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Page 1
Homozygous mutation in ELMO2 may cause Ramon syndrome.
Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A. Mehawej C, et al. Among authors: farah ra. Clin Genet. 2018 Mar;93(3):703-706. doi: 10.1111/cge.13166. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29095483
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P, Sabbagh S, Mansour H, Fawaz A, Hmaimess G, Noun P, Dagher R, Megarbane H, Hana S, Alame S, Lamaa M, Hasbini D, Farah R, Rajab M, Stora S, El-Tourjuman O, Abou Jaoude P, Chalouhi G, Sayad R, Gillart AC, Al-Ali M, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1041-1052. doi: 10.1002/mgg3.480. Epub 2018 Oct 7. Mol Genet Genomic Med. 2018. PMID: 30293248 Free PMC article.
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D, Wedge D, Van Loo P, Tarpey PS, Coupland P, Behjati S, Pollett A, Lipman T, Heidari A, Deshmukh S, Avitzur N, Meier B, Gerstung M, Hong Y, Merino DM, Ramakrishna M, Remke M, Arnold R, Panigrahi GB, Thakkar NP, Hodel KP, Henninger EE, Göksenin AY, Bakry D, Charames GS, Druker H, Lerner-Ellis J, Mistry M, Dvir R, Grant R, Elhasid R, Farah R, Taylor GP, Nathan PC, Alexander S, Ben-Shachar S, Ling SC, Gallinger S, Constantini S, Dirks P, Huang A, Scherer SW, Grundy RG, Durno C, Aronson M, Gartner A, Meyn MS, Taylor MD, Pursell ZF, Pearson CE, Malkin D, Futreal PA, Stratton MR, Bouffet E, Hawkins C, Campbell PJ, Tabori U; Biallelic Mismatch Repair Deficiency Consortium. Shlien A, et al. Nat Genet. 2015 Mar;47(3):257-62. doi: 10.1038/ng.3202. Epub 2015 Feb 2. Nat Genet. 2015. PMID: 25642631
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD. Riley LG, et al. Haematologica. 2018 Dec;103(12):2008-2015. doi: 10.3324/haematol.2017.182659. Epub 2018 Jul 19. Haematologica. 2018. PMID: 30026338 Free PMC article.
Establishment of a formal program for retinoblastoma: Feasibility of clinical coordination across borders and impact on outcome.
Al-Haddad C, Bashour Z, Farah L, Bayram L, Merabe Z, Ma'luf R, Alameddine R, Eid T, Geara F, Wilson M, Brennan R, Jeha S, Ghanem K, Yousef RA, Farah R, Noun P, Yassine N, Inati A, Muwakkit S, Abboud M, Tarek N, Hamideh D, Saab R. Al-Haddad C, et al. Among authors: farah r, farah l. Pediatr Blood Cancer. 2019 Nov;66(11):e27959. doi: 10.1002/pbc.27959. Epub 2019 Aug 18. Pediatr Blood Cancer. 2019. PMID: 31423715
61 results