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Page 1
Next generation sequencing and the classical HLA loci in full heritage Pima Indians of Arizona: Defining the core HLA variation for North American Paleo-Indians.
Williams RC, Knowler WC, Shuldiner AR, Gosalia N, Van Hout C, Regeneron Genetics Center, Hanson RL, Bogardus C, Baier LJ. Williams RC, et al. Among authors: gosalia n. Hum Immunol. 2019 Dec;80(12):955-965. doi: 10.1016/j.humimm.2019.10.002. Epub 2019 Nov 6. Hum Immunol. 2019. PMID: 31706744 Free article.
Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.
Piaggi P, Köroğlu Ç, Nair AK, Sutherland J, Muller YL, Kumar P, Hsueh WC, Kobes S, Shuldiner AR, Kim HI, Gosalia N, Van Hout CV, Jones M, Knowler WC, Krakoff J, Hanson RL, Bogardus C, Baier LJ. Piaggi P, et al. Among authors: gosalia n. J Clin Endocrinol Metab. 2020 Nov 1;105(11):e3989-4000. doi: 10.1210/clinem/dgaa548. J Clin Endocrinol Metab. 2020. PMID: 32818236 Free PMC article.
Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A, -B, and -C with selected non-classical loci at 4-field resolution from whole genome sequences.
Williams RC, Koroglu C, Knowler WC, Shuldiner AR, Gosalia N, Van Hout C, Hanson RL, Bogardus C, Baier LJ. Williams RC, et al. Among authors: gosalia n. Hum Immunol. 2021 Jun;82(6):385-403. doi: 10.1016/j.humimm.2021.03.013. Epub 2021 Apr 17. Hum Immunol. 2021. PMID: 33875299 Free PMC article.
Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.
Day SE, Muller YL, Koroglu C, Kobes S, Wiedrich K, Mahkee D, Kim HI, Van Hout C, Gosalia N, Ye B; Regeneron Genetics Center; Shuldiner AR, Knowler WC, Hanson RL, Bogardus C, Baier LJ. Day SE, et al. Among authors: gosalia n. Obesity (Silver Spring). 2021 Apr;29(4):748-754. doi: 10.1002/oby.23115. Epub 2021 Feb 22. Obesity (Silver Spring). 2021. PMID: 33616283 Free PMC article.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Staples J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, Snyder C, Hawes A, Penn J, Ulloa R, Bai X, Lopez AE, Van Hout CV, O'Dushlaine C, Teslovich TM, McCarthy SE, Balasubramanian S, Kirchner HL, Leader JB, Murray MF, Ledbetter DH, Shuldiner AR, Yancoupolos GD, Dewey FE, Carey DJ, Overton JD, Baras A, Habegger L, Reid JG. Staples J, et al. Among authors: gosalia n. Am J Hum Genet. 2018 May 3;102(5):874-889. doi: 10.1016/j.ajhg.2018.03.012. Am J Hum Genet. 2018. PMID: 29727688 Free PMC article.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Dewey FE, et al. Among authors: gosalia n. Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. Science. 2016. PMID: 28008009
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.
Streeten EA, See VY, Jeng LBJ, Maloney KA, Lynch M, Glazer AM, Yang T, Roden D, Pollin TI, Daue M, Ryan KA, Van Hout C, Gosalia N, Gonzaga-Jauregui C, Economides A, Perry JA, O'Connell J, Beitelshees A, Palmer K, Mitchell BD, Shuldiner AR; Regeneron Genetics Center*. Streeten EA, et al. Among authors: gosalia n. Circ Genom Precis Med. 2020 Dec;13(6):e003133. doi: 10.1161/CIRCGEN.120.003133. Epub 2020 Nov 3. Circ Genom Precis Med. 2020. PMID: 33141630 Free PMC article.
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Horowitz JE, Warner N, Staples J, Crowley E, Gosalia N, Murchie R, Van Hout C, Fiedler K, Welch G, King AK, Reid JG, Overton JD, Baras A, Shuldiner AR, Griffiths A, Gottesman O, Muise AM, Gonzaga-Jauregui C. Horowitz JE, et al. Among authors: gosalia n. Sci Rep. 2021 Mar 10;11(1):5595. doi: 10.1038/s41598-021-84938-8. Sci Rep. 2021. PMID: 33692434 Free PMC article. Clinical Trial.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O'Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE. Abul-Husn NS, et al. Among authors: gosalia n. N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191. N Engl J Med. 2018. PMID: 29562163 Free PMC article.
24 results