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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: dronzek j. Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6. Eur J Hum Genet. 2020. PMID: 32376988 Free PMC article.
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. Nistala H, et al. Among authors: dronzek j. Hum Mol Genet. 2021 Jan 6;29(21):3516-3531. doi: 10.1093/hmg/ddaa237. Hum Mol Genet. 2021. PMID: 33105479 Free PMC article.
Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.
Chim SM, Howell K, Dronzek J, Wu W, Van Hout C, Ferreira MAR, Ye B, Li A, Brydges S, Arunachalam V, Marcketta A, Locke AE, Bovijn J, Verweij N, De T, Lotta L, Mitnaul L, LeBlanc M, Center RG, Carey DJ, Melander O, Shuldiner A, Karalis K, Economides AN, Nistala H; DiscovEHR collaboration; Regeneron Genetics Center. Chim SM, et al. Among authors: dronzek j. Elife. 2024 Dec 13;12:RP90419. doi: 10.7554/eLife.90419. Elife. 2024. PMID: 39671241 Free PMC article.