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Page 1
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Among authors: almutairi fb. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N. Alfadhel M, et al. Among authors: almutairi fb. Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16. Eur J Paediatr Neurol. 2018. PMID: 29122497
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies D, Mustafa OM, Alyounes B, Kenana R, Al-Zahrani J, Naim E, Binhumaid FS, Qari A, Almutairi F, Meyer B, Plageman TF, Pessia M, Colak D, Al-Owain M. Kaya N, et al. Among authors: almutairi fb. J Med Genet. 2016 Nov;53(11):786-792. doi: 10.1136/jmedgenet-2015-103637. Epub 2016 Aug 31. J Med Genet. 2016. PMID: 27582084
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Al-Hassnan ZN, Albawardi W, Almutairi F, AlMass R, AlBakheet A, Mustafa OM, AlQuait L, Shinwari ZMA, Wakil S, Salih MA, Al-Fayyadh M, Hassan SM, Aljoufan M, Al-Nakhli O, Levy B, AlMaarik B, Al-Hakami HA, Alsagob M, Colak D, Kaya N. Al-Hassnan ZN, et al. Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018. Mol Cytogenet. 2018. PMID: 29416564 Free PMC article.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Sanderson LE, et al. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. Brain. 2021. PMID: 33764426 Free PMC article.
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Among authors: almutairi fb. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.