Fowzan S Alkuraya, MD

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Finansman sağlayan kuruluşun getirdiği zorunluluğa dayalı olarak

Katkıda bulunan yazarlar

Arif O KhanProfessor of Ophthalmology, Cleveland Clinic Abu Dhabimssm.edu üzerinde doğrulanmış e-posta adresine sahip
Eissa Ali Faqeih, MDSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical Citykfmc.med.sa üzerinde doğrulanmış e-posta adresine sahip
Anas M AlazamiKing Faisal Specialist Hospital & Research Centrekfshrc.edu.sa üzerinde doğrulanmış e-posta adresine sahip
Dilek Colak,PhDSenior Scientist, KFSHRCkfshrc.edu.sa üzerinde doğrulanmış e-posta adresine sahip
Tariq Ahmad Masoodi, PhDSidra Medicinesidra.org üzerinde doğrulanmış e-posta adresine sahip
Christopher A WalshBoston Children's Hospitalchildrens.harvard.edu üzerinde doğrulanmış e-posta adresine sahip
Namik KayaKing Faisal Specialist Hospital and Research Centerkfshrc.edu.sa üzerinde doğrulanmış e-posta adresine sahip
Salma Majid WakilScientist, National Institute of Healthnih.gov üzerinde doğrulanmış e-posta adresine sahip
Prashant BaviUniversity Of Calgaryucalgary.ca üzerinde doğrulanmış e-posta adresine sahip
Irfan SaadiUniversity of Kansas Medical Centerkumc.edu üzerinde doğrulanmış e-posta adresine sahip
Abdulrahman AlsultanProfessor, King Saud Universityksu.edu.sa üzerinde doğrulanmış e-posta adresine sahip
lihadh al-gazaliProfessor in Clinical Genetics & Paediatricsuaeu.ac.ae üzerinde doğrulanmış e-posta adresine sahip
Nada AL TASSANSenior Scientist, King Faisal Specialist Hospital and Research Centerkfshrc.edu.sa üzerinde doğrulanmış e-posta adresine sahip
Kailash BhatiaProfessor of Clinical Neurology, Institute of Neurology, UCL, Queen Square, London WC1N 3BG,ucl.ac.uk üzerinde doğrulanmış e-posta adresine sahip
Abdullah A. AlangariProfessor of Pediatrics, King Saud Universityksu.edu.sa üzerinde doğrulanmış e-posta adresine sahip
Salil LachkeProfessor and Associate Chair of Biological Sciences, University of Delawareudel.edu üzerinde doğrulanmış e-posta adresine sahip
A Micheil InnesUniversity of Calgaryalbertahealthservices.ca üzerinde doğrulanmış e-posta adresine sahip
Hanif KhalakG42 Healthcare

Takip et

Fowzan S Alkuraya, MD

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

kfshrc.edu.sa üzerinde doğrulanmış e-posta adresine sahip

Medical Genetics Human Genetics


Başlık Alıntılara göre sırala Yıla göre sırala Başlığa göre sırala	Alıntı yapanlar Alıntı yapanlar	Yıl
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	449	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	427	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	343	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	322	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	306	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	289	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	277	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	264	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	262	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	259	2017
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	256	2016
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	255	2014
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	248	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	245	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	236	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	219	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

Sistem, işlemi şu anda gerçekleştiremiyor. Daha sonra yeniden deneyin.

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