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Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.
Tan KT, Kim H, Carrot-Zhang J, Zhang Y, Kim WJ, Kugener G, Wala JA, Howard TP, Chi YY, Beroukhim R, Li H, Ha G, Alper SL, Perlman EJ, Mullen EA, Hahn WC, Meyerson M, Hong AL. Tan KT, et al. Among authors: alper sl. Genome Med. 2021 Jul 14;13(1):114. doi: 10.1186/s13073-021-00929-4. Genome Med. 2021. PMID: 34261517 Free PMC article.
Genetic risk factors for Mesoamerican nephropathy.
Friedman DJ, Leone DA, Amador JJ, Kupferman J, Francey LJ, Lopez-Pilarte D, Lau J, Delgado I, Yih WK, Salinas A, Wang M, Genovese G, Shah S, Kelly J, Tattersfield CF, Raines NH, Amador M, Dias L, Pitsillides A, Ramirez-Rubio O, Amador AG, Cortopassi M, Applebaum KM, Alper SL, Banks AS, McClean MD, Leibler JH, Scammell MK, Dupuis J, Brooks DR. Friedman DJ, et al. Among authors: alper sl. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2404848121. doi: 10.1073/pnas.2404848121. Epub 2024 Nov 25. Proc Natl Acad Sci U S A. 2024. PMID: 39585978
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Kirby A, et al. Among authors: alper sl. Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396133 Free PMC article.
A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.
Skorecki KL, Lee JH, Langefeld CD, Rosset S, Tzur S, Wasser WG, Shemer R, Hawkins GA, Divers J, Parekh RS, Li M, Sampson MG, Kretzler M, Pollak MR, Shah S, Blackler D, Nichols B, Wilmot M, Alper SL, Freedman BI, Friedman DJ. Skorecki KL, et al. Among authors: alper sl. Nephrol Dial Transplant. 2018 Feb 1;33(2):323-330. doi: 10.1093/ndt/gfw451. Nephrol Dial Transplant. 2018. PMID: 28339911 Free PMC article.
UBD modifies APOL1-induced kidney disease risk.
Zhang JY, Wang M, Tian L, Genovese G, Yan P, Wilson JG, Thadhani R, Mottl AK, Appel GB, Bick AG, Sampson MG, Alper SL, Friedman DJ, Pollak MR. Zhang JY, et al. Among authors: alper sl. Proc Natl Acad Sci U S A. 2018 Mar 27;115(13):3446-3451. doi: 10.1073/pnas.1716113115. Epub 2018 Mar 12. Proc Natl Acad Sci U S A. 2018. PMID: 29531077 Free PMC article.
369 results