Bhooma Thiruvahindrapuram

COLLABORATIVE STUDY OF THE COMBINED EFFECTS OF RARE CNVS AND POLYGENIC RISK ON PSYCHIATRIC TRAITS

European Neuropsychopharmacology 2024cited by 0position: middledoi

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

Cell Genomics 2023cited by 43position: middledoi

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Cell 2022cited by 274position: middledoi

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Nature Genetics 2022cited by 55position: middledoi

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

npj Genomic Medicine 2022cited by 39position: middledoi

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia

Molecular Psychiatry 2022cited by 29position: middledoi

A large data resource of genomic copy number variation across neurodevelopmental disorders

npj Genomic Medicine 2019cited by 199position: middledoi

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

Nature Communications 2019cited by 40position: middledoi

Paternally inherited cis-regulatory structural variants are associated with autism

Science 2018cited by 220position: middledoi

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Nature Neuroscience 2017cited by 933position: middledoi

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Nature Genetics 2016cited by 1,134position: middledoi

Genome-wide characteristics of de novo mutations in autism

npj Genomic Medicine 2016cited by 238position: middledoi

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Scientific Reports 2016cited by 47position: middledoi

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium

bioRxiv (Cold Spring Harbor Laboratory) 2016cited by 11position: middledoi

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

The American Journal of Human Genetics 2014cited by 1,020position: middledoi

Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study

Journal of the American Academy of Child & Adolescent Psychiatry 2014cited by 143position: middledoi

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

American Journal of Medical Genetics Part B Neuropsychiatric Genetics 2014cited by 86position: middledoi

Copy number variation in Han Chinese individuals with autism spectrum disorder

Journal of Neurodevelopmental Disorders 2014cited by 64position: middledoi

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

The American Journal of Human Genetics 2013cited by 496position: middledoi

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Human Molecular Genetics 2013cited by 174position: middledoi

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