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Page 1
Genetic Insights from Consanguineous Cardiomyopathy Families.
Maurer C, Boleti O, Najarzadeh Torbati P, Norouzi F, Fowler ANR, Minaee S, Salih KH, Taherpour M, Birjandi H, Alizadeh B, Salih AF, Bijari M, Houlden H, Pittman AM, Maroofian R, Almashham YH, Karimiani EG, Kaski JP, Faqeih EA, Vakilian F, Jamshidi Y. Maurer C, et al. Among authors: faqeih ea. Genes (Basel). 2023 Jan 10;14(1):182. doi: 10.3390/genes14010182. Genes (Basel). 2023. PMID: 36672924 Free PMC article.
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: faqeih ea. Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273569 Free PMC article.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. Akizu N, et al. Among authors: faqeih ea. Cell. 2013 Aug 1;154(3):505-17. doi: 10.1016/j.cell.2013.07.005. Cell. 2013. PMID: 23911318 Free PMC article.
Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Hum Genet. 2017. PMID: 28940097 Free article.
141 results