Strong association of de novo copy number mutations with autism.
paper
Cited
Public
Unavailable
- Authors
- Sebat, Jonathan; Lakshmi, B; Malhotra, Dheeraj; Troge, Jennifer; Lese-Martin, Christa; Walsh, Tom; Yamrom, Boris; Yoon, Seungtai; Krasnitz, Alex; Kendall, Jude; Leotta, Anthony; Pai, Deepa; Zhang, Ray; Lee, Yoon-Ha; Hicks, James; Spence, Sarah J; Lee, Annette T; Puura, Kaija; LehtimΓ€ki, Terho; Ledbetter, David; Gregersen, Peter K; Bregman, Joel; Sutcliffe, James S; Jobanputra, Vaidehi; Chung, Wendy; Warburton, Dorothy; King, Mary-Claire; Skuse, David; Geschwind, Daniel H; Gilliam, T Conrad; Ye, Kenny; Wigler, Michael
- Year
- 2007
- Journal
- Science (New York, N.Y.)
- PMID
- 17363630
- DOI
- 10.1126/science.1138659
- PMCID
- PMC2993504
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Developmental convergence and divergence in human stem cell models of autism. | Gordon A et al. | β | 2026 | β |
| Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle. | Gao Y et al. | β | 2026 | β |
| Phased-assembly-driven pangenome graphs for structural variant genotyping and complex trait mapping in dairy cattle. | Yang L et al. | β | 2026 | β |
| Phenotypic Heterogeneity of 16p11.2 Microdeletion Syndrome: 5 Case Reports. | Costa SD et al. | β | 2026 | β |
| Progress and opportunity in developmental neurobiology and youth mental health. | Gordon JA et al. | β | 2026 | β |
| Rapid and repeated evolution of myosin copy number in threespine stickleback. | Yoxsimer AM et al. | β | 2026 | β |
| Replication stress increases de novo CNVs across the malaria parasite genome. | Brown N et al. | β | 2026 | β |
| Shared genetic architecture between autism spectrum disorder, loneliness, and social isolation reveals novel genetic loci. | Hope S et al. | β | 2026 | β |
| Using the linear references from the pangenome to discover missing autism variants. | Sui Y et al. | β | 2026 | β |
| Alkylglycerol monooxygenase represses prostanoid biosynthesis in a sex-dependent manner. | Rao Z et al. | β | 2025 | β |
| Alternative splicing analysis in a Spanish ASD (Autism Spectrum Disorders) cohort: in silico prediction and characterization. | Dominguez-Alonso S et al. | β | 2025 | β |
| An integrative scoring approach for prioritization of rare autism spectrum disorder candidate variants from whole exome sequencing data. | Shil A et al. | β | 2025 | β |
| Assessment of Brain Morphological Abnormalities and Neurodevelopmental Risk Copy Number Variants in Individuals from the UK Biobank. | Azidane S et al. | β | 2025 | β |
| Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns. | La Monica I et al. | β | 2025 | β |
| Benchmarking strategies for CNV calling from whole genome bisulfite data in humans. | Zhao S et al. | β | 2025 | β |
| Central role of regular firing neurons of centrolateral amygdala in affective behaviors. | GarcΓa A et al. | β | 2025 | β |
| Characterizing Rare DNA Copy-Number Variants in Pediatric Obsessive-Compulsive Disorder. | Abdallah SB et al. | β | 2025 | β |
| circ-Ttc3 alleviates LPS-induced neuronal injury via stabilizing RBFOX1 to inhibit inflammation and oxidative stress. | Zhang Y et al. | β | 2025 | β |
| Coalescing single-cell genomes and transcriptomes to decode breast cancer progression. | Wang K et al. | β | 2025 | β |
| Comparison of autism domains across thirty rare variant genotypes. | Ali NMH et al. | β | 2025 | β |
| Computational Tools for Studying Genome Structural Variation. | Chen X et al. | β | 2025 | β |
| Differential links in 16p11.2 deletion carriers reveal aberrant connections between large-scale networks. | Qureshi AY et al. | β | 2025 | β |
| Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant. | LemΓ©e MV et al. | β | 2025 | β |
| Diversity and consequences of structural variation in the human genome. | Collins RL et al. | β | 2025 | β |
| doc2a and doc2b contribute to locomotor and social behaviors by down-regulating npas4b in zebrafish. | Chi Y et al. | β | 2025 | β |
| Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder. | Garvin MR et al. | β | 2025 | β |
| Elucidating the interplay between gut microbiota and autism spectrum disorder. NewΒ insights and therapeutic perspectives. | Mavridou M et al. | β | 2025 | β |
| Exploring Copy Number Variants in a Cohort of Children Affected by ADHD: Clinical Investigation and Translational Insights. | Mirabella F et al. | β | 2025 | β |
| From variants to mechanisms: Neurogenomics in the post-GWAS era. | Margolis MP et al. | β | 2025 | β |
| Gamma-aminobutyric acid and glutamate system dysregulation in a small population of Egyptian children with autism spectrum disorder. | Meguid N et al. | β | 2025 | β |
| Genetic advances in neurodevelopmental disorders. | Gao S et al. | β | 2025 | β |
| Large-scale EM data reveals myelinated axonal changes and altered connectivity in the corpus callosum of an autism mouse model. | Zhao G et al. | β | 2025 | β |
| LMADCNV: A CNV Detection Method Based on Local Features and MAD for NGS Data. | Ge X et al. | β | 2025 | β |
| Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly. | Currey L et al. | β | 2025 | β |
| Molecular and Genetic Mechanisms in Autism Spectrum Disorder. | Pruitt A et al. | β | 2025 | β |
| Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders. | Assadourian AA et al. | β | 2025 | β |
| Rare Copy Number Variants Intersecting Parkinson's-associated Genes in a Cohort of children With Autism Spectrum Disorders. | Erbescu A et al. | β | 2025 | β |
| Rare germline structural variants increase risk for pediatric solid tumors. | Gillani R et al. | β | 2025 | β |
| Recent Developments in the Application of Artificial Intelligence and Machine Learning in Early Screening and Diagnosis of Autism. | Rajagopalan SS et al. | β | 2025 | β |
| Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic. | Fitzpatrick SE et al. | β | 2025 | β |
| Review of autism spectrum disorder databases for the identification of candidate genes. | MartΓnez-Minguet D et al. | β | 2025 | β |
| The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases. | Del Gobbo GF et al. | β | 2025 | β |
| The Role of mRNA Alternative Processing in Mammalian Neurodevelopment. | Liu X et al. | β | 2025 | β |
| Transgenerational Effects and Heritability of Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorder. | Frye RE et al. | β | 2025 | β |
| Untangling the Molecular Mechanisms Contributing to Autism Spectrum Disorder Using Stem Cells. | Mattingly Z et al. | β | 2025 | β |
| Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations. | Wang Z et al. | β | 2025 | β |
| Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants. | Iyer KR et al. | β | 2025 | β |
| Whole-genome sequencing analysis of Japanese autism spectrum disorder trios. | Furukawa S et al. | β | 2025 | β |
| A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD. | Chaves TF et al. | β | 2024 | β |
| A genomic mutational constraint map using variation in 76,156 human genomes. | Chen S et al. | β | 2024 | β |
| An evolutionary perspective on complex neuropsychiatric disease. | McClellan JM et al. | β | 2024 | β |
| Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing. | Shiota Y et al. | β | 2024 | β |
| Association of Preconception or Antepartum Maternal Intimate Partner Violence with Autism Spectrum Disorder in 3-Year-Old Offspring: The Japan Environment and Children's Study. | Isogami H et al. | β | 2024 | β |
| Atopic Dermatitis and Autism Spectrum Disorders: Common Role of Environmental and Clinical Co-Factors in the Onset and Severity of Their Clinical Course. | Casella R et al. | β | 2024 | β |
| Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples. | Drago A et al. | β | 2024 | β |
| Characterization of Gene Regulatory Elements in Human Fetal Cortical Development: Enhancing Our Understanding of Neurodevelopmental Disorders and Evolution. | Guo Q et al. | β | 2024 | β |
| Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. | Laver TW et al. | β | 2024 | β |
| Circuit mechanism underlying fragmented sleep and memory deficits in 16p11.2 deletion mouse model of autism. | Choi A et al. | β | 2024 | β |
| Clinical characteristics of probands with obsessive-compulsive disorder from simplex and multiplex families. | Lima MO et al. | β | 2024 | β |
| Copy-number variants differ in frequency across genetic ancestry groups. | Schultz LM et al. | β | 2024 | β |
| Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs. | Auwerx C et al. | β | 2024 | β |
| Dissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders. | Kim J et al. | β | 2024 | β |
| EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development. | Juan CX et al. | β | 2024 | β |
| Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping. | De Clercq G et al. | β | 2024 | β |
| Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families. | Yasin M et al. | β | 2024 | β |
| Genome sequencing in the prenatal diagnosis of structural malformations in the fetus. | Chau MHK et al. | β | 2024 | β |
| Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle. | Benfica LF et al. | β | 2024 | β |
| Germline cell de novo mutations and potential effects of inflammation on germline cell genome stability. | Ma JY et al. | β | 2024 | β |
| Key Synaptic Pathology in Autism Spectrum Disorder: Genetic Mechanisms and Recent Advances. | Zhang Y et al. | β | 2024 | β |
| Molecular diagnosis of 405 individuals with autism spectrum disorder. | Miyake N et al. | β | 2024 | β |
| OTSUCNV: an adaptive segmentation and OTSU-based anomaly classification method for CNV detection using NGS data. | Xie K et al. | β | 2024 | β |
| Prenatal environmental risk factors for autism spectrum disorder and their potential mechanisms. | Love C et al. | β | 2024 | β |
| Progress towards understanding risk factor mechanisms in the development of autism spectrum disorders. | Bryers A et al. | β | 2024 | β |
| Rare copy-number variants as modulators of common disease susceptibility. | Auwerx C 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 |
| Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension. | Wang X et al. | β | 2024 | β |
| Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome. | Sefik E 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 gut metabolite indole-3-propionic acid activates ERK1 to restore social function and hippocampal inhibitory synaptic transmission in a 16p11.2 microdeletion mouse model. | Jiang J et al. | β | 2024 | β |
| The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism. | NΓ³brega IS et al. | β | 2024 | β |
| The pleiotropic spectrum of proximal 16p11.2 CNVs. | Auwerx C et al. | β | 2024 | β |
| Towards understanding sex differences in autism spectrum disorders. | Leow KQ et al. | β | 2024 | β |
| Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes. | Leone R et al. | β | 2024 | β |
| Whole-genome sequencing identifies novel genes for autism in Chinese trios. | Chang S et al. | β | 2024 | β |
| Advances in neurexin studies and the emerging role of neurexin-2 in autism spectrum disorder. | Khoja S et al. | β | 2023 | β |
| A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome. | Fiksinski AM et al. | β | 2023 | β |
| Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome. | Papuc SM et al. | β | 2023 | β |
| Bidirectional genetic overlap between autism spectrum disorder and cognitive traits. | Hope S et al. | β | 2023 | β |
| Candidate biomarkers in psychiatric disorders: state of the field. | Abi-Dargham A et al. | β | 2023 | β |
| CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder. | Annunziata S et al. | β | 2023 | β |
| Challenges in screening for <i>de novo</i> noncoding variants contributing to genetically complex phenotypes. | Castro CP et al. | β | 2023 | β |
| Chromosomal inversion polymorphisms shape human brain morphology. | Wang H et al. | β | 2023 | β |
| Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis. | Jang WE et al. | β | 2023 | β |
| Cohort-guided insights into gene-environment interactions in autism spectrum disorders. | Lipkin WI et al. | β | 2023 | β |
| Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. | Brownstein CA et al. | β | 2023 | β |
| Correlation of mutated gene and signalling pathways in ASD. | Apte M et al. | β | 2023 | β |
| Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study. | Hickman AR et al. | β | 2023 | β |
| Diversity and Classification of Genetic Variations in Autism Spectrum Disorder. | Kereszturi Γ | β | 2023 | β |
| Dysregulation of the Wnt/Ξ²-catenin signaling pathway via Rnf146 upregulation in a VPA-induced mouse model of autism spectrum disorder. | Park G et al. | β | 2023 | β |
| Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests. | Zhang Y et al. | β | 2023 | β |
| Genetics of autism spectrum disorders and future direction. | Yasuda Y et al. | β | 2023 | β |
| Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population. | Humphries EM et al. | β | 2023 | β |
| Genomic strategies to untangle the etiology of autism: A primer. | Vashisth S et al. | β | 2023 | β |
| Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism. | Cohenour TL et al. | β | 2023 | β |
| Histone Variants and Their Chaperones: An Emerging Epigenetic Mechanism in Neurodevelopment and Neurodevelopmental Disorders. | Johal KS 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 |
| Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank. | Mollon J et al. | β | 2023 | β |
| Implications of Cell Adhesion Molecules in Autism Spectrum Disorder Pathogenesis. | Sindi IA | β | 2023 | β |
| Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects. | Xin C et al. | β | 2023 | β |
| Modeling Autism Spectrum Disorders with Induced Pluripotent Stem Cell-Derived Brain Organoids. | Santos JLS et al. | β | 2023 | β |
| Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder. | Gandhi T et al. | β | 2023 | β |
| New and emerging approaches to treat psychiatric disorders. | Scangos KW et al. | β | 2023 | β |
| Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population. | Qiu S et al. | β | 2023 | β |
| oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids. | Dawes P et al. | β | 2023 | β |
| Opportunities and limitations for studying neuropsychiatric disorders using patient-derived induced pluripotent stem cells. | Hong Y et al. | β | 2023 | β |
| Polygenic architecture of rare coding variation across 394,783 exomes. | Weiner DJ et al. | β | 2023 | β |
| Population history modulates the fitness effects of Copy Number Variation in the Roma. | Antinucci M et al. | β | 2023 | β |
| Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. | Glessner JT et al. | β | 2023 | β |
| Removal of a partial genomic duplication restores synaptic transmission and behavior in the MyosinVA mutant mouse Flailer. | Bustos FJ et al. | β | 2023 | β |
| Sharing parental genomes by siblings concordant or discordant for autism. | Wroten M et al. | β | 2023 | β |
| SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. | Fasham J et al. | β | 2023 | β |
| Sleep disturbances in autism spectrum disorder: Animal models, neural mechanisms, and therapeutics. | Maurer JJ et al. | β | 2023 | β |
| Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder. | Kainer D et al. | β | 2023 | β |
| Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments. | Alibutud R et al. | β | 2023 | β |
| Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor. | Eichwald T et al. | β | 2023 | β |
| The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations. | Genovese A et al. | β | 2023 | β |
| The contributions of rare inherited and polygenic risk to ASD in multiplex families. | Cirnigliaro M et al. | β | 2023 | β |
| The genetics of autism spectrum disorder in an East African familial cohort. | Tuncay IO et al. | β | 2023 | β |
| Therapeutic strategies for autism: targeting three levels of the central dogma of molecular biology. | Hong D et al. | β | 2023 | β |
| The Role of Genetics in Preterm Birth. | Mead EC et al. | β | 2023 | β |
| To RNA-binding and beyond: Emerging facets of the role of Rbfox proteins in development and disease. | Mukherjee A et al. | β | 2023 | β |
| Transposon insertion profiling by sequencing (TIPseq) identifies novel LINE-1 insertions in human sperm. | Berteli TS et al. | β | 2023 | β |
| UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies. | Roy B et al. | β | 2023 | β |
| What happened to parents' views of school success for autistic children during the COVID-19 pandemic? | Cheng SL et al. | β | 2023 | β |
| Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment. | Okay K et al. | β | 2023 | β |
| 16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis. | Tomasello DL 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 6.3Β Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review. | Chen G et al. | β | 2022 | β |
| A family study implicates GBE1 in the etiology of autism spectrum disorder. | Fanjul-FernΓ‘ndez M et al. | β | 2022 | β |
| A general framework for identifying oligogenic combinations of rare variants in complex disorders. | Pounraja VK et al. | β | 2022 | β |
| A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. | Antaki D et al. | β | 2022 | β |
| A Polynesian-specific copy number variant encompassing the MICA gene associates with gout. | Wang K et al. | β | 2022 | β |
| A shortest path-based approach for copy number variation detection from next-generation sequencing data. | Liu G et al. | β | 2022 | β |
| Associations between accelerated parental biologic age, autism spectrum disorder, social traits, and developmental and cognitive outcomes in their children. | Song AY et al. | β | 2022 | β |
| Autism: A model of neurodevelopmental diversity informed by genomics. | Chawner SJRA et al. | β | 2022 | β |
| Autism-Like Behavioral Phenotypes in Mice Treated with Systemic N-Methyl-D-Aspartate. | Adil KJ et al. | β | 2022 | β |
| Chemical Modulators for Targeting Autism Spectrum Disorders: From Bench to Clinic. | Lim S et al. | β | 2022 | β |
| Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank. | Birnbaum R et al. | β | 2022 | β |
| Clinical Implications of Chromosome 16 Copy Number Variation. | Atli EI et al. | β | 2022 | β |
| Computational Approaches for Understanding Sequence Variation Effects on the 3D Genome Architecture. | Avdeyev P et al. | β | 2022 | β |
| Contribution of copy number variations to the risk of severe eating disorders. | Kushima I et al. | β | 2022 | β |
| CRISPR-mediated activation of autism gene <i>Itgb3</i> restores cortical network excitability via mGluR5 signaling. | Jaudon F et al. | β | 2022 | β |
| Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder. | Kushima I et al. | β | 2022 | β |
| Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing. | Zhou Y et al. | β | 2022 | β |
| Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands. | Pugsley K et al. | β | 2022 | β |
| Examining the effect of chronic intranasal oxytocin administration on the neuroanatomy and behavior of three autism-related mouse models. | Lindenmaier Z et al. | β | 2022 | β |
| From DNA human sequence to the chromatin higher order organisation and its biological meaning: Using biomolecular interaction networks to understand the influence of structural variation on spatial genome organisation and its functional effect. | ChiliΕski M et al. | β | 2022 | β |
| Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders. | Papale LA et al. | β | 2022 | β |
| Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. | Willsey HR et al. | β | 2022 | β |
| Identification of Copy Number Alterations from Next-Generation Sequencing Data. | Nabavi S et al. | β | 2022 | β |
| Influences of rare copy-number variation on human complex traits. | Hujoel MLA et al. | β | 2022 | β |
| Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain. | Vialle RA et al. | β | 2022 | β |
| <i>Prkn</i> knockout mice show autistic-like behaviors and aberrant synapse formation. | Huo Y et al. | β | 2022 | β |
| LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. | Lybaek H et al. | β | 2022 | β |
| Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes. | Rhine CL et al. | β | 2022 | β |
| Meta-Analysis of SNPs Determining Litter Traits in Pigs. | Sell-Kubiak E et al. | β | 2022 | β |
| Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates. | DiCarlo GE et al. | β | 2022 | β |
| Noninvasive Electrophysiology: Emerging Prospects in Aquatic Neurotoxicity Testing. | Tomasello DL et al. | β | 2022 | β |
| Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. | Lim ET et al. | β | 2022 | β |
| Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes. | Ebler J et al. | β | 2022 | β |
| Phosphorylation-dependent positive feedback on the oxytocin receptor through the kinase PKD1 contributes to long-term social memory. | Wang F et al. | β | 2022 | β |
| Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models. | Jiang Y et al. | β | 2022 | β |
| Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder. | Lee IH et al. | β | 2022 | β |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. | Fu JM et al. | β | 2022 | β |
| Rare variants and the oligogenic architecture of autism. | Wang T et al. | β | 2022 | β |
| Rbfox1 expression in amacrine cells is restricted to GABAergic and VGlut3 glycinergic cells. | Gu L et al. | β | 2022 | β |
| RNA and neuronal function: the importance of post-transcriptional regulation. | Bhat VD et al. | β | 2022 | β |
| Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies. | Du X et al. | β | 2022 | β |
| SavvyCNV: Genome-wide CNV calling from off-targetΒ reads. | Laver TW et al. | β | 2022 | β |
| Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts. | Xie P et al. | β | 2022 | β |
| Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. | Weiner DJ et al. | β | 2022 | β |
| Structural variations in cancer and the 3D genome. | Dubois F et al. | β | 2022 | β |
| Synthesis of genetic association studies on autism spectrum disorders using a genetic model-free approach. | Mpoulimari I et al. | β | 2022 | β |
| The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders. | Liaci C 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 Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and <i>NRXN1</i> Deletions. | Cooke J et al. | β | 2022 | β |
| Thyroid hormone elicits intergenerational epigenetic effects on adult social behavior and fetal brain expression of autism susceptibility genes. | Martinez ME et al. | β | 2022 | β |
| Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models. | Tai DJC et al. | β | 2022 | β |
| Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research. | Sakai Y et al. | β | 2022 | β |
| Visual Function and Survival of Injured Retinal Ganglion Cells in Aged Rbfox1 Knockout Animals. | Gu L et al. | β | 2022 | β |
| Yield of array-CGH analysis in Tunisian children with autism spectrum disorder. | Chehbani F et al. | β | 2022 | β |
| 16p11.2 deletion syndrome. | Chung WK et al. | β | 2021 | β |
| 3D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders. | Su C et al. | β | 2021 | β |
| A Cluster-Based Approach for the Discovery of Copy Number Variations From Next-Generation Sequencing Data. | Liu G et al. | β | 2021 | β |
| A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability. | Shiota Y et al. | β | 2021 | β |
| A convergent molecular network underlying autism and congenital heart disease. | Rosenthal SB et al. | β | 2021 | β |
| A copy number variant at the HPDA-D12 locus confers compact plant architecture in cotton. | Ji G et al. | β | 2021 | β |
| A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within <i>Saccharomyces cerevisiae</i>. | Jiang P et al. | β | 2021 | β |
| An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons. | Cast TP et al. | β | 2021 | β |
| A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder. | Graziano C et al. | β | 2021 | β |
| A Unifying Theory for Autism: The Pathogenetic Triad as a Theoretical Framework. | Sarovic D | β | 2021 | β |
| Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms. | Manoli DS et al. | β | 2021 | β |
| Autism spectrum disorder in architecture perspective: a review of the literature and bibliometric assessment of research indexed in Web of Science. | Moniem Ali R et al. | β | 2021 | β |
| A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders. | DΓaz-Caneja CM et al. | β | 2021 | β |
| Biological implications of genetic variations in autism spectrum disorders from genomics studies. | Zhang Y et al. | β | 2021 | β |
| Childhood trauma, life-time self-harm, and suicidal behaviour and ideation are associated with polygenic scores for autism. | Warrier V et al. | β | 2021 | β |
| Chromosome 22 Deletions and Suicidal Behavior in Schizophrenia. | Bani-Fatemi A et al. | β | 2021 | β |
| CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer. | Chattopadhyay A et al. | β | 2021 | β |
| CNV-MEANN: A Neural Network and Mind Evolutionary Algorithm-Based Detection of Copy Number Variations From Next-Generation Sequencing Data. | Huang T et al. | β | 2021 | β |
| CNV-P: a machine-learning framework for predicting high confident copy number variations. | Wang T et al. | β | 2021 | β |
| Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. | Padhi EM et al. | β | 2021 | β |
| Communication and social interaction in the cannabinoid-type 1 receptor null mouse: Implications for autism spectrum disorder. | Fyke W et al. | β | 2021 | β |
| Comparative Analysis for the Performance of Long-Read-Based Structural Variation Detection Pipelines in Tandem Repeat Regions. | Guo M 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 |
| Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. | Abdelwahed M et al. | β | 2021 | β |
| Copy number variations in Japanese children with autism spectrum disorder. | Sakamoto Y et al. | β | 2021 | β |
| Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. | Urresti J et al. | β | 2021 | β |
| Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived <i>NRXN1</i>-mutant neurons. | Pak C et al. | β | 2021 | β |
| Crystal structure of the GTP-binding protein-like domain of AGAP1. | Cheng N et al. | β | 2021 | β |
| De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. | Belyeu JR et al. | β | 2021 | β |
| Developmental disabilities across the world: A scientometric review from 1936 to 2020. | Carollo A et al. | β | 2021 | β |
| Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel. | Tal-Ben Ishay R et al. | β | 2021 | β |
| Discovery of genomic variation across a generation. | Trost B et al. | β | 2021 | β |
