Fowzan S Alkuraya, MD

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Arif O KhanProfessor of Ophthalmology, Cleveland Clinic Abu DhabiDirección de correo verificada de mssm.edu
Eissa Ali Faqeih, MDSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical CityDirección de correo verificada de kfmc.med.sa
Anas M AlazamiKing Faisal Specialist Hospital & Research CentreDirección de correo verificada de kfshrc.edu.sa
Dilek Colak,PhDSenior Scientist, KFSHRCDirección de correo verificada de kfshrc.edu.sa
Tariq Ahmad Masoodi, PhDSidra MedicineDirección de correo verificada de sidra.org
Christopher A WalshBoston Children's HospitalDirección de correo verificada de childrens.harvard.edu
Namik KayaKing Faisal Specialist Hospital and Research CenterDirección de correo verificada de kfshrc.edu.sa
Salma Majid WakilScientist, National Institute of HealthDirección de correo verificada de nih.gov
Prashant BaviUniversity Of CalgaryDirección de correo verificada de ucalgary.ca
Irfan SaadiUniversity of Kansas Medical CenterDirección de correo verificada de kumc.edu
Abdulrahman AlsultanProfessor, King Saud UniversityDirección de correo verificada de ksu.edu.sa
lihadh al-gazaliProfessor in Clinical Genetics & PaediatricsDirección de correo verificada de uaeu.ac.ae
Nada AL TASSANSenior Scientist, King Faisal Specialist Hospital and Research CenterDirección de correo verificada de kfshrc.edu.sa
Kailash BhatiaProfessor of Clinical Neurology, Institute of Neurology, UCL, Queen Square, London WC1N 3BG,Dirección de correo verificada de ucl.ac.uk
Abdullah A. AlangariProfessor of Pediatrics, King Saud UniversityDirección de correo verificada de ksu.edu.sa
Salil LachkeProfessor and Associate Chair of Biological Sciences, University of DelawareDirección de correo verificada de udel.edu
A Micheil InnesUniversity of CalgaryDirección de correo verificada de albertahealthservices.ca
Hanif KhalakG42 Healthcare

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Fowzan S Alkuraya, MD

Professor of Human Genetics, Alfaisal University and KFSHRC, Riyadh, Saudi Arabia

Dirección de correo verificada de kfshrc.edu.sa

Medical Genetics Human Genetics


Título Ordenar por citas Ordenar por año Ordenar por título	Citado por Citado por	Año
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	450	2015
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	428	2011
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	380	2017
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	342	2016
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	323	2013
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	310	2017
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	290	2013
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	278	2012
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	265	2011
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	263	2006
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	258	2017
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	258	2014
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	257	2016
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	251	2011
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	249	2009
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	246	2015
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	238	2019
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	224	2016
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	222	2017
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	206	2011

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