Pages that link to "Q30572502"

The following pages link to Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts (Q30572502):

Displayed 50 items.

• Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder (Q24624740) ‎ (← links)
• Genetics and genomics of psychiatric disease (Q26781213) ‎ (← links)
• The Impact of Neuroimmune Alterations in Autism Spectrum Disorder (Q26781540) ‎ (← links)
• Big data and clinicians: a review on the state of the science (Q27012044) ‎ (← links)
• Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape (Q28076465) ‎ (← links)
• Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder (Q28277540) ‎ (← links)
• Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders (Q30439224) ‎ (← links)
• Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities (Q31142266) ‎ (← links)
• Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence (Q33581309) ‎ (← links)
• Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome (Q33590026) ‎ (← links)
• Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. (Q33651529) ‎ (← links)
• Genomic imprinting does not reduce the dosage of UBE3A in neurons. (Q33691676) ‎ (← links)
• The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism (Q33764400) ‎ (← links)
• Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. (Q33772616) ‎ (← links)
• Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern (Q33792567) ‎ (← links)
• Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (Q33794546) ‎ (← links)
• Potential Value of Genomic Copy Number Variations in Schizophrenia (Q33819207) ‎ (← links)
• Bio-collections in autism research (Q33892169) ‎ (← links)
• The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism (Q34171055) ‎ (← links)
• Refining analyses of copy number variation identifies specific genes associated with developmental delay (Q34254472) ‎ (← links)
• Overview of mouse models of autism spectrum disorders (Q34294538) ‎ (← links)
• Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (Q34495555) ‎ (← links)
• Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism (Q35225285) ‎ (← links)
• Copy number variants, aneuploidies, and human disease (Q35694174) ‎ (← links)
• The genetics of microdeletion and microduplication syndromes: an update. (Q35765523) ‎ (← links)
• Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients (Q35868338) ‎ (← links)
• Variation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction. (Q36063152) ‎ (← links)
• Autism spectrum disorders: from genes to neurobiology (Q36101188) ‎ (← links)
• The human clinical phenotypes of altered CHRNA7 copy number (Q36144791) ‎ (← links)
• Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications (Q36154515) ‎ (← links)
• Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders (Q36246158) ‎ (← links)
• Gene hunting in autism spectrum disorder: on the path to precision medicine (Q36412509) ‎ (← links)
• α5GABAA receptor deficiency causes autism-like behaviors (Q36891740) ‎ (← links)
• Topoisomerases facilitate transcription of long genes linked to autism (Q37156727) ‎ (← links)
• Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families (Q37231388) ‎ (← links)
• 15q13.3 duplication in two patients with childhood-onset schizophrenia (Q37348932) ‎ (← links)
• Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation (Q37349750) ‎ (← links)
• A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism. (Q37439104) ‎ (← links)
• The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature (Q37449290) ‎ (← links)
• Analysis of copy number variations at 15 schizophrenia-associated loci. (Q37541157) ‎ (← links)
• Epigenomic strategies at the interface of genetic and environmental risk factors for autism (Q37638802) ‎ (← links)
• A literature search tool for intelligent extraction of disease-associated genes (Q37715375) ‎ (← links)
• Autism spectrum disorder in the genetics clinic: a review. (Q38083092) ‎ (← links)
• Etiology of autism spectrum disorder: a genomics perspective (Q38248433) ‎ (← links)
• Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications (Q38616673) ‎ (← links)
• Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader-Willi Syndrome at High Risk for Psychosis (Q38683122) ‎ (← links)
• Clinical phenotype of the recurrent 1q21.1 copy-number variant (Q39132862) ‎ (← links)
• Autism genetics: opportunities and challenges for clinical translation (Q39162331) ‎ (← links)
• Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities (Q40250116) ‎ (← links)
• Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis (Q42783360) ‎ (← links)