| Drug development for Autism Spectrum Disorder (ASD): Progress, challenges, and future directions. | McCracken JT et al. | β | 2021 | β |
| Dysregulation of Multiple Signaling Neurodevelopmental Pathways during Embryogenesis: A Possible Cause of Autism Spectrum Disorder. | Upadhyay J et al. | β | 2021 | β |
| Elucidation of molecular pathogenesis and drug development for psychiatric disorders from rare disease-susceptibility variants. | Kimura H et al. | β | 2021 | β |
| Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity. | Neri de Souza Reis V 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 |
| Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders | Papale LA et al. | β | 2021 | β |
| Genetic Advances in Autism. | Thapar A et al. | β | 2021 | β |
| Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. | Choi L et al. | β | 2021 | β |
| Genetic contributions to autism spectrum disorder. | Havdahl A et al. | β | 2021 | β |
| Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk. | Marrus N et al. | β | 2021 | β |
| [Genetic risk factors and their influence on neural development in autism spectrum disorders]. | Freitag CM et al. | β | 2021 | β |
| High resolution copy number inference in cancer using short-molecule nanopore sequencing. | Baslan T et al. | β | 2021 | β |
| <i>FMR1</i> and Autism, an Intriguing Connection Revisited. | Fyke W et al. | β | 2021 | β |
| Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. | Lee CL et al. | β | 2021 | β |
| Investigation the Relationship of Autism Spectrum Disorder and <i>FOXP2, GRIN2B, KATNAL2, GABRA4</i> Genes. | YalΓ§intepe S et al. | β | 2021 | β |
| Large mosaic copy number variations confer autism risk. | Sherman MA et al. | β | 2021 | β |
| Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders. | Searles Quick VB et al. | β | 2021 | β |
| Long-Lasting Changes in Glial Cells Isolated From Rats Subjected to the Valproic Acid Model of Autism Spectrum Disorder. | Traetta ME et al. | β | 2021 | β |
| Loss of Rbfox1 Does Not Affect Survival of Retinal Ganglion Cells Injured by Optic Nerve Crush. | Gu L et al. | β | 2021 | β |
| Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated. | Yamauchi M | β | 2021 | β |
| Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets. | Pintacuda G et al. | β | 2021 | β |
| Molecular Pathways within Autism Spectrum Disorder Endophenotypes. | Briuglia S et al. | β | 2021 | β |
| No Mendelian Genes in Psychiatry? | Pardo JV | β | 2021 | β |
| Origin of Sex-Biased Mental Disorders: An Evolutionary Perspective. | Singh RS et al. | β | 2021 | β |
| Origins and Long-Term Patterns of Copy-Number Variation in Rhesus Macaques. | Thomas GWC et al. | β | 2021 | β |
| Postnatal therapeutic approaches in genetic neurodevelopmental disorders. | Levy G et al. | β | 2021 | β |
| Rates of contributory de novo mutation in high and low-risk autism families. | Yoon S et al. | β | 2021 | β |
| Recent ultra-rare inherited variants implicate new autism candidate risk genes. | Wilfert AB et al. | β | 2021 | β |
| Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders. | Arnett AB et al. | β | 2021 | β |
| Regulation of nonsense-mediated mRNA decay in neural development and disease. | Lee PJ et al. | β | 2021 | β |
| Relationships among gastrointestinal symptoms, sleep problems, challenging behaviour, comorbid psychopathology and autism spectrum disorder symptoms in children and adolescents with 15q duplication syndrome. | Leader G et al. | β | 2021 | β |
| Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models. | Jiang Y et al. | β | 2021 | β |
| RNA-binding proteins in neurological development and disease. | Prashad S et al. | β | 2021 | β |
| Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders. | Mosley TJ et al. | β | 2021 | β |
| Sex-Specific Stress-Related Behavioral Phenotypes and Central Amygdala Dysfunction in a Mouse Model of 16p11.2 Microdeletion. | Giovanniello J et al. | β | 2021 | β |
| Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder. | Enriquez KD et al. | β | 2021 | β |
| Somatic copy number variants in neuropsychiatric disorders. | Maury EA et al. | β | 2021 | β |
| Somatic Mosaicism and Autism Spectrum Disorder. | D'Gama AM | β | 2021 | β |
| Structural and Lipidomic Alterations of Striatal Myelin in 16p11.2 Deletion Mouse Model of Autism Spectrum Disorder. | Ju J et al. | β | 2021 | β |
| Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes. | Scott AJ et al. | β | 2021 | β |
| Synergistic inhibition of histone modifiers produces therapeutic effects in adult Shank3-deficient mice. | Zhang F et al. | β | 2021 | β |
| The applicability of fingernail lead and cadmium levels as subchronic exposure biomarkers for preschool children. | Oliveira AS et al. | β | 2021 | β |
| The Brainstem-Informed Autism Framework: Early Life Neurobehavioral Markers. | Burstein O et al. | β | 2021 | β |
| The Emerging Physiological Role of AGMO 10 Years after Its Gene Identification. | Sailer S et al. | β | 2021 | β |
| The impact of oxytocin on neurite outgrowth and synaptic proteins in Magel2-deficient mice. | Reichova A et al. | β | 2021 | β |
| The Role of Copy Number Variations and <i>FHIT</i> Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder. | Γnsel Bolat G et al. | β | 2021 | β |
| Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment. | Eyring KW et al. | β | 2021 | β |
| Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. | Li J et al. | β | 2021 | β |
| Understanding the Functional Expression of Na+-Coupled SLC4 Transporters in the Renal and Nervous Systems: A Review. | Du L et al. | β | 2021 | β |
| When the genome bluffs: a tandem duplication event during generation of a novel Agmo knockout mouse model fools routine genotyping. | Sailer S et al. | β | 2021 | β |
| 16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development. | Roth JG et al. | β | 2020 | β |
| A Bibliometric Insight of Genetic Factors in ASD: Emerging Trends and New Developments. | Wang K et al. | β | 2020 | β |
| Abnormal Levels of Metal Micronutrients and Autism Spectrum Disorder: A Perspective Review. | Behl S et al. | β | 2020 | β |
| A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15. | Casamassa A et al. | β | 2020 | β |
| Alternative splicing at neuroligin site A regulates glycan interaction and synaptogenic activity. | Oku S et al. | β | 2020 | β |
| A Multiplex Human Pluripotent Stem Cell Platform Defines Molecular and Functional Subclasses of Autism-Related Genes. | Cederquist GY et al. | β | 2020 | β |
| Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control. | Maurer GW et al. | β | 2020 | β |
| A Practical Guide for Structural Variation Detection in the Human Genome. | Yang L | β | 2020 | β |
| A robust benchmark for detection of germline large deletions and insertions. | Zook JM et al. | β | 2020 | β |
| Assessment of Genetic Drift in Large Pharmacogenomic Studies. | Quevedo R et al. | β | 2020 | β |
| A structural variation reference for medical and population genetics. | Collins RL et al. | β | 2020 | β |
| Autism-associated synaptic mutations impact the gut-brain axis in mice. | Lee CYQ et al. | β | 2020 | β |
| Autism spectrum disorder. | Lord C et al. | β | 2020 | β |
| Autism spectrum disorder genomics: The progress and potential of genomic technologies. | NΓ GhrΓ‘laigh F et al. | β | 2020 | β |
| Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder. | Gandawijaya J et al. | β | 2020 | β |
| Change in serotonergic modulation contributes to the synaptic imbalance of neuronal circuit at the prefrontal cortex in the 15q11-13 duplication mouse model of autism. | Saitow F et al. | β | 2020 | β |
| Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD). | Genovese A et al. | β | 2020 | β |
| CNV Radar: an improved method for somatic copy number alteration characterization in oncology. | Soong D et al. | β | 2020 | β |
| Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. | Matoba N et al. | β | 2020 | β |
| Concentration-dependent splicing is enabled by Rbfox motifs of intermediate affinity. | Begg BE et al. | β | 2020 | β |
| Control of cortical synapse development and plasticity by MET receptor tyrosine kinase, a genetic risk factor for autism. | Ma X et al. | β | 2020 | β |
| Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD. | Drakulic D et al. | β | 2020 | β |
| Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation. | Reilly J et al. | β | 2020 | β |
| De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population. | Kessler MD et al. | β | 2020 | β |
| Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1. | Pang H et al. | β | 2020 | β |
| Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy. | Javed S et al. | β | 2020 | β |
| ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. | Loi E et al. | β | 2020 | β |
| Emerging phenotyping strategies will advance our understanding of psychiatric genetics. | Sanchez-Roige S et al. | β | 2020 | β |
| Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study. | Calderoni S et al. | β | 2020 | β |
| Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders. | Sledziowska M et al. | β | 2020 | β |
| Exposure to the Heavy-Metal Lead Induces DNA Copy Number Alterations in Zebrafish Cells. | Lee J et al. | β | 2020 | β |
| Factors Associated With Seizure Onset in Children With Autism Spectrum Disorder. | Capal JK et al. | β | 2020 | β |
| Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. | Wang L et al. | β | 2020 | β |
| Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder. | Yoon SH et al. | β | 2020 | β |
| Genetic landscape of autism spectrum disorder in Vietnamese children. | Tran KT et al. | β | 2020 | β |
| Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways. | Hall A et al. | β | 2020 | β |
| Genomic Variation, Evolvability, and the Paradox of Mental Illness. | Gualtieri CT | β | 2020 | β |
| Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects. | Zhang F et al. | β | 2020 | β |
| Language characterization in 16p11.2 deletion and duplication syndromes. | Kim SH et al. | β | 2020 | β |
| Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. | Satterstrom FK et al. | β | 2020 | β |
| Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. | Wang T et al. | β | 2020 | β |
| Linking Autism Risk Genes to Disruption of Cortical Development. | Garcia-Forn M et al. | β | 2020 | β |
| Mapping and characterization of structural variation in 17,795 human genomes. | Abel HJ et al. | β | 2020 | β |
| MFCNV: A New Method to Detect Copy Number Variations From Next-Generation Sequencing Data. | Zhao H et al. | β | 2020 | β |
| miRNA regulation of social and anxiety-related behaviour. | Narayanan R et al. | β | 2020 | β |
| Neurodevelopmental disorders-the history and future of a diagnostic conceptβ©. | Morris-Rosendahl DJ et al. | β | 2020 | β |
| Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers. | Xie H et al. | β | 2020 | β |
| Neuroinflammatory Gene Expression Alterations in Anterior Cingulate Cortical White and Gray Matter of Males With Autism Spectrum Disorder. | Sciara AN et al. | β | 2020 | β |
| Paternal age is affected by genetic abnormalities, perinatal complications and mental health of the offspring. | Janeczko D et al. | β | 2020 | β |
| Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms. | Rao J et al. | β | 2020 | β |
| Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution. | Chu C et al. | β | 2020 | β |
| Plasmalogens, platelet-activating factor and beyond - Ether lipids in signaling and neurodegeneration. | Dorninger F et al. | β | 2020 | β |
| Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice. | Suliman-Lavie R et al. | β | 2020 | β |
| Potential role of genomic imprinted genes and brain developmental related genes in autism. | Li J et al. | β | 2020 | β |
| Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies. | SΓ‘nchez-Gaya V et al. | β | 2020 | β |
| RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior. | FernΓ ndez-Castillo N et al. | β | 2020 | β |
| Recent Advances in Understanding the Genetic Architecture of Autism. | Dias CM et al. | β | 2020 | β |
| Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature. | Upadhyai P et al. | β | 2020 | β |
| Recurrent Rare Copy Number Variants Increase Risk for Esotropia. | Whitman MC et al. | β | 2020 | β |
| Research Review: Outcomes of 24- to 36-month-old children with autism spectrum disorder vary by ascertainment strategy: a systematic review and meta-analysis. | Micheletti M et al. | β | 2020 | β |
| Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD). | Missig G et al. | β | 2020 | β |
| Specific Neuroligin3-Ξ±Neurexin1 signaling regulates GABAergic synaptic function in mouse hippocampus. | Uchigashima M et al. | β | 2020 | β |
| Structural variation in the sequencing era. | Ho SS et al. | β | 2020 | β |
| TCF20 dysfunction leads to cortical neurogenesis defects and autistic-like behaviors in mice. | Feng C et al. | β | 2020 | β |
| The abiding relevance of mouse models of rare mutations to psychiatric neuroscience and therapeutics. | Gogos JA et al. | β | 2020 | β |
| The Association Between Parental Age and Autism-Related Outcomes in Children at High Familial Risk for Autism. | Lyall K et al. | β | 2020 | β |
