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EmbedGEM: a framework to evaluate the utility of embeddings for genetic discovery.
Mukherjee S, McCaw ZR, Pei J, Merkoulovitch A, Soare T, Tandon R, Amar D, Somineni H, Klein C, Satapati S, Lloyd D, Probert C; Insitro Research Team; Koller D, O'Dushlaine C, Karaletsos T. Mukherjee S, et al. Among authors: o dushlaine c. Bioinform Adv. 2024 Sep 17;4(1):vbae135. doi: 10.1093/bioadv/vbae135. eCollection 2024. Bioinform Adv. 2024. PMID: 39664859 Free PMC article.
An allelic-series rare-variant association test for candidate-gene discovery.
McCaw ZR, O'Dushlaine C, Somineni H, Bereket M, Klein C, Karaletsos T, Casale FP, Koller D, Soare TW. McCaw ZR, et al. Among authors: o dushlaine c. Am J Hum Genet. 2023 Aug 3;110(8):1330-1342. doi: 10.1016/j.ajhg.2023.07.001. Epub 2023 Jul 25. Am J Hum Genet. 2023. PMID: 37494930 Free PMC article.
Distinct genetic liability profiles define clinically relevant patient strata across common diseases.
Trastulla L, Dolgalev G, Moser S, Jiménez-Barrón LT, Andlauer TFM, von Scheidt M; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Budde M, Heilbronner U, Papiol S, Teumer A, Homuth G, Völzke H, Dörr M, Falkai P, Schulze TG, Gagneur J, Iorio F, Müller-Myhsok B, Schunkert H, Ziller MJ. Trastulla L, et al. Nat Commun. 2024 Jul 1;15(1):5534. doi: 10.1038/s41467-024-49338-2. Nat Commun. 2024. PMID: 38951512 Free PMC article.
Whole-genome sequencing across 449 samples spanning 47 ethnolinguistic groups provides insights into genetic diversity in Nigeria.
Joshi E, Biddanda A, Popoola J, Yakubu A, Osakwe O, Attipoe D; 54gene Team; NCD-GHS Consortium; Dogbo E, Salako B, Nash O, Salako O, Oyedele O, Eze-Echesi G, Fatumo S, Ene-Obong A, O'Dushlaine C. Joshi E, et al. Among authors: o dushlaine c. Cell Genom. 2023 Aug 8;3(9):100378. doi: 10.1016/j.xgen.2023.100378. eCollection 2023 Sep 13. Cell Genom. 2023. PMID: 37719143 Free PMC article.
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia.
Hsu YH, Pintacuda G, Liu R, Nacu E, Kim A, Tsafou K, Petrossian N, Crotty W, Suh JM, Riseman J, Martin JM, Biagini JC, Mena D, Ching JKT, Malolepsza E, Li T, Singh T, Ge T, Egri SB, Tanenbaum B, Stanclift CR, Apffel AM; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Stanley Global Asia Initiatives; Carr SA, Schenone M, Jaffe J, Fornelos N, Huang H, Eggan KC, Lage K. Hsu YH, et al. iScience. 2023 Apr 18;26(5):106701. doi: 10.1016/j.isci.2023.106701. eCollection 2023 May 19. iScience. 2023. PMID: 37207277 Free PMC article.
Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project.
Fatumo S, Yakubu A, Oyedele O, Popoola J, Attipoe DA, Eze-Echesi G, Modibbo FZ, Ado-Wanka N; 54gene Team; NCD-GHS Consortium; Salako O, Nashiru O, Salako BL, O'Dushlaine C, Ene-Obong A. Fatumo S, et al. Among authors: o dushlaine c. Nat Genet. 2022 May;54(5):531-536. doi: 10.1038/s41588-022-01071-6. Nat Genet. 2022. PMID: 35534563 No abstract available.
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.
Horowitz JE, Kosmicki JA, Damask A, Sharma D, Roberts GHL, Justice AE, Banerjee N, Coignet MV, Yadav A, Leader JB, Marcketta A, Park DS, Lanche R, Maxwell E, Knight SC, Bai X, Guturu H, Sun D, Baltzell A, Kury FSP, Backman JD, Girshick AR, O'Dushlaine C, McCurdy SR, Partha R, Mansfield AJ, Turissini DA, Li AH, Zhang M, Mbatchou J, Watanabe K, Gurski L, McCarthy SE, Kang HM, Dobbyn L, Stahl E, Verma A, Sirugo G; Regeneron Genetics Center; Ritchie MD, Jones M, Balasubramanian S, Siminovitch K, Salerno WJ, Shuldiner AR, Rader DJ, Mirshahi T, Locke AE, Marchini J, Overton JD, Carey DJ, Habegger L, Cantor MN, Rand KA, Hong EL, Reid JG, Ball CA, Baras A, Abecasis GR, Ferreira MAR. Horowitz JE, et al. Among authors: o dushlaine c. Nat Genet. 2022 Apr;54(4):382-392. doi: 10.1038/s41588-021-01006-7. Epub 2022 Mar 3. Nat Genet. 2022. PMID: 35241825 Free PMC article.
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Merkle FT, Ghosh S, Genovese G, Handsaker RE, Kashin S, Meyer D, Karczewski KJ, O'Dushlaine C, Pato C, Pato M, MacArthur DG, McCarroll SA, Eggan K. Merkle FT, et al. Among authors: o dushlaine c. Cell Stem Cell. 2022 Mar 3;29(3):472-486.e7. doi: 10.1016/j.stem.2022.01.011. Epub 2022 Feb 16. Cell Stem Cell. 2022. PMID: 35176222 Free PMC article.
122 results