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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: lebo ms. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Natarajan P, Zekavat S, Lin SH, Bick A, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello J, Pampana A, Loh PR, Kohli P, McCarroll S, Neale B, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Terao C, Zhao H, Ebert B, Machiela M, Genovese G. Natarajan P, et al. Res Sq [Preprint]. 2020 Nov 16:rs.3.rs-100817. doi: 10.21203/rs.3.rs-100817/v1. Res Sq. 2020. Update in: Nat Med. 2021 Jun;27(6):1012-1024. doi: 10.1038/s41591-021-01371-0 PMID: 33236004 Free PMC article. Updated. Preprint.
Pathology informatics fellowship training: Focus on molecular pathology.
Mandelker D, Lee RE, Platt MY, Riedlinger G, Quinn A, Rao LK, Klepeis VE, Mahowald M, Lane WJ, Beckwith BA, Baron JM, McClintock DS, Kuo FC, Lebo MS, Gilbertson JR. Mandelker D, et al. Among authors: lebo ms. J Pathol Inform. 2014 Mar 28;5(1):11. doi: 10.4103/2153-3539.129444. eCollection 2014. J Pathol Inform. 2014. PMID: 24843823 Free PMC article.
Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Neale B, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium; Terao C, Zhao H, Ebert BL; COVID-19 Host Genetics Initiative; Ganna A, Machiela MJ, Genovese G, Natarajan P. Zekavat SM, et al. medRxiv [Preprint]. 2020 Nov 16:2020.11.12.20230821. doi: 10.1101/2020.11.12.20230821. medRxiv. 2020. PMID: 33236019 Free PMC article. Preprint.
114 results