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Page 1
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: boustany rm. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
A 23-year-old man with seizures and visual deficit.
Boustany RM, Britton JW, Parisi JE, Keegan BM. Boustany RM, et al. Neurology. 2008 Jan 1;70(1):73-8. doi: 10.1212/01.wnl.0000298372.36118.1f. Neurology. 2008. PMID: 18166709 No abstract available.
AUTISM IN REVIEW.
Khalifeh S, Yassin W, Kourtian S, Boustany RM. Khalifeh S, et al. Among authors: boustany rm. J Med Liban. 2016 Aug;64(2):110-115. J Med Liban. 2016. PMID: 30452150 Review.
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL. Staropoli JF, et al. Among authors: boustany rm. PLoS One. 2012;7(6):e38310. doi: 10.1371/journal.pone.0038310. Epub 2012 Jun 6. PLoS One. 2012. PMID: 22701626 Free PMC article.
Gene expression profiling of breast cancer in Lebanese women.
Makoukji J, Makhoul NJ, Khalil M, El-Sitt S, Aldin ES, Jabbour M, Boulos F, Gadaleta E, Sangaralingam A, Chelala C, Boustany RM, Tfayli A. Makoukji J, et al. Among authors: boustany rm. Sci Rep. 2016 Nov 18;6:36639. doi: 10.1038/srep36639. Sci Rep. 2016. PMID: 27857161 Free PMC article.
97 results