| The Evolution of Stem Cells, Disease Modeling, and Drug Discovery for Neurological Disorders. | Pernia C et al. | β | 2020 | β |
| The Genetic Control of Stoichiometry Underlying Autism. | Darnell RB | β | 2020 | β |
| The role of GABAergic neural circuits in the pathogenesis of autism spectrum disorder. | Di J et al. | β | 2020 | β |
| Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy. | Fan C et al. | β | 2020 | β |
| Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature. | Farrell M et al. | β | 2020 | β |
| What we can learn from a genetic rodent model about autism. | MΓΆhrle D et al. | β | 2020 | β |
| A comparative study of the genetic components of three subcategories of autism spectrum disorder. | Li J et al. | β | 2019 | β |
| A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster. | Hope KA et al. | β | 2019 | β |
| Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling. | Duncan AR et al. | β | 2019 | β |
| Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. | Schuch JB et al. | β | 2019 | β |
| Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies <i>CAPG</i> as a Functionally Relevant Candidate Gene. | Bacchelli E et al. | β | 2019 | β |
| A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. | Davis JM et al. | β | 2019 | β |
| Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function. | Casanova EL et al. | β | 2019 | β |
| Autism Spectrum Disorder Associated with Germline Heterozygous <i>PTEN</i> Mutations. | Frazier TW | β | 2019 | β |
| Autism spectrum disorder: insights into convergent mechanisms from transcriptomics. | Quesnel-ValliΓ¨res M et al. | β | 2019 | β |
| Chromatin organization modulates the origin of heritable structural variations in human genome. | Roychowdhury T et al. | β | 2019 | β |
| Cognitive and behavioral differences in toddlers with autism spectrum disorder from multiplex and simplex families. | Dissanayake C et al. | β | 2019 | β |
| Comprehensively benchmarking applications for detecting copy number variation. | Zhang L et al. | β | 2019 | β |
| Convergent Evidence That ZNF804A Is a Regulator of Pre-messenger RNA Processing and Gene Expression. | Chapman RM et al. | β | 2019 | β |
| Copy number variants in autism spectrum disorders. | Vicari S et al. | β | 2019 | β |
| Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. | Sullivan PF et al. | β | 2019 | β |
| Differences in Cognition and Behaviour in Multiplex and Simplex Autism: Does Prior Experience Raising a Child with Autism Matter? | Berends D et al. | β | 2019 | β |
| Differential expression of neurexin genes in the mouse brain. | Uchigashima M et al. | β | 2019 | β |
| Disrupted Social Hierarchy in Prenatally Valproate-Exposed Autistic-Like Rats. | PelsΕczi P et al. | β | 2019 | β |
| Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions. | Nussbacher JK et al. | β | 2019 | β |
| Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission. | Guo H et al. | β | 2019 | β |
| Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. | Chow J et al. | β | 2019 | β |
| Dynamical Electrical Complexity Is Reduced during Neuronal Differentiation in Autism Spectrum Disorder. | Amatya DN et al. | β | 2019 | β |
| Environmental and Genetic Factors in Autism Spectrum Disorders: Special Emphasis on Data from Arabian Studies. | Almandil NB et al. | β | 2019 | β |
| Essential genetic findings in neurodevelopmental disorders. | Cardoso AR et al. | β | 2019 | β |
| Ether Lipid Deficiency in Mice Produces a Complex Behavioral Phenotype Mimicking Aspects of Human Psychiatric Disorders. | Dorninger F et al. | β | 2019 | β |
| Expression, Localization, and Effect of High Salt Intake on Electroneutral Na<sup>+</sup>/HCO<sub>3</sub> <sup>-</sup> Cotransporter NBCn2 in Rat Small Intestine: Implication in Intestinal NaCl Absorption. | Wang JL et al. | β | 2019 | β |
| Functional and Optogenetic Approaches to Discovering Stable Subtype-Specific Circuit Mechanisms in Depression. | Grosenick L et al. | β | 2019 | β |
| Functional Genomics of Epilepsy and Associated Neurodevelopmental Disorders Using Simple Animal Models: From Genes, Molecules to Brain Networks. | Rosch R et al. | β | 2019 | β |
| Genetic Causes and Modifiers of Autism Spectrum Disorder. | Rylaarsdam L et al. | β | 2019 | β |
| Genetics and epigenetics of autism spectrum disorder-current evidence in the field. | WiΕniowiecka-Kowalnik B et al. | β | 2019 | β |
| Genetic Variation, Comparative Genomics, and the Diagnosis of Disease. | Eichler EE | β | 2019 | β |
| Genomic Copy Number Variations in the Autism Clinic-Work in Progress. | Velinov M | β | 2019 | β |
| Genomic updates in understanding PTSD. | Sharma S et al. | β | 2019 | β |
| Getting to the Cores of Autism. | Iakoucheva LM et al. | β | 2019 | β |
| GWAS of Behavioral Traits. | Mehta D et al. | β | 2019 | β |
| <i>De novo</i> Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. | Wang W et al. | β | 2019 | β |
| Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. | Ruzzo EK et al. | β | 2019 | β |
| Interactive effects between hemizygous 15q13.3 microdeletion and peripubertal stress on adult behavioral functions. | Giovanoli S et al. | β | 2019 | β |
| Long noncoding RNA C21orf121/bone morphogenetic protein 2/microRNA-140-5p gene network promotes directed differentiation of stem cells from human exfoliated deciduous teeth to neuronal cells. | Liu J et al. | β | 2019 | β |
| Maternal Antibody and ASD: Clinical Data and Animal Models. | Gata-Garcia A et al. | β | 2019 | β |
| MicroRNA profiling in adults with high-functioning autism spectrum disorder. | Nakata M et al. | β | 2019 | β |
| Mitochondria, Metabolism, and Redox Mechanisms in Psychiatric Disorders. | Kim Y et al. | β | 2019 | β |
| Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations. | Hiroi N et al. | β | 2019 | β |
| Neonatal amygdalae and hippocampi are influenced by genotype and prenatal environment, and reflected in the neonatal DNA methylome. | Ong ML et al. | β | 2019 | β |
| Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. | Coe BP et al. | β | 2019 | β |
| Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex. | Chronister WD et al. | β | 2019 | β |
| Next-Generation Sequencing in Autism Spectrum Disorder. | Sanders SJ | β | 2019 | β |
| Parental Age and Differential Estimates of Risk for Neuropsychiatric Disorders: Findings From the Danish Birth Cohort. | Janecka M et al. | β | 2019 | β |
| Patient-Derived Stem Cells, Another <i>in vitro</i> Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders? | Maussion G et al. | β | 2019 | β |
| Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature. | Fang HH et al. | β | 2019 | β |
| POGZ de novo missense variants in neuropsychiatric disorders. | Zhao W et al. | β | 2019 | β |
| Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. | D'Abate L et al. | β | 2019 | β |
| Prenatal Risk for ASD: Fetal Cortisol Exposure Predicts Child Autism-Spectrum Disorder Symptoms. | Ram S et al. | β | 2019 | β |
| Psychiatric disorders in children with 16p11.2 deletion and duplication. | Niarchou M et al. | β | 2019 | β |
| PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders. | Lin GN et al. | β | 2019 | β |
| Recent genetic and functional insights in autism spectrum disorder. | Nakanishi M et al. | β | 2019 | β |
| Rediscovering the value of families for psychiatric genetics research. | Glahn DC et al. | β | 2019 | β |
| Regulatory genes and pathways disrupted in autism spectrum disorders. | Ayhan F et al. | β | 2019 | β |
| SM-RCNV: a statistical method to detect recurrent copy number variations in sequenced samples. | Li Y et al. | β | 2019 | β |
| SMURF-seq: efficient copy number profiling on long-read sequencers. | Prabakar RK et al. | β | 2019 | β |
| Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder. | Smith A et al. | β | 2019 | β |
| Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. | Botton MR et al. | β | 2019 | β |
| SVIM: structural variant identification using mapped long reads. | Heller D et al. | β | 2019 | β |
| Temporal and Geographical Variability of Prevalence and Incidence of Autism Spectrum Disorder Diagnoses in Children in Catalonia, Spain. | PΓ©rez-Crespo L et al. | β | 2019 | β |
| The genetics of neuropsychiatric disorders. | Bray NJ et al. | β | 2019 | β |
| The Impact of Gene Dosage and Heterozygosity on The Diploid Pathobiont <i>Candida albicans</i>. | Liang SH et al. | β | 2019 | β |
| The modular organization of the cerebral cortex: Evolutionary significance and possible links to neurodevelopmental conditions. | Casanova MF et al. | β | 2019 | β |
| The role of Pax6 in brain development and its impact on pathogenesis of autism spectrum disorder. | Kikkawa T et al. | β | 2019 | β |
| The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress. | Arnett AB et al. | β | 2019 | β |
| The zebrafish subcortical social brain as a model for studying social behavior disorders. | Geng Y et al. | β | 2019 | β |
| The Ξ±5-Containing GABA<sub>A</sub> Receptors-a Brief Summary. | Mohamad FH et al. | β | 2019 | β |
| 16p11.2 microdeletion syndrome: a case report. | Dell'Edera D et al. | β | 2018 | β |
| Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid. | Mao Q et al. | β | 2018 | β |
| A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia. | Fu R et al. | β | 2018 | β |
| Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options. | Bergsma AJ et al. | β | 2018 | β |
| An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. | Chen S et al. | β | 2018 | β |
| A remark on copy number variation detection methods. | Li S et al. | β | 2018 | β |
| A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder. | Cataldo I et al. | β | 2018 | β |
| Association of copy number variation across the genome with neuropsychiatric traits in the general population. | Guyatt AL et al. | β | 2018 | β |
| Association of TSHR Gene Copy Number Variation with TSH Abnormalities. | Pang Y et al. | β | 2018 | β |
| Association study between copy number variation and beef fatty acid profile of Nellore cattle. | de Lemos MVA et al. | β | 2018 | β |
| Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children. | Wang J et al. | β | 2018 | β |
| Autism throughout genetics: Perusal of the implication of ion channels. | Daghsni M et al. | β | 2018 | β |
| Copy Number Variation of Immune-Related Genes and Their Association with Iodine in Adults with Autoimmune Thyroid Diseases. | Jin X et al. | β | 2018 | β |
| Damaging de novo mutations diminish motor skills in children on the autism spectrum. | Buja A et al. | β | 2018 | β |
| De novo vs. inherited copy number variations in multiple sclerosis susceptibility. | Tizaoui K | β | 2018 | β |
| Downregulation of splicing regulator RBFOX1 compromises visual depth perception. | Gu L et al. | β | 2018 | β |
| Elevated polygenic burden for autism is associated with differential DNA methylation at birth. | Hannon E et al. | β | 2018 | β |
| Gender Differences During Toddlerhood in Autism Spectrum Disorder: A Prospective Community-Based Longitudinal Follow-Up Study. | Lawson LP et al. | β | 2018 | β |
| Genetic basis of human congenital anomalies of the kidney and urinary tract. | Sanna-Cherchi S et al. | β | 2018 | β |
| Genetics Factors in Major Depression Disease. | Shadrina M et al. | β | 2018 | β |
| Genetics of autism spectrum disorder. | Ramaswami G et al. | β | 2018 | β |
| Genetic susceptibility in obsessive-compulsive disorder. | Fernandez TV et al. | β | 2018 | β |
| Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. | Soler J et al. | β | 2018 | β |
| Genomics of autism spectrum disorder: approach to therapy. | Ayhan F et al. | β | 2018 | β |
| Heritable genotype contrast mining reveals novel gene associations specific to autism subgroups. | Spencer M et al. | β | 2018 | β |
| <i>De novo</i> Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. | Alonso-Gonzalez A et al. | β | 2018 | β |
| Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing. | Jin ZB et al. | β | 2018 | β |
| Identifying structural variants using linked-read sequencing data. | Elyanow R et al. | β | 2018 | β |
| Imaging genetics in autism spectrum disorders: Linking genetics and brain imaging in the pursuit of the underlying neurobiological mechanisms. | Fakhoury M | β | 2018 | β |
| iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes. | Khan A et al. | β | 2018 | β |
| Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing. | Desai P et al. | β | 2018 | β |
| Increased glia density in the caudate nucleus in williams syndrome: Implications for frontostriatal dysfunction in autism. | Hanson KL et al. | β | 2018 | β |
| Increased Grik4 Gene Dosage Causes Imbalanced Circuit Output and Human Disease-Related Behaviors. | Arora V et al. | β | 2018 | β |
| Integrated analysis of SNP, CNV and gene expression data in genetic association studies. | Momtaz R et al. | β | 2018 | β |
| Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways. | Nguyen RL et al. | β | 2018 | β |
| LINE-1 retrotransposons in healthy and diseased human brain. | Suarez NA et al. | β | 2018 | β |
| Linking spatial gene expression patterns to sex-specific brain structural changes on a mouse model of 16p11.2 hemideletion. | Kumar VJ et al. | β | 2018 | β |
| Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder. | Sestan N et al. | β | 2018 | β |
