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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: alsagob m. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N. Al-Hassnan ZN, et al. Among authors: alsagob m. J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24. J Med Genet. 2015. PMID: 25539947
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: alsagob m. 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
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: alsagob m. 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
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS. Alrakaf L, et al. Among authors: alsagob m. Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383837
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. Among authors: alsagob m. Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018. Mol Cytogenet. 2018. PMID: 29416564 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: alsagob m. 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.
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