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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.
Guo MG, Reynolds DL, Ang CE, Liu Y, Zhao Y, Donohue LKH, Siprashvili Z, Yang X, Yoo Y, Mondal S, Hong A, Kain J, Meservey L, Fabo T, Elfaki I, Kellman LN, Abell NS, Pershad Y, Bayat V, Etminani P, Holodniy M, Geschwind DH, Montgomery SB, Duncan LE, Urban AE, Altman RB, Wernig M, Khavari PA. Guo MG, et al. Among authors: kain j. Nat Genet. 2023 Nov;55(11):1876-1891. doi: 10.1038/s41588-023-01533-5. Epub 2023 Oct 19. Nat Genet. 2023. PMID: 37857935
Hypothalamus-Pituitary-Adrenal Dysfunction in Cholestatic Liver Disease.
Petrescu AD, Kain J, Liere V, Heavener T, DeMorrow S. Petrescu AD, et al. Among authors: kain j. Front Endocrinol (Lausanne). 2018 Nov 12;9:660. doi: 10.3389/fendo.2018.00660. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 30483216 Free PMC article. Review.
15 results