Fowzan S Alkuraya, MD
Fowzan S Alkuraya, MD
Professor of Human Genetics, Alfaisal University and KFSHRC, Riyadh, Saudi Arabia
Verified email at kfshrc.edu.sa
TitleCited byYear
Molecular population genetics and evolution.
M Nei
Molecular population genetics and evolution., 1975
25471975
SUMO1 haploinsufficiency leads to cleft lip and palate
FS Alkuraya, I Saadi, JJ Lund, A Turbe-Doan, CC Morton, RL Maas
Science 313 (5794), 1751-1751, 2006
2232006
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
M Horikoshi, H Yaghootkar, DO Mook-Kanamori, U Sovio, HR Taal, ...
Nature genetics 45 (1), 76, 2013
2132013
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families
AM Alazami, N Patel, HE Shamseldin, S Anazi, MS Al-Dosari, F Alzahrani, ...
Cell reports 10 (2), 148-161, 2015
2102015
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
SM Al-Mayouf, A Sunker, R Abdwani, S Al Abrawi, F Almurshedi, ...
Nature genetics 43 (12), 1186, 2011
1882011
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
A Alangari, A Alsultan, N Adly, MJ Massaad, IS Kiani, A Aljebreen, ...
Journal of Allergy and Clinical Immunology 130 (2), 481-488. e2, 2012
1772012
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
C Rooryck, A Diaz-Font, DPS Osborn, E Chabchoub, ...
Nature genetics 43 (3), 197, 2011
1732011
Human mutations in NDE1 cause extreme microcephaly with lissencephaly
FS Alkuraya, X Cai, C Emery, GH Mochida, MS Al-Dosari, JM Felie, ...
The American Journal of Human Genetics 88 (5), 536-547, 2011
1682011
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
L Abu-Safieh, M Alrashed, S Anazi, H Alkuraya, AO Khan, M Al-Owain, ...
Genome research 23 (2), 236-247, 2013
1662013
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
J Morales, L Al-Sharif, DS Khalil, JMA Shinwari, P Bavi, RA Al-Mahrouqi, ...
The American Journal of Human Genetics 85 (5), 558-568, 2009
1602009
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
JM Elo, SS Yadavalli, L Euro, P Isohanni, A Götz, CJ Carroll, L Valanne, ...
Human molecular genetics 21 (20), 4521-4529, 2012
1382012
Novel CENPJ mutation causes Seckel syndrome
MS Al-Dosari, R Shaheen, D Colak, FS Alkuraya
Journal of medical genetics 47 (6), 411-414, 2010
1362010
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
J Wallmeier, DA Al-Mutairi, CT Chen, NT Loges, P Pennekamp, ...
Nature genetics 46 (6), 646, 2014
1242014
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome
R Shaheen, E Faqeih, A Sunker, H Morsy, T Al-Sheddi, HE Shamseldin, ...
The American Journal of Human Genetics 89 (2), 328-333, 2011
1232011
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
SA Lachke, FS Alkuraya, SC Kneeland, T Ohn, A Aboukhalil, GR Howell, ...
Science 331 (6024), 1571-1576, 2011
1222011
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia
MA Aldahmesh, JY Mohamed, HS Alkuraya, IC Verma, RD Puri, AA Alaiya, ...
The American Journal of Human Genetics 89 (6), 745-750, 2011
1212011
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
R Shaheen, AM Alazami, MJ Alshammari, E Faqeih, N Alhashmi, ...
Journal of medical genetics 49 (10), 630-635, 2012
1122012
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial
NG Ghazi, EB Abboud, SR Nowilaty, H Alkuraya, A Alhommadi, H Cai, ...
Human genetics 135 (3), 327-343, 2016
1112016
Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ...
The American Journal of Human Genetics 93 (6), 1108-1117, 2013
1092013
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
HE Shamseldin, M Alshammari, T Al-Sheddi, MA Salih, H Alkhalidi, ...
Journal of medical genetics 49 (4), 234-241, 2012
1092012
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