. | β | 2021 | β |
| Prenatal characterization of a novel inverted <i>SMAD2</i> duplication by mate pair sequencing in a fetus with dextrocardia. | Zepeda-Mendoza CJ et al. | β | 2021 | β |
| Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders. | Sandal P et al. | β | 2021 | β |
| Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. | Pirozzi F et al. | β | 2021 | β |
| PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids. | Jourdon A et al. | β | 2021 | β |
| Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature. | Bosfield K et al. | β | 2021 | β |
| QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. | FΓΆhrenbach M et al. | β | 2021 | β |
| Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. | Qiao L et al. | β | 2021 | β |
| Regulation of the NMDA receptor by its cytoplasmic domains: (How) is the tail wagging the dog? | Ishchenko Y et al. | β | 2021 | β |
| Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing. | Ripen AM et al. | β | 2021 | β |
| Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies. | Alten B et al. | β | 2021 | β |
| Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. | Rees E et al. | β | 2021 | β |
| SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. | Lin YC et al. | β | 2021 | β |
| SOD1-related ALS with anticipation in a large family from Martinique. | Giguet-Valard AG et al. | β | 2021 | β |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. | Radio FC et al. | β | 2021 | β |
| Stochastic gene expression and chromosome interactions in protecting the human active X from silencing by <i>XIST</i>. | Migeon BR | β | 2021 | β |
| Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay. | Piergiorge RM et al. | β | 2021 | β |
| Subtype-dependent regulation of GΞ²Ξ³ signalling. | Tennakoon M et al. | β | 2021 | β |
| Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders. | Copeland H et al. | β | 2021 | β |
| Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations. | Jabato FM et al. | β | 2021 | β |
| Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region. | Zodanu GKE et al. | β | 2021 | β |
| The autism-associated protein CHD8 is required for cerebellar development and motor function. | Kawamura A et al. | β | 2021 | β |
| The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain. | Pol-Fuster J et al. | β | 2021 | β |
| The C-terminal domains of the NMDA receptor: How intrinsically disordered tails affect signalling, plasticity and disease. | Warnet XL et al. | β | 2021 | β |
| The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. | Wagner AH et al. | β | 2021 | β |
| The Human Phenotype Ontology in 2021. | KΓΆhler S et al. | β | 2021 | β |
| The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders. | Brand BA et al. | β | 2021 | β |
| The LOVD3 platform: efficient genome-wide sharing of genetic variants. | Fokkema IFAC et al. | β | 2021 | β |
| The neurodevelopmental spectrum of synaptic vesicle cycling disorders. | John A et al. | β | 2021 | β |
| The role of USP7 in the Shoc2-ERK1/2 signaling axis and Noonan-like syndrome with loose anagen hair. | Wilson P et al. | β | 2021 | β |
| The UCSC Genome Browser database: 2021 update. | Navarro Gonzalez J et al. | β | 2021 | β |
| The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements. | Morales J et al. | β | 2021 | β |
| Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion. | Faurschou S et al. | β | 2021 | β |
| Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. | Murdock DR et al. | β | 2021 | β |
| Transgenic modeling of Ndr2 gene amplification reveals disturbance of hippocampus circuitry and function. | Madencioglu DA et al. | β | 2021 | β |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. | Rots D et al. | β | 2021 | β |
| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders. | May HJ et al. | β | 2021 | β |
| Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders. | Wyatt BH et al. | β | 2021 | β |
| Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. | Correa ARE et al. | β | 2021 | β |
| Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review. | Han JY et al. | β | 2021 | β |
| Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. | Fadaie Z et al. | β | 2021 | β |
| Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group. | Hol JA et al. | β | 2021 | β |
| X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy. | Massey CA et al. | β | 2021 | β |
| 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. | Niclass T et al. | β | 2020 | β |
| A brief history of human disease genetics. | Claussnitzer M et al. | β | 2020 | β |
| A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability. | MaldΕΎienΔ Ε½ et al. | β | 2020 | β |
| A decision tree to improve identification of pathogenic mutations in clinical practice. | do Nascimento PM et al. | β | 2020 | β |
| A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat. | Grosenbaugh DK et al. | β | 2020 | β |
| A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. | Ngo KJ et al. | β | 2020 | β |
| A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions. | Coste de Bagneaux P et al. | β | 2020 | β |
| A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. | Aagaard Nolting L et al. | β | 2020 | β |
| An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. | Pravata VM et al. | β | 2020 | β |
| A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review. | Almuzzaini B et al. | β | 2020 | β |