| Modeling Inflammation in Autism Spectrum Disorders Using Stem Cells. | Freitas BC et al. | β | 2018 | β |
| Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders. | Yurov YB et al. | β | 2018 | β |
| Mouse models of SLC4-linked disorders of HCO<sub>3</sub><sup>-</sup>-transporter dysfunction. | Parker MD | β | 2018 | β |
| Neonatal Oxytocin Treatment Ameliorates Autistic-Like Behaviors and Oxytocin Deficiency in Valproic Acid-Induced Rat Model of Autism. | Dai YC et al. | β | 2018 | β |
| NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. | Fernandez-Marmiesse A et al. | β | 2018 | β |
| Pallidin is a novel interacting protein for cytohesin-2 and regulates the early endosomal pathway and dendritic formation in neurons. | Ito A et al. | β | 2018 | β |
| Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM et al. | β | 2018 | β |
| Perspective: DNA Copy Number Variations in Cardiovascular Diseases. | Vijay A et al. | β | 2018 | β |
| R-Baclofen Reverses Cognitive Deficits and Improves Social Interactions in Two Lines of 16p11.2 Deletion Mice. | Stoppel LJ et al. | β | 2018 | β |
| Rbfox1 Mediates Cell-type-Specific Splicing in Cortical Interneurons. | Wamsley B et al. | β | 2018 | β |
| Rbfox1 Regulates Synaptic Transmission through the Inhibitory Neuron-Specific vSNARE Vamp1. | Vuong CK et al. | β | 2018 | β |
| Rbfox Splicing Factors Promote Neuronal Maturation and Axon Initial Segment Assembly. | Jacko M et al. | β | 2018 | β |
| Regression in autism spectrum disorder: Reconciling findings from retrospective and prospective research. | Pearson N et al. | β | 2018 | β |
| Somatic mosaicism and neurodevelopmental disease. | D'Gama AM et al. | β | 2018 | β |
| Structural variation in the 3D genome. | Spielmann M et al. | β | 2018 | β |
| Systematic reconstruction of autism biology from massive genetic mutation profiles. | Luo W et al. | β | 2018 | β |
| The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. | Tebbenkamp ATN et al. | β | 2018 | β |
| The contribution of alternative splicing to genetic risk for psychiatric disorders. | Reble E et al. | β | 2018 | β |
| The emerging genetic landscape of cerebral palsy. | van Eyk CL et al. | β | 2018 | β |
| The role of genetics and genomics in clinical psychiatry. | Hoehe MR et al. | β | 2018 | β |
| UBE3A and Its Link With Autism. | Vatsa N et al. | β | 2018 | β |
| WaveDec: A Wavelet Approach to Identify Both Shared and Individual Patterns of Copy-Number Variations. | Cai H et al. | β | 2018 | β |
| Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis. | Zhou B et al. | β | 2018 | β |
| 22q12.3 microduplication overlapping the <i>LARGE</i> gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder. | Huang X et al. | β | 2017 | β |
| A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes. | Zhang C et al. | β | 2017 | β |
| A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report. | Ahram DF et al. | β | 2017 | β |
| Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1. | Sites ER et al. | β | 2017 | β |
| Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions. | Hensel C et al. | β | 2017 | β |
| An evaluation of copy number variation detection tools for cancer using whole exome sequencing data. | Zare F et al. | β | 2017 | β |
| Association of oligodendrocytes differentiation regulator gene DUSP15 with autism. | Tian Y et al. | β | 2017 | β |
| Associations between fetal testosterone and pro-social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary study. | OsΓ³rio AAC et al. | β | 2017 | β |
| Ataxin 2-binding protein 1 is a context-specific positive regulator of Notch signaling during neurogenesis in <i>Drosophila melanogaster</i>. | Shukla JP et al. | β | 2017 | β |
| Atrazine exposure elicits copy number alterations in the zebrafish genome. | Wirbisky SE et al. | β | 2017 | β |
| Autism genetics - an overview. | Yin J et al. | β | 2017 | β |
| Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype. | Ishii A et al. | β | 2017 | β |
| Bio-collections in autism research. | Reilly J et al. | β | 2017 | β |
| Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. | Beaudet AL | β | 2017 | β |
| Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome. | Jalbrzikowski M et al. | β | 2017 | β |
| Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies. | Rosenfeld JA et al. | β | 2017 | β |
| Clinical Features in Patients with Microdeletion at 6q14.1-q15. | Zhou Q et al. | β | 2017 | β |
| CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues. | Luo M et al. | β | 2017 | β |
| Cognitive genomics: Searching for the genetic roots of neuropsychological functioning. | Bearden CE et al. | β | 2017 | β |
| Congenital Heart Disease and Neurodevelopment: Clinical Manifestations, Genetics, Mechanisms, and Implications. | Nattel SN et al. | β | 2017 | β |
| Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. | Firouzabadi SG et al. | β | 2017 | β |
| Copy Number Variation Disorders. | Shaikh TH | β | 2017 | β |
| Copy-number variation of housekeeping gene rpl13a in rat strains selected for nervous system excitability. | Kalendar R et al. | β | 2017 | β |
| Copy Number Variations Detection: Unravelling the Problem in Tangible Aspects. | do Nascimento F et al. | β | 2017 | β |
| Copy Number Variations in Tilapia Genomes. | Li BJ et al. | β | 2017 | β |
| Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure. | Conceição IC et al. | β | 2017 | β |
| Detection Copy Number Variants from NGS with Sparse and Smooth Constraints. | Zhang Y et al. | β | 2017 | β |
| Developmental neurogenetics and multimodal neuroimaging of sex differences in autism. | Chen C et al. | β | 2017 | β |
| Developmental regulation of RNA processing by Rbfox proteins. | Conboy JG | β | 2017 | β |
| Dosage sensitivity is a major determinant of human copy number variant pathogenicity. | Rice AM et al. | β | 2017 | β |
| Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder? | Magdalon J et al. | β | 2017 | β |
| Enhancing the Informativeness and Replicability of Imaging Genomics Studies. | Carter CS et al. | β | 2017 | β |
| Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population. | Li F et al. | β | 2017 | β |
| Executive functioning and local-global visual processing: candidate endophenotypes for autism spectrum disorder? | Van Eylen L et al. | β | 2017 | β |
| Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. | Krupp DR et al. | β | 2017 | β |
| Facilitating Autism Research. | Fein D et al. | β | 2017 | β |
| Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. | Richard AE et al. | β | 2017 | β |
| From sperm to offspring: Assessing the heritable genetic consequences of paternal smoking and potential public health impacts. | Beal MA et al. | β | 2017 | β |
| Functional significance of rare neuroligin 1 variants found in autism. | Nakanishi M et al. | β | 2017 | β |
| Further evidence of the limited role of candidate genes in relation to infant-mother attachment outcomes. | Leerkes EM et al. | β | 2017 | β |
| GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia. | Khanzada NS et al. | β | 2017 | β |
| Genetic Approaches to Understanding Psychiatric Disease. | Michaelson JJ | β | 2017 | β |
| Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. | Capone VP et al. | β | 2017 | β |
| Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population. | Wu Z et al. | β | 2017 | β |
| Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. | Guo H et al. | β | 2017 | β |
| Genomic copy number variation analysis in multiple system atrophy. | Hama Y et al. | β | 2017 | β |
| Human induced pluripotent stem cells for modelling neurodevelopmental disorders. | Ardhanareeswaran K et al. | β | 2017 | β |
| Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism. | Angelakos CC et al. | β | 2017 | β |
| Increased Sensory Processing Atypicalities in Parents of Multiplex ASD Families Versus Typically Developing and Simplex ASD Families. | Donaldson CK et al. | β | 2017 | β |
| Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder. | Reis VN et al. | β | 2017 | β |
| Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. | McConnell MJ et al. | β | 2017 | β |
| Investigating the Evidence of Behavioral, Cognitive, and Psychiatric Endophenotypes in Autism: A Systematic Review. | Ruparelia K et al. | β | 2017 | β |
| MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at <i>Drosophila</i> Larval Neuromuscular Junctions. | Park SM et al. | β | 2017 | β |
| Measuring shared variants in cohorts of discordant siblings with applications to autism. | Ye K et al. | β | 2017 | β |
| Mice lacking GRIP1/2 show increased social interactions and enhanced phosphorylation at GluA2-S880. | Han M et al. | β | 2017 | β |
| MLPA analysis in a cohort of patients with autism. | Peixoto S et al. | β | 2017 | β |
| Neuronal-expressed microRNA-targeted pseudogenes compete with coding genes in the human brain. | Barbash S et al. | β | 2017 | β |
| Neuron-enriched RNA-binding Proteins Regulate Pancreatic Beta Cell Function and Survival. | Juan-Mateu J et al. | β | 2017 | β |
| Noise reduction in single time frame optical DNA maps. | Torche PC et al. | β | 2017 | β |
| Parent-reported patterns of loss and gain in communication in 1- to 2-year-old children are not unique to autism spectrum disorder. | Brignell A et al. | β | 2017 | β |
| Progress in Genetic Studies of Tourette's Syndrome. | Qi Y et al. | β | 2017 | β |
| Progress in unraveling the genetic etiology of rolandic epilepsy. | Xiong W et al. | β | 2017 | β |
| Psychiatric behaviors associated with cytoskeletal defects in radial neuronal migration. | Fukuda T et al. | β | 2017 | β |
| PTEN: Local and Global Modulation of Neuronal Function in Health and Disease. | Knafo S et al. | β | 2017 | β |
| Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. | Lim ET et al. | β | 2017 | β |
| Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. | Wilfert AB et al. | β | 2017 | β |
| Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity. | Tordjman S et al. | β | 2017 | β |
| Resources available for autism research in the big data era: a systematic review. | Al-Jawahiri R et al. | β | 2017 | β |
| RNA sequencing of transformed lymphoblastoid cells from siblings discordant for autism spectrum disorders reveals transcriptomic and functional alterations: Evidence for sex-specific effects. | Tylee DS et al. | β | 2017 | β |
| Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. | Robert C et al. | β | 2017 | β |
| Strength of functional signature correlates with effect size in autism. | Ballouz S et al. | β | 2017 | β |
| TAOK2 Kinase Mediates PSD95 Stability and Dendritic Spine Maturation through Septin7 Phosphorylation. | Yadav S et al. | β | 2017 | β |
| The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population. | Zare S et al. | β | 2017 | β |
| The joint effect of air pollution exposure and copy number variation on risk for autism. | Kim D et al. | β | 2017 | β |
| The Nedd4 binding protein 3 is required for anterior neural development in Xenopus laevis. | Kiem LM et al. | β | 2017 | β |
| The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability. | Chaste P et al. | β | 2017 | β |
| Untangling the most probable role for vitamin D<sub>3</sub> in autism. | Godar DE et al. | β | 2017 | β |
| Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population. | Vojinovic D et al. | β | 2017 | β |
| Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families. | Al-Mubarak B et al. | β | 2017 | β |
| Whole-genome resequencing of 292 pigeonpea accessions identifies genomic regions associated with domestication and agronomic traits. | Varshney RK et al. | β | 2017 | β |
| A common molecular signature in ASD gene expression: following Root 66 to autism. | Diaz-Beltran L et al. | β | 2016 | β |
| A Consensus Network of Gene Regulatory Factors in the Human Frontal Lobe. | Berto S et al. | β | 2016 | β |
| Advancing the understanding of autism disease mechanisms through genetics. | de la Torre-Ubieta L et al. | β | 2016 | β |
| A genome-wide association study of copy number variations with umbilical hernia in swine. | Long Y et al. | β | 2016 | β |
| Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause. | Ma Y et al. | β | 2016 | β |
| Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. | Ghasemi Firouzabadi S et al. | β | 2016 | β |
| An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. | Lima Lde A et al. | β | 2016 | β |
| Annual Research Review: Threats to the validity of child psychiatry and psychology. | Rutter M et al. | β | 2016 | β |
| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. | Biamino E et al. | β | 2016 | β |
| A novel copy number variants kernel association test with application to autism spectrum disorders studies. | Zhan X et al. | β | 2016 | β |
| A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing Data. | Duan J et al. | β | 2016 | β |
| Autism and chromosome abnormalities-A review. | Bergbaum A et al. | β | 2016 | β |
| Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. | Green Snyder L et al. | β | 2016 | β |
| Bibliometric profile of the global scientific research on autism spectrum disorders. | Sweileh WM et al. | β | 2016 | β |
| Brain connectivity in autism spectrum disorder. | Mohammad-Rezazadeh I et al. | β | 2016 | β |
