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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P. Bertoli-Avella A, et al. Among authors: alghamdi ma. J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24. J Med Genet. 2022. PMID: 34952832 Free PMC article.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S,… See abstract for full author list ➔ Monies D, et al. Among authors: alghamdi m, alghamdi h. Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130284 Free PMC article.
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.
Alghamdi MA, Mulla J, Saheb Sharif-Askari N, Guzmán-Vega FJ, Arold ST, Abd-Alwahed M, Alharbi N, Kashour T, Halwani R. Alghamdi MA, et al. Front Immunol. 2021 Jan 8;11:599564. doi: 10.3389/fimmu.2020.599564. eCollection 2020. Front Immunol. 2021. PMID: 33488593 Free PMC article.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: alghamdi ma. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Alfadhel M, Almuqbil M, Al Mutairi F, Umair M, Almannai M, Alghamdi M, Althiyab H, Albarakati R, Bashiri FA, Alshuaibi W, Ba-Armah D, Saleh MA, Al-Asmari A, Faqeih E, Altuwaijri W, Al-Rumayyan A, Balwi MA, Ababneh F, Alswaid AF, Eyaid WM, Almontashiri NAM, Alhashem A, Hundallah K, Bertoli-Avella A, Bauer P, Beetz C, Alrifai MT, Alfares A, Tabarki B. Alfadhel M, et al. Among authors: alghamdi m. Front Pediatr. 2021 May 13;9:633385. doi: 10.3389/fped.2021.633385. eCollection 2021. Front Pediatr. 2021. PMID: 34055681 Free PMC article.
291 results