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Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration.
Todd JN, Kleinberger JW, Zhang H, Srinivasan S, Tollefsen SE, Levitsky LL, Levitt Katz LE, Tryggestad JB, Bacha F, Imperatore G, Lawrence JM, Pihoker C, Divers J, Flannick J, Dabelea D, Florez JC, Pollin TI. Todd JN, et al. Among authors: zhang h. Diabetes Care. 2021 Aug 6;44(10):2312-9. doi: 10.2337/dc21-0491. Online ahead of print. Diabetes Care. 2021. PMID: 34362814 Free PMC article.
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Stro… See abstract for full author list ➔ Goodrich JK, et al. Among authors: zhang h. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.
Zhang H, Kleinberger JW, Maloney KA, Guan Y, Mathias TJ, Bisordi K, Streeten EA, Blessing K, Snyder MN, Bromberger LA, Goehringer J, Kimball A, Damcott CM, Taylor CO, Nicholson M, Nwaba D, Palmer K, Sewell D, Ambulos N, Jeng LJB, Shuldiner AR, Levin P, Carey DJ, Pollin TI. Zhang H, et al. Diabetes Care. 2022 Aug 1;45(8):1799-1806. doi: 10.2337/dc21-1975. Diabetes Care. 2022. PMID: 35763601 Free PMC article.
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.
Pavithram A, Zhang H, Maloney KA, Ringdal M, Kaci A, Sagen JV, Kleinberger J, Jeng LJB, Njølstad PR, Pollin TI, Molnes J, Johansson BB. Pavithram A, et al. Among authors: zhang h. J Mol Diagn. 2024 Jun;26(6):530-541. doi: 10.1016/j.jmoldx.2024.03.006. Epub 2024 Apr 3. J Mol Diagn. 2024. PMID: 38575066 Free article.
Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.
Wan X, Perry J, Zhang H, Jin F, Ryan KA, Van Hout C, Reid J, Overton J, Baras A, Han Z, Streeten E, Li Y, Mitchell BD, Shuldiner AR, Fu M; Regeneron Genetics Center. Wan X, et al. Among authors: zhang h. J Am Soc Nephrol. 2021 Mar;32(3):756-765. doi: 10.1681/ASN.2020071030. Epub 2021 Feb 4. J Am Soc Nephrol. 2021. PMID: 33542107 Free PMC article.
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