| Brinp1(-/-) mice exhibit autism-like behaviour, altered memory, hyperactivity and increased parvalbumin-positive cortical interneuron density. | Berkowicz SR et al. | β | 2016 | β |
| Caution When Diagnosing Your Mouse With Schizophrenia: The Use and Misuse of Model Animals for Understanding Psychiatric Disorders. | Wong AH et al. | β | 2016 | β |
| Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. | Zhang X et al. | β | 2016 | β |
| Clinical detection of deletion structural variants in whole-genome sequences. | Noll AC et al. | β | 2016 | β |
| Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. | Ho KS et al. | β | 2016 | β |
| CNV analysis in the Lithuanian population. | Urnikyte A et al. | β | 2016 | β |
| Comprehensive molecular testing in patients with high functioning autism spectrum disorder. | Alvarez-Mora MI et al. | β | 2016 | β |
| Contrasting mechanisms of de novo copy number mutagenesis suggest the existence of different classes of environmental copy number mutagens. | Conover HN et al. | β | 2016 | β |
| Copy number variants calling for single cell sequencing data by multi-constrained optimization. | Xu B et al. | β | 2016 | β |
| Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders. | Jacob J | β | 2016 | β |
| Cross-Species Analysis of Gene Expression and Function in Prefrontal Cortex, Hippocampus and Striatum. | Chen W et al. | β | 2016 | β |
| Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes. | Lee JA et al. | β | 2016 | β |
| Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. | Siu WK et al. | β | 2016 | β |
| Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive. | Mishra S et al. | β | 2016 | β |
| Differential sensory fMRI signatures in autism and schizophrenia: Analysis of amplitude and trial-to-trial variability. | Haigh SM et al. | β | 2016 | β |
| Does the cognitive architecture of simplex and multiplex ASD families differ? | Oerlemans AM et al. | β | 2016 | β |
| Drosophila Homolog of Human KIF22 at the Autism-Linked 16p11.2 Loci Influences Synaptic Connectivity at Larval Neuromuscular Junctions. | Park SM et al. | β | 2016 | β |
| Dysregulation of mRNA Localization and Translation in Genetic Disease. | Wang ET et al. | β | 2016 | β |
| Emerging roles of NaβΊ/HβΊ exchangers in epilepsy and developmental brain disorders. | Zhao H et al. | β | 2016 | β |
| Erasure and reestablishment of random allelic expression imbalance after epigenetic reprogramming. | Jeffries AR et al. | β | 2016 | β |
| Evaluation of genetic variation among Brazilian soybean cultivars through genome resequencing. | Maldonado dos Santos JV et al. | β | 2016 | β |
| Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis. | Guan J et al. | β | 2016 | β |
| Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression. | Wiedenhoeft J et al. | β | 2016 | β |
| Frequency and Complexity of De Novo Structural Mutation in Autism. | Brandler WM et al. | β | 2016 | β |
| Genetic heterogeneity in autism: From single gene to a pathway perspective. | An JY et al. | β | 2016 | β |
| Genetic variants in RBFOX3 are associated with sleep latency. | Amin N et al. | β | 2016 | β |
| Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL et al. | β | 2016 | β |
| Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity. | Shrine N et al. | β | 2016 | β |
| Genome-wide characteristics of <i>de novo</i> mutations in autism. | Yuen RK et al. | β | 2016 | β |
| Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation. | Tsai CT et al. | β | 2016 | β |
| High mutational rates of large-scale duplication and deletion in Daphnia pulex. | Keith N et al. | β | 2016 | β |
| High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families. | AlAyadhi LY et al. | β | 2016 | β |
| Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. | DiStefano C et al. | β | 2016 | β |
| Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder. | Baldwin PR et al. | β | 2016 | β |
| Identifying Unique Versus Shared Pre- and Perinatal Risk Factors for ASD and ADHD Using a Simplex-Multiplex Stratification. | Oerlemans AM et al. | β | 2016 | β |
| Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. | Genovese G et al. | β | 2016 | β |
| Joint detection of copy number variations in parent-offspring trios. | Liu Y et al. | β | 2016 | β |
| Lessons learned from studying syndromic autism spectrum disorders. | Sztainberg Y et al. | β | 2016 | β |
| Maternal exposure to intimate partner abuse before birth is associated with autism spectrum disorder in offspring. | Roberts AL et al. | β | 2016 | β |
| MGP-HMM: Detecting genome-wide CNVs using an HMM for modeling mate pair insertion sizes and read counts. | Malekpour SA et al. | β | 2016 | β |
| MiR-980 Is a Memory Suppressor MicroRNA that Regulates the Autism-Susceptibility Gene A2bp1. | Guven-Ozkan T et al. | β | 2016 | β |
| miRNAs in NMDA receptor-dependent synaptic plasticity and psychiatric disorders. | Shen H et al. | β | 2016 | β |
| Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young. | Sutphin BS et al. | β | 2016 | β |
| Neocortical neurogenesis and the etiology of autism spectrum disorder. | Packer A | β | 2016 | β |
| Neuropsychiatric Features in Primary Mitochondrial Disease. | Marin SE et al. | β | 2016 | β |
| Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation. | Need AC et al. | β | 2016 | β |
| Optimization of Signal Decomposition Matched Filtering (SDMF) for Improved Detection of Copy-Number Variations. | Stamoulis C et al. | β | 2016 | β |
| Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer. | Conti SL et al. | β | 2016 | β |
| Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. | Fry AE et al. | β | 2016 | β |
| POGZ truncating alleles cause syndromic intellectual disability. | White J et al. | β | 2016 | β |
| Potential serum biomarkers from a metabolomics study of autism. | Wang H et al. | β | 2016 | β |
| Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma. | Shi J et al. | β | 2016 | β |
| Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM et al. | β | 2016 | β |
| Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism. | Filice F et al. | β | 2016 | β |
| Regulation of neuronal migration, an emerging topic in autism spectrum disorders. | Reiner O et al. | β | 2016 | β |
| Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation. | Carreira-Rosario A et al. | β | 2016 | β |
| Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations. | Gratten J et al. | β | 2016 | β |
| RNA mis-splicing in disease. | Scotti MM et al. | β | 2016 | β |
| RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Soueid J et al. | β | 2016 | β |
| Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies. | Gokoolparsadh A et al. | β | 2016 | β |
| Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females. | Alaerts K et al. | β | 2016 | β |
| Should psychiatry deal only with mental disorders without an identified medical aetiology? | Arango C et al. | β | 2016 | β |
| SMASH, a fragmentation and sequencing method for genomic copy number analysis. | Wang Z et al. | β | 2016 | β |
| Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions. | Derlig K et al. | β | 2016 | β |
| Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders? | Yan Z et al. | β | 2016 | β |
| The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. | Alrayes N et al. | β | 2016 | β |
| The Contribution of Mosaic Variants to Autism Spectrum Disorder. | Freed D et al. | β | 2016 | β |
| The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies. | Schuch JB et al. | β | 2016 | β |
| The emerging roles of MicroRNAs in autism spectrum disorders. | Fregeac J et al. | β | 2016 | β |
| The Endosome Localized Arf-GAP AGAP1 Modulates Dendritic Spine Morphology Downstream of the Neurodevelopmental Disorder Factor Dysbindin. | Arnold M et al. | β | 2016 | β |
| The ethics of complexity. Genetics and autism, a literature review. | Hens K et al. | β | 2016 | β |
| The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. | Ziats MN et al. | β | 2016 | β |
| The Human Model: Changing Focus on Autism Research. | Muotri AR | β | 2016 | β |
| The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C et al. | β | 2016 | β |
| The role of sex-differential biology in risk for autism spectrum disorder. | Werling DM | β | 2016 | β |
| The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders. | Sener EF et al. | β | 2016 | β |
| THE SCREENING AND RANKING ALGORITHM FOR CHANGE-POINTS DETECTION IN MULTIPLE SAMPLES. | Song C et al. | β | 2016 | β |
| The Shank3 Interaction Partner ProSAPiP1 Regulates Postsynaptic SPAR Levels and the Maturation of Dendritic Spines in Hippocampal Neurons. | Reim D et al. | β | 2016 | β |
| Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. | Gazzellone MJ et al. | β | 2016 | β |
| Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops. | Mullins C et al. | β | 2016 | β |
| VARPRISM: incorporating variant prioritization in tests of de novo mutation association. | Hu H et al. | β | 2016 | β |
| Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. | Giorgio E et al. | β | 2016 | β |
| 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. | Yang M et al. | β | 2015 | β |
| A Bayesian framework for de novo mutation calling in parents-offspring trios. | Wei Q et al. | β | 2015 | β |
| Action control processes in autism spectrum disorder--insights from a neurobiological and neuroanatomical perspective. | Chmielewski WX et al. | β | 2015 | β |
| A decade of structural variants: description, history and methods to detect structural variation. | EscaramΓs G et al. | β | 2015 | β |
| A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis. | Agha Z et al. | β | 2015 | β |
| Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. | Milekic MH et al. | β | 2015 | β |
| Allele-specific copy-number discovery from whole-genome and whole-exome sequencing. | Wang W et al. | β | 2015 | β |
| Analysis of cortical shape in children with simplex autism. | Dierker DL et al. | β | 2015 | β |
| Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms. | Abyzov A et al. | β | 2015 | β |
| An epigenetic basis for autism spectrum disorder risk and oral contraceptive use. | Strifert K | β | 2015 | β |
| Assessing the Power of Exome Chips. | Page CM et al. | β | 2015 | β |
| A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. | Kun-Rodrigues C et al. | β | 2015 | β |
| Autism genetics: Methodological issues and experimental design. | Sacco R et al. | β | 2015 | β |
| Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators. | Duffney LJ et al. | β | 2015 | β |
| Autism spectrum disorder model mice: Focus on copy number variation and epigenetics. | Nakai N et al. | β | 2015 | β |
| Autism spectrum disorders: from genes to neurobiology. | Willsey AJ et al. | β | 2015 | β |
| Brief Report: Phenotypic Differences and their Relationship to Paternal Age and Gender in Autism Spectrum Disorder. | Vierck E et al. | β | 2015 | β |
| Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. | Lumish HS et al. | β | 2015 | β |
| Broader Autism Phenotype in Siblings of Children with ASD--A Review. | Pisula E et al. | β | 2015 | β |
| Challenges in essential tremor genetics. | Clark LN et al. | β | 2015 | β |
| Characteristics of de novo structural changes in the human genome. | Kloosterman WP et al. | β | 2015 | β |
| Clinically relevant copy number variations detected in cerebral palsy. | Oskoui M et al. | β | 2015 | β |
| CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data. | Sinha R et al. | β | 2015 | β |
| Cognitive impairments are different in single-incidence and multi-incidence ADHD families. | Oerlemans AM et al. | β | 2015 | β |
| Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. | Brunner D et al. | β | 2015 | β |
| Convergence of advances in genomics, team science, and repositories as drivers of progress in psychiatric genomics. | Lehner T et al. | β | 2015 | β |
| Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. | Westland R et al. | β | 2015 | β |
| Copy number variation-based genome wide association study reveals additional variants contributing to meat quality in Swine. | Wang L et al. | β | 2015 | β |
| Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers. | Vishweswaraiah S et al. | β | 2015 | β |
| Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. | Li J et al. | β | 2015 | β |
| Copy number variations in the genome of the Qatari population. | Fakhro KA et al. | β | 2015 | β |
| DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data. | Zhang Y et al. | β | 2015 | β |
| DEFA gene variants associated with IgA nephropathy in a Chinese population. | Qi YY et al. | β | 2015 | β |
| Detection of copy number variation by SNP-allelotyping. | Parker B et al. | β | 2015 | β |
| Detection of Genomic Structural Variants from Next-Generation Sequencing Data. | Tattini L et al. | β | 2015 | β |
| Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. | Gamsiz ED et al. | β | 2015 | β |
| Downregulation of the endogenous opioid peptides in the dorsal striatum of human alcoholics. | Sarkisyan D et al. | β | 2015 | β |
| Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. | Taylor A et al. | β | 2015 | β |
| Early evolutionary history and genomic features of gene duplicates in the human genome. | Bu L et al. | β | 2015 | β |
| Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research. | Zwaigenbaum L et al. | β | 2015 | β |
| Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research. | Zwaigenbaum L et al. | β | 2015 | β |
| Epigenetic Regulation in Amyloid Precursor Protein with Genomic Rearrangements and the Lesch-Nyhan Syndrome. | Nguyen KV | β | 2015 | β |
| Epigenetics of autism-related impairment: copy number variation and maternal infection. | Mazina V et al. | β | 2015 | β |
| Extrachromosomal circular DNA is common in yeast. | MΓΈller HD et al. | β | 2015 | β |
| Familial epilepsy in Algeria: Clinical features and inheritance profiles. | Chentouf A et al. | β | 2015 | β |
| Family-Based Benchmarking of Copy Number Variation Detection Software. | Nutsua ME et al. | β | 2015 | β |
| First glimpses of the neurobiology of autism spectrum disorder. | Sanders SJ | β | 2015 | β |
| Focal Points, Endogenous Processes, and Exogenous Shocks in the Autism Epidemic. | Liu K et al. | β | 2015 | β |
| From de novo mutations to personalized therapeutic interventions in autism. | Brandler WM et al. | β | 2015 | β |
| Functional roles of alternative splicing factors in human disease. | Cieply B et al. | β | 2015 | β |
| Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis. | Opitz R et al. | β | 2015 | β |
| Gene hunting in autism spectrum disorder: on the path to precision medicine. | Geschwind DH et al. | β | 2015 | β |
| Genetic and genomic analyses as a basis for new diagnostic nosologies. | Gershon ES et al. | β | 2015 | β |
| Genetic determinants of depression: recent findings and future directions. | Dunn EC et al. | β | 2015 | β |
| Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders. | Kim YS et al. | β | 2015 | β |
| Genetics and genomics of autism spectrum disorder: embracing complexity. | De Rubeis S et al. | β | 2015 | β |
| Genetics and genomics of psychiatric disease. | Geschwind DH et al. | β | 2015 | β |
| Genetics in child and adolescent psychiatry: methodological advances and conceptual issues. | Hohmann S et al. | β | 2015 | β |
| Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications. | Yoo H | β | 2015 | β |
| Genome-wide analysis identifies a role for common copy number variants in specific language impairment. | Simpson NH et al. | β | 2015 | β |
| Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population. | Kuo PH et al. | β | 2015 | β |
| Genome-wide association study of copy number variations (CNVs) with opioid dependence. | Li D et al. | β | 2015 | β |
| Genome-wide copy number profiling using high-density SNP array in chickens. | Yi G et al. | β | 2015 | β |
| Genome-wide disruption of 5-hydroxymethylcytosine in a mouse model of autism. | Papale LA et al. | β | 2015 | β |
| Genome-Wide Mapping of Structural Variations Reveals a Copy Number Variant That Determines Reproductive Morphology in Cucumber. | Zhang Z et al. | β | 2015 | β |
| Genome-wide patterns of genetic variation among silkworms. | Zhang X et al. | β | 2015 | β |
| Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization. | Veerappa AM et al. | β | 2015 | β |
| Global spectrum of copy number variations reveals genome organizational plasticity and proposes new migration routes. | Veerappa AM et al. | β | 2015 | β |
| Haplotype phasing and inheritance of copy number variants in nuclear families. | Palta P et al. | β | 2015 | β |
| High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders. | Butler MG et al. | β | 2015 | β |
| Increased Dosage of High-Affinity Kainate Receptor Gene grik4 Alters Synaptic Transmission and Reproduces Autism Spectrum Disorders Features. | Aller MI et al. | β | 2015 | β |
| Increased female autosomal burden of rare copy number variants in human populations and in autism families. | Desachy G et al. | β | 2015 | β |
| Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. | Sanders SJ et al. | β | 2015 | β |
| Insights into the genetic foundations of human communication. | Graham SA et al. | β | 2015 | β |
| Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. | Hartmann C et al. | β | 2015 | β |
| Large multiallelic copy number variations in humans. | Handsaker RE et al. | β | 2015 | β |
| Memory efficient assembly of human genome. | Hormozdiari F et al. | β | 2015 | β |
| Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis. | Goldenthal MJ et al. | β | 2015 | β |
| Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. | Frazier TW et al. | β | 2015 | β |
| Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. | Kopp N et al. | β | 2015 | β |
| Multiple Break-Points Detection in Array CGH Data via the Cross-Entropy Method. | Priyadarshana WJ et al. | β | 2015 | β |
| Neurodevelopmental sequelae associated with gray and white matter changes and their cellular basis: A comparison between Autism Spectrum Disorder, ADHD and dyslexia. | Bennett MR et al. | β | 2015 | β |
| Neuroimaging endophenotypes in autism spectrum disorder. | Mahajan R et al. | β | 2015 | β |
| Organization of the human superior olivary complex in 15q duplication syndromes and autism spectrum disorders. | Lukose R et al. | β | 2015 | β |
| Oxytocin: parallel processing in the social brain? | DΓΆlen G | β | 2015 | β |
| Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. | Brand H et al. | β | 2015 | β |
| Parental Age and Autism Spectrum Disorders Among New York City Children 0-36 Months of Age. | Quinlan CA et al. | β | 2015 | β |
| PAV markers in Sorghum bicolour: genome pattern, affected genes and pathways, and genetic linkage map construction. | Shen X et al. | β | 2015 | β |
| Pediatric asthma and autism-genomic perspectives. | Oh S et al. | β | 2015 | β |
| Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. | Harony-Nicolas H et al. | β | 2015 | β |
| Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families. | Frazier TW et al. | β | 2015 | β |
| Read clouds uncover variation in complex regions of the human genome. | Bishara A et al. | β | 2015 | β |
| Recent advances in the genetics of autism spectrum disorder. | De Rubeis S et al. | β | 2015 | β |
| Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. | Werling DM et al. | β | 2015 | β |
| Replicated linear association between DUF1220 copy number and severity of social impairment in autism. | Davis JM et al. | β | 2015 | β |
| Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure. | Wei C et al. | β | 2015 | β |
| Rising interdisciplinary collaborations refine our understanding of autisms and give hope to more personalized solutions. | Duda M et al. | β | 2015 | β |
| RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish. | Frese KS et al. | β | 2015 | β |
| Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism. | Mottron L et al. | β | 2015 | β |
| SG-ADVISER CNV: copy-number variant annotation and interpretation. | Erikson GA et al. | β | 2015 | β |
| Shared Pathways Among Autism Candidate Genes Determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome. | Mahfouz A et al. | β | 2015 | β |
| Simplex and multiplex stratification in ASD and ADHD families: a promising approach for identifying overlapping and unique underpinnings of ASD and ADHD? | Oerlemans AM et al. | β | 2015 | β |
| SNPs Array Karyotyping in Non-Hodgkin Lymphoma. | Etebari M et al. | β | 2015 | β |
| Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. | Lin GN et al. | β | 2015 | β |
| Structure and Function of SLC4 Family [Formula: see text] Transporters. | Liu Y et al. | β | 2015 | β |
| Subcellular patterning: axonal domains with specialized structure and function. | Normand EA et al. | β | 2015 | β |
| Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants. | Griswold AJ et al. | β | 2015 | β |
| The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. | Cotney J et al. | β | 2015 | β |
| The clustering of functionally related genes contributes to CNV-mediated disease. | Andrews T et al. | β | 2015 | β |
| The complex genetics in autism spectrum disorders. | Hua R et al. | β | 2015 | β |
| The Danish 22q11 research initiative. | Schmock H et al. | β | 2015 | β |
| The emerging picture of autism spectrum disorder: genetics and pathology. | Chen JA et al. | β | 2015 | β |
| The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants. | Saffen D | β | 2015 | β |
| The genetics of neuropsychiatric diseases: looking in and beyond the exome. | Heinzen EL et al. | β | 2015 | β |
| The impact of human copy number variation on gene expression. | Gamazon ER et al. | β | 2015 | β |
| The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. | Kusenda M et al. | β | 2015 | β |
| The origins, determinants, and consequences of human mutations. | Shendure J et al. | β | 2015 | β |
| The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis. | LoParo D et al. | β | 2015 | β |
| The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function. | Pedrotti S et al. | β | 2015 | β |
| The variation game: Cracking complex genetic disorders with NGS and omics data. | Cui H et al. | β | 2015 | β |
| Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder. | Jalbrzikowski M et al. | β | 2015 | β |
| Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism. | Patel S et al. | β | 2015 | β |
| VEGAWES: variational segmentation on whole exome sequencing for copy number detection. | Anjum S et al. | β | 2015 | β |
| Whole-genome sequencing of quartet families with autism spectrum disorder. | Yuen RK et al. | β | 2015 | β |
| 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM et al. | β | 2014 | β |
| A blueprint for research on Shankopathies: a view from research on autism spectrum disorder. | Carbonetto S | β | 2014 | β |
| A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. | Ceroni F et al. | β | 2014 | β |
| A de novo convergence of autism genetics and molecular neuroscience. | Krumm N et al. | β | 2014 | β |
| A de novo genome assembly algorithm for repeats and nonrepeats. | Lian S et al. | β | 2014 | β |
| A dual comparative approach: integrating lines of evidence from human evolutionary neuroanatomy and neurodevelopmental disorders. | Hanson KL et al. | β | 2014 | β |
| Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. | Shen J et al. | β | 2014 | β |
| A genotype-first approach to defining the subtypes of a complex disease. | Stessman HA et al. | β | 2014 | β |
| Altered gut microbiota and activity in a murine model of autism spectrum disorders. | de Theije CG et al. | β | 2014 | β |
| An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder. | Cappi C et al. | β | 2014 | β |
| Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation. | Marrale M et al. | β | 2014 | β |
| Assessing the utility of intermediate phenotypes for genetic mapping of psychiatric disease. | Flint J et al. | β | 2014 | β |
| Association between copy number variation losses and alcohol dependence across African American and European American ethnic groups. | Ulloa AE et al. | β | 2014 | β |
| Association of TLR7 and TSHR copy number variation with Graves' disease and Graves' ophthalmopathy in Chinese population in Taiwan. | Liao WL et al. | β | 2014 | β |
| A twin study of heritable and shared environmental contributions to autism. | Frazier TW et al. | β | 2014 | β |
| A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. | Hu H et al. | β | 2014 | β |
| Autism in a recently arrived immigrant population. | Bolton S et al. | β | 2014 | β |
| Autism's cancer connection: the anti-proliferation hypothesis and why it may matter. | Ward CS | β | 2014 | β |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | β | 2014 | β |
| Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. | Martin J et al. | β | 2014 | β |
| Biological relevance of CNV calling methods using familial relatedness including monozygotic twins. | Castellani CA et al. | β | 2014 | β |
| Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy. | Caillet-Boudin ML et al. | β | 2014 | β |
| Cation-coupled bicarbonate transporters. | Aalkjaer C et al. | β | 2014 | β |
| Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans. | Pang X et al. | β | 2014 | β |
| Chromatin regulators, phenotypic robustness, and autism risk. | Suliman R et al. | β | 2014 | β |
| Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens. | Feng J et al. | β | 2014 | β |
| Common genetic variants on 1p13.2 associate with risk of autism. | Xia K et al. | β | 2014 | β |
| Control of neural circuit formation by leucine-rich repeat proteins. | de Wit J et al. | β | 2014 | β |
| Copy number variants and therapeutic response to antidepressant medication in major depressive disorder. | Tansey KE et al. | β | 2014 | β |
| Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. | Noor A et al. | β | 2014 | β |
| Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. | Connolly JJ et al. | β | 2014 | β |
| Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia. | Castellani CA et al. | β | 2014 | β |
| Copy-number variation in the pathogenesis of autism spectrum disorder. | Shishido E et al. | β | 2014 | β |
| Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees. | Fanciulli M et al. | β | 2014 | β |
| Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression. | Veerappa AM et al. | β | 2014 | β |
| Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. | Brand H et al. | β | 2014 | β |
