{"id":2,"date":"2017-08-10T18:48:21","date_gmt":"2017-08-10T18:48:21","guid":{"rendered":"http:\/\/labs.icahn.mssm.edu\/webblab\/?page_id=2"},"modified":"2018-04-08T22:34:41","modified_gmt":"2018-04-08T22:34:41","slug":"publications","status":"publish","type":"page","link":"https:\/\/labs.icahn.mssm.edu\/webblab\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"<p><strong>Recent Publications<\/strong><\/p>\n<p>1: Bruni F, Di Meo I, Bellacchio E, <strong>Webb BD<\/strong>, McFarland R, Chrzanowska-Lightowlers\u00a0ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P,\u00a0Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D. Clinical, biochemical, and genetic features associated with\u00a0VARS2-related mitochondrial disease. Hum Mutat. 2018 Apr;39(4):563-578.<\/p>\n<p>2: Lake NJ*, <strong>Webb BD<\/strong>*, Stroud DA*, Richman TR*, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Bodaert N, Assouline Z, Sherpa MD, Schadt EE,\u00a0Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z,\u00a0Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, R\u00f6tig A, Filipovska A,\u00a0Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Biallelic Mutations in MRPS34 Lead\u00a0to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum\u00a0Genet. 2017 Aug 3;101(2):239-254. (*=co-first author)<\/p>\n<p>3: Telegrafi A*, <strong>Webb BD<\/strong>*, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L,\u00a0Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Identification of STAC3 variants in non-Native American\u00a0families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius\u00a0syndrome. Am J Med Genet A. 2017 Oct;173(10):2763-2771. (*=co-first author)<\/p>\n<p>4: Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni\u00a0P, de Macena Sobreira NL, Chan WM, <strong>Webb BD<\/strong>, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR,\u00a0Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS,\u00a0Speck-Martins CE, Collins FS, Jabs EW, B\u00f6nnemann CG, Olson EN; Moebius Syndrome\u00a0Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 Jul\u00a06;8:16077.<\/p>\n<p>5: <strong>Webb BD<\/strong>, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE.\u00a0Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. Hum Mutat. 2017 Apr;38(4):373-377.<\/p>\n<p>6: Fedick AM, Jalas C, Swaroop A, Smouha EE, <strong>Webb BD<\/strong>. Identification of a novel\u00a0pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population. Appl Clin Genet. 2016 Aug\u00a031;9:141-6.<\/p>\n<p>7: <strong>Webb BD<\/strong>, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP,\u00a0Rodenburg RJ, Houten SM, Schadt EE. Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat. 2015 Jun;36(6):587-92.<\/p>\n<p><span style=\"font-family: Arial\"><span style=\"color: #000000\"><strong><u>Complete Listing of Published Work:<\/u><\/strong><br \/>\n<\/span> <\/span><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/myncbi\/bryn.webb.1\/bibliography\/48321706\/public\/?sort=date&amp;direction=ascending\">http:\/\/www.ncbi.nlm.nih.gov\/myncbi\/bryn.webb.1\/bibliography\/48321706\/public\/?sort=date&amp;direction=ascending<\/a><\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Recent Publications 1: Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers\u00a0ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P,\u00a0Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D. Clinical, biochemical, and genetic features associated with\u00a0VARS2-related mitochondrial disease. [&hellip;]<\/p>\n","protected":false},"author":146,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"open","template":"full-width.php","meta":{"footnotes":""},"class_list":["post-2","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/pages\/2","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/users\/146"}],"replies":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/comments?post=2"}],"version-history":[{"count":9,"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/pages\/2\/revisions"}],"predecessor-version":[{"id":47,"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/pages\/2\/revisions\/47"}],"wp:attachment":[{"href":"https:\/\/labs.icahn.mssm.edu\/webblab\/wp-json\/wp\/v2\/media?parent=2"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}