Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
2016 · Nature Genetics · 1,120 citations
https://doi.org/10.1038/ng.3725
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Bhooma Thiruvahindrapuram
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Bhooma Thiruvahindrapuram is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases & Autism Spectrum Disorder Research. The author has an h-index of 39, co-authored 143 publications.
ORCID: 0000-0003-1128-008XPapers by this author
worksWhole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
2017 · Nature Neuroscience · 910 citations
https://doi.org/10.1038/nn.4524
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
2013 · The American Journal of Human Genetics · 491 citations
https://doi.org/10.1016/j.ajhg.2013.06.012
A large data resource of genomic copy number variation across neurodevelopmental disorders
2019 · npj Genomic Medicine · 189 citations
https://doi.org/10.1038/s41525-019-0098-3
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons
2018 · Stem Cell Reports · 165 citations
https://doi.org/10.1016/j.stemcr.2018.10.003
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
2015 · Nature Communications · 137 citations
https://doi.org/10.1038/ncomms9718
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