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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
4802015
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
SM Al-Mayouf, A Sunker, R Abdwani, SA Abrawi, F Almurshedi, ...
Nature genetics 43 (12), 1186-1188, 2011
4802011
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
4342017
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
3762016
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
3402013
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
3312017
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
3072013
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
D Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ...
Human genetics 136, 921-939, 2017
2852017
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
2852012
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
2832014
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, 327-343, 2016
2772016
Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population
D Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ...
The American Journal of Human Genetics 104 (6), 1182-1201, 2019
2692019
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
2692011
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
2652009
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
2652006
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
2642015
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
2572011
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, ...
Molecular psychiatry 22 (4), 615-624, 2017
2482017
CPAP promotes timely cilium disassembly to maintain neural progenitor pool
E Gabriel, A Wason, A Ramani, LM Gooi, P Keller, A Pozniakovsky, ...
The EMBO journal 35 (8), 803-819, 2016
2372016
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
2222019
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