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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD. Chen R, et al. Among authors: bettinger k. J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. Epub 2013 Jul 4. J Allergy Clin Immunol. 2013. PMID: 23830146 Free PMC article.
Secure cloud computing for genomic data.
Datta S, Bettinger K, Snyder M. Datta S, et al. Among authors: bettinger k. Nat Biotechnol. 2016 Jun 9;34(6):588-91. doi: 10.1038/nbt.3496. Nat Biotechnol. 2016. PMID: 27281411 No abstract available.
Personal omics profiling reveals dynamic molecular and medical phenotypes.
Chen R, Mias GI, Li-Pook-Than J, Jiang L, Lam HY, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, O'Huallachain M, Dudley JT, Hillenmeyer S, Haraksingh R, Sharon D, Euskirchen G, Lacroute P, Bettinger K, Boyle AP, Kasowski M, Grubert F, Seki S, Garcia M, Whirl-Carrillo M, Gallardo M, Blasco MA, Greenberg PL, Snyder P, Klein TE, Altman RB, Butte AJ, Ashley EA, Gerstein M, Nadeau KC, Tang H, Snyder M. Chen R, et al. Among authors: bettinger k. Cell. 2012 Mar 16;148(6):1293-307. doi: 10.1016/j.cell.2012.02.009. Cell. 2012. PMID: 22424236 Free PMC article.
Corrigendum: Secure cloud computing for genomic data.
Datta S, Bettinger K, Snyder M. Datta S, et al. Among authors: bettinger k. Nat Biotechnol. 2016 Oct 11;34(10):1072. doi: 10.1038/nbt1016-1072c. Nat Biotechnol. 2016. PMID: 27727225 No abstract available.
A scalable, secure, and interoperable platform for deep data-driven health management.
Bahmani A, Alavi A, Buergel T, Upadhyayula S, Wang Q, Ananthakrishnan SK, Alavi A, Celis D, Gillespie D, Young G, Xing Z, Nguyen MHH, Haque A, Mathur A, Payne J, Mazaheri G, Li JK, Kotipalli P, Liao L, Bhasin R, Cha K, Rolnik B, Celli A, Dagan-Rosenfeld O, Higgs E, Zhou W, Berry CL, Van Winkle KG, Contrepois K, Ray U, Bettinger K, Datta S, Li X, Snyder MP. Bahmani A, et al. Among authors: bettinger k. Nat Commun. 2021 Oct 1;12(1):5757. doi: 10.1038/s41467-021-26040-1. Nat Commun. 2021. PMID: 34599181 Free PMC article.
Author Correction: Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP).
Jain S, Pei L, Spraggins JM, Angelo M, Carson JP, Gehlenborg N, Ginty F, Gonçalves JP, Hagood JS, Hickey JW, Kelleher NL, Laurent LC, Lin S, Lin Y, Liu H, Naba A, Nakayasu ES, Qian WJ, Radtke A, Robson P, Stockwell BR, Van de Plas R, Vlachos IS, Zhou M; HuBMAP Consortium; Börner K, Snyder MP. Jain S, et al. Nat Cell Biol. 2024 May;26(5):839. doi: 10.1038/s41556-024-01384-0. Nat Cell Biol. 2024. PMID: 38429479 No abstract available.
Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP).
Jain S, Pei L, Spraggins JM, Angelo M, Carson JP, Gehlenborg N, Ginty F, Gonçalves JP, Hagood JS, Hickey JW, Kelleher NL, Laurent LC, Lin S, Lin Y, Liu H, Naba A, Nakayasu ES, Qian WJ, Radtke A, Robson P, Stockwell BR, Van de Plas R, Vlachos IS, Zhou M; HuBMAP Consortium; Börner K, Snyder MP. Jain S, et al. Nat Cell Biol. 2023 Aug;25(8):1089-1100. doi: 10.1038/s41556-023-01194-w. Epub 2023 Jul 19. Nat Cell Biol. 2023. PMID: 37468756 Free PMC article. Review.
13 results