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Page 1
Mirror movements identified in patients with moebius syndrome.
Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW, Rucker JC. Webb BD, et al. Tremor Other Hyperkinet Mov (N Y). 2014 Jul 22;4:256. doi: 10.7916/D83F4MR8. eCollection 2014. Tremor Other Hyperkinet Mov (N Y). 2014. PMID: 25120946 Free PMC article.
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Among authors: webb bd. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
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: webb bd. 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.
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D. Bruni F, et al. Among authors: webb bd. Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7. Hum Mutat. 2018. PMID: 29314548 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: webb bd. 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.
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