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
Title
Cited by
Cited by
Year
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
2912015
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), 76-82, 2013
2692013
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), 1186-1188, 2011
2602011
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
2402006
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
2192012
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
2172013
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), 197-203, 2011
1982011
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
1952011
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071-1076, 2016
1872016
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
1872009
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
1772017
International cooperation to enable the diagnosis of all rare genetic diseases
KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...
The American Journal of Human Genetics 100 (5), 695-705, 2017
1742017
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), 646-651, 2014
1692014
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
1662016
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
1642012
Novel CENPJ mutation causes Seckel syndrome
MS Al-Dosari, R Shaheen, D Colak, FS Alkuraya
Journal of medical genetics 47 (6), 411-414, 2010
1592010
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
1582011
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
1522012
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
1472011
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
1432015
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