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Page 1
Further delineation of HIDEA syndrome.
Maddirevula S, Ben-Omran T, AlMureikhi M, Eyaid W, Arabi H, Alkuraya H, Alfaifi A, Alfalah AH, Alsaif HS, Abdulwahab F, Alfadhel M, Alkuraya FS. Maddirevula S, et al. Among authors: alfaifi a. Am J Med Genet A. 2020 Dec;182(12):2999-3006. doi: 10.1002/ajmg.a.61885. Epub 2020 Sep 23. Am J Med Genet A. 2020. PMID: 32965080
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, Hashmi… See abstract for full author list ➔ Monies D, et al. Among authors: alfaifi a. 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.
The morbid genome of ciliopathies: an update.
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Alghamdi JM, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Seidahmed MZ, Alkuraya FS. Shamseldin HE, et al. Among authors: alfaifi ay. Genet Med. 2020 Jun;22(6):1051-1060. doi: 10.1038/s41436-020-0761-1. Epub 2020 Feb 14. Genet Med. 2020. PMID: 32055034 Free article.
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya FS, Houlden H, Maroofian R, Silver DL. Scala M, et al. Among authors: alfaifi a. Eur J Hum Genet. 2020 Nov;28(11):1509-1519. doi: 10.1038/s41431-020-0669-x. Epub 2020 Jun 22. Eur J Hum Genet. 2020. PMID: 32572202 Free PMC article.
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, Alsahli S, Aldhalaan H, Alkuraya FS, Hundallah K, Mahmoud A, Alasmari A, Mutairi FA, Abduraouf H, AlRasheed L, Alshahwan S, Tabarki B. Alsubhi S, et al. Among authors: alfaifi a. Am J Med Genet A. 2017 Oct;173(10):2614-2621. doi: 10.1002/ajmg.a.38358. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742265
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG. Burns DT, et al. Among authors: alfaifi ay. Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011. Am J Hum Genet. 2018. PMID: 29727687 Free PMC article.
99 results