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744 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: sanderson m. 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: sanderson m. Nat Commun. 2023 Jun 10;14(1):3449. doi: 10.1038/s41467-023-39247-1. Nat Commun. 2023. PMID: 37301943 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: sanderson m. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.
Jia G, Chen Z, Ping J, Cai Q, Tao R, Li C, Bauer JA, Xie Y, Ambs S, Barnard ME, Chen Y, Choi JY, Gao YT, Garcia-Closas M, Gu J, Hu JJ, Iwasaki M, John EM, Kweon SS, Li CI, Matsuda K, Matsuo K, Nathanson KL, Nemesure B, Olopade OI, Pal T, Park SK, Park B, Press MF, Sanderson M, Sandler DP, Shen CY, Troester MA, Yao S, Zheng Y, Ahearn T, Brewster AM, Falusi A, Hennis AJM, Ito H, Kubo M, Lee ES, Makumbi T, Ndom P, Noh DY, O'Brien KM, Ojengbede O, Olshan AF, Park MH, Reid S, Yamaji T, Zirpoli G, Butler EN, Huang M, Low SK, Obafunwa J, Weinberg CR, Zhang H, Zhao H, Cote ML, Ambrosone CB, Huo D, Li B, Kang D, Palmer JR, Shu XO, Haiman CA, Guo X, Long J, Zheng W. Jia G, et al. Among authors: sanderson m. Nat Genet. 2025 Jan;57(1):80-87. doi: 10.1038/s41588-024-02031-y. Epub 2025 Jan 3. Nat Genet. 2025. PMID: 39753771
Human hypofunctional NCF1 variants promote pulmonary fibrosis in the bleomycin-induced mouse model and patients with systemic sclerosis via expansion of SPP1+ monocytes-derived macrophages.
Yuan X, Qin X, Takemoto K, Zhao J, Sanderson M, Xu X, Zhang Y, Helke KL, Jacobs Wolf B, Guthridge JM, James JA, Zhou X, Assassi S, Feghali-Bostwick C, Wang D, Sun L, Tsao BP. Yuan X, et al. Among authors: sanderson m. Ann Rheum Dis. 2024 Sep 24:ard-2024-226034. doi: 10.1136/ard-2024-226034. Online ahead of print. Ann Rheum Dis. 2024. PMID: 39299725
744 results