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1995 1
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29 results

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Page 1
The impact of rare protein coding genetic variation on adult cognitive function.
Chen CY, Tian R, Ge T, Lam M, Sanchez-Andrade G, Singh T, Urpa L, Liu JZ, Sanderson M, Rowley C, Ironfield H, Fang T; Biogen Biobank Team; SUPER-Finland study; Northern Finland Intellectual Disability study; Daly M, Palotie A, Tsai EA, Huang H, Hurles ME, Gerety SS, Lencz T, Runz H. Chen CY, et al. Among authors: gerety ss. Nat Genet. 2023 Jun;55(6):927-938. doi: 10.1038/s41588-023-01398-8. Epub 2023 May 25. Nat Genet. 2023. PMID: 37231097 Free PMC article.
Rare genetic variants impact muscle strength.
Huang Y, Bodnar D, Chen CY, Sanchez-Andrade G, Sanderson M; Biogen Biobank Team; Shi J, Meilleur KG, Hurles ME, Gerety SS, Tsai EA, Runz H. Huang Y, et al. Among authors: gerety ss. Nat Commun. 2023 Jun 10;14(1):3449. doi: 10.1038/s41467-023-39247-1. Nat Commun. 2023. PMID: 37301943 Free PMC article.
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ, Tan HK, Andersson MHL, Stephenson JD, Gardner EJ, Ironfield H, Waters AJ, Gitterman D, Lindsay S, Abascal F, Martincorena I, Kolesnik-Taylor A, Ng-Cordell E, Firth HV, Baker K, Perry JRB, Adams DJ, Gerety SS, Hurles ME. Radford EJ, et al. Among authors: gerety ss. Nat Commun. 2023 Dec 6;14(1):7702. doi: 10.1038/s41467-023-43041-4. Nat Commun. 2023. PMID: 38057330 Free PMC article.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: gerety ss. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ, Brendler-Spaeth T, Smith D, Offord V, Tan HK, Zhao Y, Obolenski S, Nielsen M, van Doorn R, Murphy JE, Gupta P, Rowlands CF, Hanson H, Delage E, Thomas M, Radford EJ, Gerety SS, Turnbull C, Perry JRB, Hurles ME, Adams DJ. Waters AJ, et al. Among authors: gerety ss. Nat Genet. 2024 Jul;56(7):1434-1445. doi: 10.1038/s41588-024-01799-3. Epub 2024 Jul 5. Nat Genet. 2024. PMID: 38969833 Free PMC article.
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M; MIBAVA Leducq Consortium principal investigators; Elpeleg O, Hitz MP, Andelfinger G. Wünnemann F, et al. Among authors: gerety ss. Nat Genet. 2020 Jan;52(1):40-47. doi: 10.1038/s41588-019-0536-2. Epub 2019 Dec 16. Nat Genet. 2020. PMID: 31844321 Free PMC article.
Contribution of retrotransposition to developmental disorders.
Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, Gerety SS, Ironfield H, Short PJ, Sifrim A, Singh T, Chandler KE, Clement E, Lachlan KL, Prescott K, Rosser E, FitzPatrick DR, Firth HV, Hurles ME. Gardner EJ, et al. Among authors: gerety ss. Nat Commun. 2019 Oct 11;10(1):4630. doi: 10.1038/s41467-019-12520-y. Nat Commun. 2019. PMID: 31604926 Free PMC article.
Optimized whole-genome CRISPR interference screens identify ARID1A-dependent growth regulators in human induced pluripotent stem cells.
Usluer S, Hallast P, Crepaldi L, Zhou Y, Urgo K, Dincer C, Su J, Noell G, Alasoo K, El Garwany O, Gerety SS, Newman B, Dovey OM, Parts L. Usluer S, et al. Among authors: gerety ss. Stem Cell Reports. 2023 May 9;18(5):1061-1074. doi: 10.1016/j.stemcr.2023.03.008. Epub 2023 Apr 6. Stem Cell Reports. 2023. PMID: 37028423 Free PMC article.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study. Aitken S, et al. Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607427 Free PMC article.
29 results