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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: schadt ee. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G, Birch AH, Schreiber-Agus N, Cai X, Cai G, Shi L, Yu C, Larmore AM, Mendiratta-Vij G, Elkhoury L, Dillon MW, Zhu J, Mclellan AS, Suer FE, Webb BD, Schadt EE, Kornreich R, Edelmann L. Akler G, et al. Among authors: schadt ee. Mol Genet Genomic Med. 2020 Feb;8(2):e1053. doi: 10.1002/mgg3.1053. Epub 2019 Dec 27. Mol Genet Genomic Med. 2020. PMID: 31880409 Free PMC article.
Molecular subtyping of Alzheimer's disease using RNA sequencing data reveals novel mechanisms and targets.
Neff RA, Wang M, Vatansever S, Guo L, Ming C, Wang Q, Wang E, Horgusluoglu-Moloch E, Song WM, Li A, Castranio EL, Tcw J, Ho L, Goate A, Fossati V, Noggle S, Gandy S, Ehrlich ME, Katsel P, Schadt E, Cai D, Brennand KJ, Haroutunian V, Zhang B. Neff RA, et al. Sci Adv. 2021 Jan 6;7(2):eabb5398. doi: 10.1126/sciadv.abb5398. Print 2021 Jan. Sci Adv. 2021. PMID: 33523961 Free PMC article.
426 results