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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
Shaheen R, Alsahli S, Ewida N, Alzahrani F, Shamseldin HE, Patel N, Al Qahtani A, Alhebbi H, Alhashem A, Al-Sheddi T, Alomar R, Alobeid E, Abouelhoda M, Monies D, Al-Hussaini A, Alzouman MA, Shagrani M, Faqeih E, Alkuraya FS. Shaheen R, et al. Among authors: abouelhoda m. Hepatology. 2020 Jun;71(6):2067-2079. doi: 10.1002/hep.30982. Epub 2020 Feb 20. Hepatology. 2020. PMID: 31595528
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS. Alazami AM, et al. Among authors: abouelhoda m. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31. Cell Rep. 2015. PMID: 25558065 Free article.
Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS. Shaheen R, et al. Among authors: abouelhoda m. Hum Mol Genet. 2015 Sep 15;24(18):5211-8. doi: 10.1093/hmg/ddv242. Epub 2015 Jun 29. Hum Mol Genet. 2015. PMID: 26123494
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Among authors: abouelhoda m. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.
Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.
Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA, Nowailaty SR, Al-Thubaiti G, Naim EA, ALYounes B, Binhumaid FS, ALOtaibi AB, Altamimi AS, Alamer FH, Hashem M, Abouelhoda M, Monies D, Alkuraya FS. Shtir C, et al. Among authors: abouelhoda m. Hum Genet. 2016 Feb;135(2):193-200. doi: 10.1007/s00439-015-1624-8. Epub 2015 Dec 22. Hum Genet. 2016. PMID: 26693933
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE. Sanders AA, et al. Among authors: abouelhoda m. Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z. Genome Biol. 2015. PMID: 26714646 Free PMC article.
97 results