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Page 1
Examining the role of common variants in rare neurodevelopmental conditions.
Huang QQ, Wigdor EM, Malawsky DS, Campbell P, Samocha KE, Chundru VK, Danecek P, Lindsay S, Marchant T, Koko M, Amanat S, Bonfanti D, Sheridan E, Radford EJ, Barrett JC, Wright CF, Firth HV, Warrier V, Strudwick Young A, Hurles ME, Martin HC. Huang QQ, et al. Among authors: malawsky ds. Nature. 2024 Dec;636(8042):404-411. doi: 10.1038/s41586-024-08217-y. Epub 2024 Nov 20. Nature. 2024. PMID: 39567701 Free PMC article.
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Chundru VK, Zhang Z, Walter K, Lindsay SJ, Danecek P, Eberhardt RY, Gardner EJ, Malawsky DS, Wigdor EM, Torene R, Retterer K, Wright CF, Ólafsdóttir H, Guillen Sacoto MJ, Ayaz A, Akbeyaz IH, Türkdoğan D, Al Balushi AI, Bertoli-Avella A, Bauer P, Szenker-Ravi E, Reversade B, McWalter K, Sheridan E, Firth HV, Hurles ME, Samocha KE, Ustach VD, Martin HC. Chundru VK, et al. Among authors: malawsky ds. Nat Genet. 2024 Oct;56(10):2046-2053. doi: 10.1038/s41588-024-01910-8. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313616 Free PMC article.
An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profiles.
Zhang X, Grove J, Gu Y, Buus CK, Nielsen LK, Neufeld SAS, Koko M, Malawsky DS, Wade E, Verhoef E, Gui A, Hegemann L; APEX consortium; iPSYCH Autism Consortium; PGC-PTSD Consortium; Geschwind DH, Wray NR, Havdahl A, Ronald A, St Pourcain B, Robinson EB, Bourgeron T, Baron-Cohen S, Børglum AD, Martin HC, Warrier V. Zhang X, et al. Among authors: malawsky ds. medRxiv [Preprint]. 2024 Aug 2:2024.07.31.24311279. doi: 10.1101/2024.07.31.24311279. medRxiv. 2024. PMID: 39132493 Free PMC article. Preprint.
Influence of autozygosity on common disease risk across the phenotypic spectrum.
Malawsky DS, van Walree E, Jacobs BM, Heng TH, Huang QQ, Sabir AH, Rahman S, Sharif SM, Khan A, Mirkov MU; 23andMe Research Team; Genes & Health Research Team; Kuwahara H, Gao X, Alkuraya FS, Posthuma D, Newman WG, Griffiths CJ, Mathur R, van Heel DA, Finer S, O'Connell J, Martin HC. Malawsky DS, et al. Cell. 2023 Oct 12;186(21):4514-4527.e14. doi: 10.1016/j.cell.2023.08.028. Epub 2023 Sep 26. Cell. 2023. PMID: 37757828 Free PMC article.
Preventing recurrence in Sonic Hedgehog Subgroup Medulloblastoma using the OLIG2 inhibitor CT-179.
Li Y, Lim C, Dismuke T, Malawsky DS, Oasa S, Bruce ZC, Offenhäuser C, Baumgartner U, D'Souza RCJ, Edwards SL, French JD, Ock LSH, Nair S, Sivakumaran H, Harris L, Tikunov AP, Hwang D, Del Mar Alicea Pauneto C, Maybury M, Hassall T, Wainwright B, Kesari S, Stein G, Piper M, Johns TG, Sokolsky-Papkov M, Terenius L, Vukojević V, Gershon TR, Day BW. Li Y, et al. Among authors: malawsky ds. Res Sq [Preprint]. 2023 Jun 9:rs.3.rs-2949436. doi: 10.21203/rs.3.rs-2949436/v1. Res Sq. 2023. PMID: 37333134 Free PMC article. Preprint.
Fine-scale population structure and demographic history of British Pakistanis.
Arciero E, Dogra SA, Malawsky DS, Mezzavilla M, Tsismentzoglou T, Huang QQ, Hunt KA, Mason D, Sharif SM, van Heel DA, Sheridan E, Wright J, Small N, Carmi S, Iles MM, Martin HC. Arciero E, et al. Among authors: malawsky ds. Nat Commun. 2021 Dec 10;12(1):7189. doi: 10.1038/s41467-021-27394-2. Nat Commun. 2021. PMID: 34893604 Free PMC article.
Neoplastic and immune single-cell transcriptomics define subgroup-specific intra-tumoral heterogeneity of childhood medulloblastoma.
Riemondy KA, Venkataraman S, Willard N, Nellan A, Sanford B, Griesinger AM, Amani V, Mitra S, Hankinson TC, Handler MH, Sill M, Ocasio J, Weir SJ, Malawsky DS, Gershon TR, Garancher A, Wechsler-Reya RJ, Hesselberth JR, Foreman NK, Donson AM, Vibhakar R. Riemondy KA, et al. Among authors: malawsky ds. Neuro Oncol. 2022 Feb 1;24(2):273-286. doi: 10.1093/neuonc/noab135. Neuro Oncol. 2022. PMID: 34077540 Free PMC article.