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Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Among authors: alhashem am. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404
Smith-Lemli-Opitz syndrome among Arabs.
Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY. Al-Owain M, et al. Clin Genet. 2012 Aug;82(2):165-72. doi: 10.1111/j.1399-0004.2011.01742.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21696385
The fragile site WWOX gene and the developing brain.
Tabarki B, Al Mutairi F, Al Hashem A. Tabarki B, et al. Exp Biol Med (Maywood). 2015 Mar;240(3):400-2. doi: 10.1177/1535370214561952. Epub 2014 Nov 21. Exp Biol Med (Maywood). 2015. PMID: 25416187 Free PMC article. Review.
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. 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 and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Among authors: alhashem a. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: alhashem a. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
120 results