| A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. | Muthusamy B 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 |
| A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. | Lezirovitz K et al. | β | 2020 | β |
| ARHGAP10, which encodes Rho GTPase-activating protein 10, is a novel gene for schizophrenia risk. | Sekiguchi M et al. | β | 2020 | β |
| A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. | Drivas TG et al. | β | 2020 | β |
| Assembly of the threespine stickleback Y chromosome reveals convergent signatures of sex chromosome evolution. | Peichel CL et al. | β | 2020 | β |
| Association Study of Genetic Variants in Autophagy Pathway and Risk of Non-syndromic Cleft Lip With or Without Cleft Palate. | Lou S et al. | β | 2020 | β |
| Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. | Lam Z et al. | β | 2020 | β |
| BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. | Barish S et al. | β | 2020 | β |
| BioHackathon 2015: Semantics of data for life sciences and reproducible research. | Vos RA et al. | β | 2020 | β |
| Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. | Brunklaus A et al. | β | 2020 | β |
| Brain-Enriched Coding and Long Non-coding RNA Genes Are Overrepresented in Recurrent Neurodevelopmental Disorder CNVs. | Alinejad-Rokny H et al. | β | 2020 | β |
| Cardioinformatics: the nexus of bioinformatics and precision cardiology. | Khomtchouk BB et al. | β | 2020 | β |
| Case report: Novel phenotype in central 22q11.2 deletion syndrome. | Dideum P et al. | β | 2020 | β |
| Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies. | Seaby EG et al. | β | 2020 | β |
| Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions. | Navas-PΓ©rez E et al. | β | 2020 | β |
| Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury. | Osei-Owusu IA et al. | β | 2020 | β |
| CHD2-related epilepsy: novel mutations and new phenotypes. | Chen J et al. | β | 2020 | β |
| Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery. | Vece TJ et al. | β | 2020 | β |
| Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. | Fagerberg CR et al. | β | 2020 | β |
| Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report. | Poisson A et al. | β | 2020 | β |
| Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics. | Montazerinezhad S et al. | β | 2020 | β |
| ClassifyCNV: a tool for clinical annotation of copy-number variants. | Gurbich TA et al. | β | 2020 | β |
| Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature. | Lengyel A et al. | β | 2020 | β |
| Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND). | Vera G et al. | β | 2020 | β |
| Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. | Labonne JDJ et al. | β | 2020 | β |
| Computational Methods and Software Tools for Functional Analysis of miRNA Data. | Garcia-Moreno A et al. | β | 2020 | β |
| Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels. | Karbarz M | β | 2020 | β |
| Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. | Yehia L et al. | β | 2020 | β |
| Copy number variation (CNV) identification, interpretation, and database from Brazilian patients. | Godoy VCSM et al. | β | 2020 | β |
| DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier. | Kulmanov M et al. | β | 2020 | β |
| Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. | Ebrahimi-Fakhari D et al. | β | 2020 | β |
| De novo 2q36.3q37.1 deletion encompassing <i>TRIP12</i> and <i>NPPC</i> yields distinct phenotypes. | Kondo Y et al. | β | 2020 | β |
| De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. | Sjaarda CP et al. | β | 2020 | β |
| Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes. | van der Lee R et al. | β | 2020 | β |
| DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. | Rivera B et al. | β | 2020 | β |
| Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region. | Kirk B et al. | β | 2020 | β |
| Disruption of <i>CTNND2</i>, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia. | Adegbola A et al. | β | 2020 | β |
| Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. | Yusuff T et al. | β | 2020 | β |
| ECE2 regulates neurogenesis and neuronal migration during human cortical development. | Buchsbaum IY et al. | β | 2020 | β |
| Embracing human genetics: a primer for developmental biologists. | Leslie EJ | β | 2020 | β |
| Emerging Insights into the Distinctive Neuronal Methylome. | Clemens AW et al. | β | 2020 | β |
| Emerging role of NIK/IKK2-binding protein (NIBP)/trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases. | Bodnar B et al. | β | 2020 | β |
| Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. | Riedhammer KM et al. | β | 2020 | β |
| Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. | Sjaarda CP et al. | β | 2020 | β |
| Finding MEMO-Emerging Evidence for MEMO1's Function in Development and Disease. | Schotanus MD et al. | β | 2020 | β |
| Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. | Urreizti R et al. | β | 2020 | β |
| Genome-wide meta-analysis of brain volume identifies genomic loci and genes shared with intelligence. | Jansen PR et al. | β | 2020 | β |
| Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies. | Ornelas-Arana ML et al. | β | 2020 | β |
| Genotype-phenotype correlation at codon 1740 of SETD2. | Rabin R et al. | β | 2020 | β |
| Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly. | Aerden M et al. | β | 2020 | β |
| Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. | Schultz-Rogers L et al. | β | 2020 | β |
| Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion. | Pelle A et al. | β | 2020 | β |
| Harveian Oration 2019: Prediction and prevention in the genomic era. | Burn J | β | 2020 | β |
| High-mobility group nucleosomal binding domain 2 protects against microcephaly by maintaining global chromatin accessibility during corticogenesis. | Gao XL et al. | β | 2020 | β |
| Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif. | Perszyk RE et al. | β | 2020 | β |
| <i>De novo</i> mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication. | Azad AK et al. | β | 2020 | β |
| Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication. | Leung KCP et al. | β | 2020 | β |
| Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | Mortreux J et al. | β | 2020 | β |
| Impact of copy number variation on human neurocognitive deficits and congenital heart defects: A systematic review. | Savory K et al. | β | 2020 | β |
| Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report. | Maccarini S et al. | β | 2020 | β |
| Involvement of Kallikrein-Related Peptidases in Nervous System Disorders. | Mella C et al. | β | 2020 | β |
| KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. | Nemani T et al. | β | 2020 | β |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | Cif L et al. | β | 2020 | β |
| Loqusdb: added value of an observations database of local genomic variation. | Magnusson M et al. | β | 2020 | β |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. | Perenthaler E et al. | β | 2020 | β |
| Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. | Li L et al. | β | 2020 | β |
| Male infertility and genitourinary birth defects: there is more than meets the eye. | Punjani N et al. | β | 2020 | β |
| Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation. | Chunn LM et al. | β | 2020 | β |
| Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly. | Ciaccio C et al. | β | 2020 | β |
| MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. | Mak CCY 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 |
| Neuropsin in mental health. | Bukowski L et al. | β | 2020 | β |
| New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis. | Kolokotronis K et al. | β | 2020 | β |
| Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions. | Kucharik M et al. | β | 2020 | β |
| Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay. | Oliveira JS et al. | β | 2020 | β |
| Novel clinical and genetic insight into CXorf56-associated intellectual disability. | Rocha ME et al. | β | 2020 | β |
| Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. | Ludington EG et al. | β | 2020 | β |
| Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. | Reis LM et al. | β | 2020 | β |
| Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation. | Alcott CE et al. | β | 2020 | β |
| Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor Ξ² Signaling. | Johnson BV et al. | β | 2020 | β |
| Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. | Granadillo JL et al. | β | 2020 | β |
| Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450. | HlavΓ‘Δ V et al. | β | 2020 | β |
| Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases. | DΓaz-Santiago E et al. | β | 2020 | β |
| Phenotype Heterogeneity in 3q29 Microduplication Syndrome. | Streata I et al. | β | 2020 | β |
| Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study. | Jourdan-Voyen L et al. | β | 2020 | β |
| Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation. | Hussen DF et al. | β | 2020 | β |
| Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. | Castilla-Vallmanya L et al. | β | 2020 | β |
| Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder. | Kato H et al. | β | 2020 | β |
| Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. | Cordeddu V et al. | β | 2020 | β |
| Refining critical regions in 15q24 microdeletion syndrome pertaining to autism. | Liu Y et al. | β | 2020 | β |
| Reinterpretation of Chromosomal Microarrays with Detailed Medical History. | Farooqi MS et al. | β | 2020 | β |
| RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. | Palmer EE et al. | β | 2020 | β |
| Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees. | Woodbury-Smith M et al. | β | 2020 | β |
| Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion. | Santos-RebouΓ§as CB et al. | β | 2020 | β |
| Soft windowing application to improve analysis of high-throughput phenotyping data. | Haselimashhadi H et al. | β | 2020 | β |
| Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. | McCormick EM 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 |
| SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. | Schilit SLP et al. | β | 2020 | β |
| The phenomenal epigenome in neurodevelopmental disorders. | Ciptasari U et al. | β | 2020 | β |
| 'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension. | Swietlik EM et al. | β | 2020 | β |
| Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. | Seabra CM et al. | β | 2020 | β |
| Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. | Rees E et al. | β | 2020 | β |
| TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant. | Reyna-FabiΓ‘n ME et al. | β | 2020 | β |
| Two Compound Heterozygous Variants in <i>SNX14</i> Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20. | Maia N et al. | β | 2020 | β |
| Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants. | GonzΓ‘lez-Del Pozo M 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 |
| Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. | Huang Y et al. | β | 2020 | β |
| Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. | Fliedner A et al. | β | 2020 | β |
| Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. | Zawerton A et al. | β | 2020 | β |
| 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. | Kloth K et al. | β | 2019 | β |
| 16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay. | MaldΕΎienΔ Ε½ et al. | β | 2019 | β |
| 16q22.1 microdeletion and anticipatory guidance. | Abdullah S et al. | β | 2019 | β |
| A deep neural network approach to predicting clinical outcomes of neuroblastoma patients. | Tranchevent LC et al. | β | 2019 | β |
| A genomic atlas of systemic interindividual epigenetic variation in humans. | Gunasekara CJ et al. | β | 2019 | β |
| A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. | Alesi V et al. | β | 2019 | β |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. | Salpietro V et al. | β | 2019 | β |
| A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy. | RodrΓguez C et al. | β | 2019 | β |
| A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases. | Zolotareva O et al. | β | 2019 | β |
| Cohesin complex-associated holoprosencephaly. | Kruszka P et al. | β | 2019 | β |
| Contribution of retrotransposition to developmental disorders. | Gardner EJ et al. | β | 2019 | β |
| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. | Konrad EDH et al. | β | 2019 | β |
| Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature. | GΓΆkpΔ±nar Δ°li E et al. | β | 2019 | β |
| De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. | Snijders Blok L et al. | β | 2019 | β |
| De novo variants in CNOT3 cause a variable neurodevelopmental disorder. | Martin R et al. | β | 2019 | β |
| De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. | Kanca O et al. | β | 2019 | β |
| Distinct roles of <i>GRIN2A</i> and <i>GRIN2B</i> variants in neurological conditions. | Myers SJ et al. | β | 2019 | β |
| Does APC/C<sup>CDH1</sup> control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase-promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103. | Dohrn MF et al. | β | 2019 | β |
| Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. | Cameron JM 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 |
| 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 |
| Forged by <i>DXZ4</i>, <i>FIRRE</i>, and <i>ICCE</i>: How Tandem Repeats Shape the Active and Inactive X Chromosome. | Bansal P 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 |
| Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. | Codina-Sola M et al. | β | 2019 | β |
| Genomic imbalances defining novel intellectual disability associated loci. | Lopes F et al. | β | 2019 | β |
| Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. | Carbonell AU et al. | β | 2019 | β |
| How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study. | Tan RYY et al. | β | 2019 | β |
| HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology. | Shen F 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 |
| Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome. | Melo Gomes S et al. | β | 2019 | β |
| Interstitial duplication of 8q22.1-q23.1- A case report and review of the literature. | Leary S et al. | β | 2019 | β |
| Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. | Mohammadzadeh A et al. | β | 2019 | β |
| Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. | Lindholm CarlstrΓΆm E et al. | β | 2019 | β |
| Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. | Pillai NR 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 |
| Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. | Wang J et al. | β | 2019 | β |
| Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports <i>SH3PXD2A</i> as a Clefting Susceptibility Gene. | van Rooij IA et al. | β | 2019 | β |
| Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice. | Fahrner JA et al. | β | 2019 | β |
| Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases. | Chong HP et al. | β | 2019 | β |
| Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. | Middelkamp S et al. | β | 2019 | β |
| Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities. | Pendina AA et al. | β | 2019 | β |
| RNA sequencing of identical twins discordant for autism reveals blood-based signatures implicating immune and transcriptional dysregulation. | Saffari A et al. | β | 2019 | β |
| Severe head dysgenesis resulting from imbalance between anterior and posterior ontogenetic programs. | Grall E et al. | β | 2019 | β |
| Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. | Botton MR et al. | β | 2019 | β |
| TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. | Gudmundsson S 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 |
| Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. | Wang J et al. | β | 2019 | β |
| Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. | Nizon M et al. | β | 2019 | β |
| VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations. | Stephenson JD et al. | β | 2019 | β |
| Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. | Murdock DR et al. | β | 2019 | β |