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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
medRxiv [Preprint]. 2024 Aug 28:2024.08.27.24312158. doi: 10.1101/2024.08.27.24312158.
medRxiv. 2024.
PMID: 39252907
Free PMC article.
Preprint.
A large meta-analysis identifies genes associated with anterior uveitis.
Gelfman S, Moscati A, Huergo SM, Wang R, Rajagopal V, Parikshak N, Pounraja VK, Chen E, Leblanc M, Hazlewood R, Freudenberg J, Cooper B, Ligocki AJ, Miller CG, Van Zyl T, Weyne J, Romano C, Sagdullaev B, Melander O, Baras A; Regeneron Genetics Center; Stahl EA, Coppola G.
Gelfman S, et al. Among authors: pounraja vk.
Nat Commun. 2023 Nov 11;14(1):7300. doi: 10.1038/s41467-023-43036-1.
Nat Commun. 2023.
PMID: 37949852
Free PMC article.
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A general framework for identifying oligogenic combinations of rare variants in complex disorders.
Pounraja VK, Girirajan S.
Pounraja VK, et al.
Genome Res. 2022 May;32(5):904-915. doi: 10.1101/gr.276348.121. Epub 2022 Mar 17.
Genome Res. 2022.
PMID: 35301265
Free PMC article.
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Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.
Pizzo L, Lasser M, Yusuff T, Jensen M, Ingraham P, Huber E, Singh MD, Monahan C, Iyer J, Desai I, Karthikeyan S, Gould DJ, Yennawar S, Weiner AT, Pounraja VK, Krishnan A, Rolls MM, Lowery LA, Girirajan S.
Pizzo L, et al. Among authors: pounraja vk.
PLoS Genet. 2021 Apr 5;17(4):e1009112. doi: 10.1371/journal.pgen.1009112. eCollection 2021 Apr.
PLoS Genet. 2021.
PMID: 33819264
Free PMC article.
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A machine-learning approach for accurate detection of copy number variants from exome sequencing.
Pounraja VK, Jayakar G, Jensen M, Kelkar N, Girirajan S.
Pounraja VK, et al.
Genome Res. 2019 Jul;29(7):1134-1143. doi: 10.1101/gr.245928.118. Epub 2019 Jun 6.
Genome Res. 2019.
PMID: 31171634
Free PMC article.
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Molecular basis for phenotypic similarity of genetic disorders.
Pounraja VK, Girirajan S.
Pounraja VK, et al.
Genome Med. 2019 Apr 23;11(1):24. doi: 10.1186/s13073-019-0641-y.
Genome Med. 2019.
PMID: 31014384
Free PMC article.
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