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Genomic analysis of inherited hearing loss in the Palestinian population.
Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, King MC, Kanaan MN. Abu Rayyan A, et al. Among authors: rabie g. Proc Natl Acad Sci U S A. 2020 Aug 18;117(33):20070-20076. doi: 10.1073/pnas.2009628117. Epub 2020 Aug 3. Proc Natl Acad Sci U S A. 2020. PMID: 32747562 Free PMC article.
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Kamal L, Pierce SB, Canavati C, Rayyan AA, Jaraysa T, Lobel O, Lolas S, Norquist BM, Rabie G, Zahdeh F, Levy-Lahad E, King MC, Kanaan MN. Kamal L, et al. Among authors: rabie g. Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):a005652. doi: 10.1101/mcs.a005652. Print 2020 Oct. Cold Spring Harb Mol Case Stud. 2020. PMID: 33028645 Free PMC article.
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
Canavati C, Sherill-Rofe D, Kamal L, Bloch I, Zahdeh F, Sharon E, Terespolsky B, Allan IA, Rabie G, Kawas M, Kassem H, Avraham KB, Renbaum P, Levy-Lahad E, Kanaan M, Tabach Y. Canavati C, et al. Among authors: rabie g. Genome Med. 2024 Jan 4;16(1):4. doi: 10.1186/s13073-023-01276-2. Genome Med. 2024. PMID: 38178268 Free PMC article.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Among authors: rabie g. Hum Genet. 2024 Apr 30. doi: 10.1007/s00439-024-02648-3. Online ahead of print. Hum Genet. 2024. PMID: 38691166
The supervisor conundrum.
Knight KH, Leigh J, Whaley V, Rabie G, Matthews M, Doyle K. Knight KH, et al. Among authors: rabie g. Br J Nurs. 2021 Nov 11;30(20):1156. doi: 10.12968/bjon.2021.30.20.1156. Br J Nurs. 2021. PMID: 34761984 No abstract available.
27 results