| De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. | Dong S et al. | β | 2014 | β |
| De novo mutations discovered in 8 Mexican American families through whole genome sequencing. | Wang H et al. | β | 2014 | β |
| Developmental pathways to autism: a review of prospective studies of infants at risk. | Jones EJ et al. | β | 2014 | β |
| DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan. | Porteous DJ et al. | β | 2014 | β |
| Early head growth in infants at risk of autism: a baby siblings research consortium study. | Zwaigenbaum L et al. | β | 2014 | β |
| Etiology of autism spectrum disorder: a genomics perspective. | Connolly JJ et al. | β | 2014 | β |
| Etiology of Obesity Over the Life Span: Ecological and Genetic Highlights from Asian Countries. | Chong PN et al. | β | 2014 | β |
| Evaluation of copy number variation detection for a SNP array platform. | Zhang X et al. | β | 2014 | β |
| Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. | Toma C et al. | β | 2014 | β |
| Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. | Veerappa AM et al. | β | 2014 | β |
| GeneβΓβEnvironment interactions in autism spectrum disorders: role of epigenetic mechanisms. | Tordjman S et al. | β | 2014 | β |
| Genetic aspects of autism spectrum disorders: insights from animal models. | Banerjee S et al. | β | 2014 | β |
| Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond. | Grarup N et al. | β | 2014 | β |
| Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. | Yang R et al. | β | 2014 | β |
| Genomic and genetic aspects of autism spectrum disorder. | Liu X et al. | β | 2014 | β |
| Glutamatergic candidate genes in autism spectrum disorder: an overview. | Chiocchetti AG et al. | β | 2014 | β |
| HaplotypeCN: copy number haplotype inference with Hidden Markov Model and localized haplotype clustering. | Lin YJ et al. | β | 2014 | β |
| HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism. | Weyn-Vanhentenryck SM et al. | β | 2014 | β |
| Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. | Matsunami N et al. | β | 2014 | β |
| Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. | Egger G et al. | β | 2014 | β |
| Identification of structural variation in mouse genomes. | Keane TM et al. | β | 2014 | β |
| Identifying novel interventional strategies for psychiatric disorders: integrating genomics, 'enviromics' and gene-environment interactions in valid preclinical models. | McOmish CE et al. | β | 2014 | β |
| Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays. | Veerappa AM et al. | β | 2014 | β |
| Increasing our understanding of human cognition through the study of Fragile X Syndrome. | Cook D et al. | β | 2014 | β |
| Intracellular pH regulation by acid-base transporters in mammalian neurons. | Ruffin VA et al. | β | 2014 | β |
| Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. | Moreira DP et al. | β | 2014 | β |
| Is autism curable? | BΓΆlte S | β | 2014 | β |
| Large-scale genomics unveils the genetic architecture of psychiatric disorders. | Gratten J et al. | β | 2014 | β |
| Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model. | Mottron L et al. | β | 2014 | β |
| Low-Frequency Copy-Number Variants and General Cognitive Ability: No Evidence of Association. | Kirkpatrick RM et al. | β | 2014 | β |
| Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. | Leblond CS et al. | β | 2014 | β |
| Mind the gap: why many geneticists and psychological scientists have discrepant views about gene-environment interaction (GΓE) research. | Duncan LE et al. | β | 2014 | β |
| Most genetic risk for autism resides with common variation. | Gaugler T et al. | β | 2014 | β |
| Multiple conserved regulatory domains promote Fezf2 expression in the developing cerebral cortex. | Eckler MJ et al. | β | 2014 | β |
| Ndae1 expression and regulation in Drosophila embryos. | Tevy MF et al. | β | 2014 | β |
| Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion. | Ellegood J et al. | β | 2014 | β |
| Neuroimaging endophenotypes in animal models of autism spectrum disorders: lost or found in translation? | Petrinovic MM et al. | β | 2014 | β |
| Novel SNPs and INDEL polymorphisms in the 3'UTR of DGAT1 gene: in silico analyses and a possible association. | Rosse Ida C et al. | β | 2014 | β |
| Ohnologs are overrepresented in pathogenic copy number mutations. | McLysaght A et al. | β | 2014 | β |
| Parental age and the risk of autism spectrum disorders: findings from a Swedish population-based cohort. | Idring S et al. | β | 2014 | β |
| Pathophysiology of autism spectrum disorders: revisiting gastrointestinal involvement and immune imbalance. | Samsam M et al. | β | 2014 | β |
| Population clustering based on copy number variations detected from next generation sequencing data. | Duan J et al. | β | 2014 | β |
| Potential Role of Selenoenzymes and Antioxidant Metabolism in relation to Autism Etiology and Pathology. | Raymond LJ et al. | β | 2014 | β |
| Programmed Genome Rearrangements in the Ciliate Oxytricha. | Yerlici VT et al. | β | 2014 | β |
| Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. | Corominas R et al. | β | 2014 | β |
| Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology. | Cao H et al. | β | 2014 | β |
| Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. | Kim YS et al. | β | 2014 | β |
| Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. | Correia CT et al. | β | 2014 | β |
| Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. | Werling DM et al. | β | 2014 | β |
| SHC2 gene copy number in multiple system atrophy (MSA). | Ferguson MC et al. | β | 2014 | β |
| Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. | Cai X et al. | β | 2014 | β |
| SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. | Bowton E et al. | β | 2014 | β |
| Social Communication is an Emerging Target for Pharmacotherapy in Autism Spectrum Disorder - A Review of the Literature on Potential Agents. | Baribeau DA et al. | β | 2014 | β |
| Subthreshold traits of the broad autistic spectrum are distributed across different subgroups in parents, but not siblings, of probands with autism. | Robel L et al. | β | 2014 | β |
| Synaptic, transcriptional and chromatin genes disrupted in autism. | De Rubeis S et al. | β | 2014 | β |
| The contribution of de novo coding mutations to autism spectrum disorder. | Iossifov I et al. | β | 2014 | β |
| The contribution of epigenetics to understanding genetic factors in autism. | Hall L et al. | β | 2014 | β |
| The diverse genetic landscape of neurodevelopmental disorders. | Hu WF et al. | β | 2014 | β |
| The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1. | Materna-Kiryluk A et al. | β | 2014 | β |
| The genetic landscape of autism spectrum disorders. | Rosti RO et al. | β | 2014 | β |
| The genetics of microdeletion and microduplication syndromes: an update. | Watson CT et al. | β | 2014 | β |
| The hidden genetics of epilepsy-a clinically important new paradigm. | Thomas RH et al. | β | 2014 | β |
| Theory of mind and the social brain: implications for understanding the genetic basis of schizophrenia. | Martin AK et al. | β | 2014 | β |
| The role of BAF (mSWI/SNF) complexes in mammalian neural development. | Son EY et al. | β | 2014 | β |
| The role of de novo mutations in the genetics of autism spectrum disorders. | Ronemus M et al. | β | 2014 | β |
| The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment. | Rojas DC | β | 2014 | β |
| Towards bridging the gap between acid-base transporters and neuronal excitability modulation. | Liu Y et al. | β | 2014 | β |
| Transposable elements and psychiatric disorders. | Guffanti G et al. | β | 2014 | β |
| Treating the whole person with autism: the proceedings of the Autism Speaks National Autism Conference. | Coury DL et al. | β | 2014 | β |
| Twin studies in inherited eye disease. | Nag A et al. | β | 2014 | β |
| Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. | St Pourcain B et al. | β | 2014 | β |
| VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions. | Shi J et al. | β | 2014 | β |
| What epilepsy comorbidities are important to model in the laboratory? Clinical perspectives. | Shorvon S | β | 2014 | β |
| Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. | Campbell CD et al. | β | 2014 | β |
| A genome-wide survey of transgenerational genetic effects in autism. | Tsang KM et al. | β | 2013 | β |
| Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism. | Gu F et al. | β | 2013 | β |
| Altered social behaviours in neurexin 1Ξ± knockout mice resemble core symptoms in neurodevelopmental disorders. | Grayton HM et al. | β | 2013 | β |
| A method for calling copy number polymorphism using haplotypes. | Ho Jang G et al. | β | 2013 | β |
| A review of the role of female gender in autism spectrum disorders. | Kirkovski M et al. | β | 2013 | β |
| Biochemical and morphological characterization of A2BP1 in neuronal tissue. | Hamada N et al. | β | 2013 | β |
| Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA et al. | β | 2013 | β |
| Changing concepts and findings on autism. | Rutter M | β | 2013 | β |
| Clinical neurogenetics: autism spectrum disorders. | Mehta SQ et al. | β | 2013 | β |
| CNVannotator: a comprehensive annotation server for copy number variation in the human genome. | Zhao M et al. | β | 2013 | β |
| Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | Willsey AJ et al. | β | 2013 | β |
| Copy-number changes in evolution: rates, fitness effects and adaptive significance. | Katju V et al. | β | 2013 | β |
| Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders. | Chien WH et al. | β | 2013 | β |
| De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. | Hamilton PJ et al. | β | 2013 | β |
| Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches. | Abel HJ et al. | β | 2013 | β |
| Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? | Amiet C et al. | β | 2013 | β |
| Effect of copy number variants on outcomes for infants with single ventricle heart defects. | Carey AS et al. | β | 2013 | β |
| Epigenetics, autism spectrum, and neurodevelopmental disorders. | Rangasamy S et al. | β | 2013 | β |
| Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance. | Wang R et al. | β | 2013 | β |
| Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders. | Stamova BS et al. | β | 2013 | β |
| Evidence for dysregulation of axonal growth and guidance in the etiology of ASD. | McFadden K et al. | β | 2013 | β |
| GABAergic dysfunction in pediatric neuro-developmental disorders. | Smith-Hicks CL | β | 2013 | β |
| Identification and characterisation of Simiate, a novel protein linked to the fragile X syndrome. | Derlig K et al. | β | 2013 | β |
| Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS et al. | β | 2013 | β |
| Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations. | Zhao WW | β | 2013 | β |
| Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study. | Davis JM et al. | β | 2013 | β |
| Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants. | Sadakata T et al. | β | 2013 | β |
| Na(+) dependent acid-base transporters in the choroid plexus; insights from slc4 and slc9 gene deletion studies. | Christensen HL et al. | β | 2013 | β |
| NBPF is a potential DNA-binding transcription factor that is directly regulated by NF-ΞΊB. | Zhou F et al. | β | 2013 | β |
| Next-generation sequencing in schizophrenia and other neuropsychiatric disorders. | Schreiber M et al. | β | 2013 | β |
| Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome. | Campbell MG et al. | β | 2013 | β |
| PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. | Tsai EA et al. | β | 2013 | β |
| Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. | Campbell NG et al. | β | 2013 | β |
| Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges. | Lovci MT et al. | β | 2013 | β |
| Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model. | Lin PI et al. | β | 2013 | β |
| Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH. | Kousoulidou L et al. | β | 2013 | β |
| SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. | Dauber A et al. | β | 2013 | β |
| Serotonin gene variants are unlikely to play a significant role in the pathogenesis of the sudden infant death syndrome. | Paterson DS | β | 2013 | β |
| Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism. | Duffney LJ et al. | β | 2013 | β |
| SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. | An Y et al. | β | 2013 | β |
| Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. | Gulsuner S et al. | β | 2013 | β |
| The broader autism phenotype in simplex and multiplex families. | Gerdts JA et al. | β | 2013 | β |
| The comorbidity of ADHD and autism spectrum disorder. | Antshel KM et al. | β | 2013 | β |
| The genetic landscapes of autism spectrum disorders. | Huguet G et al. | β | 2013 | β |
| The genomics of schizophrenia: update and implications. | Giusti-RodrΓguez P et al. | β | 2013 | β |
| The role of AUTS2 in neurodevelopment and human evolution. | Oksenberg N et al. | β | 2013 | β |
| The unexpected role of copy number variations in juvenile myoclonic epilepsy. | Helbig I et al. | β | 2013 | β |
| Transmission disequilibrium of small CNVs in simplex autism. | Krumm N et al. | β | 2013 | β |