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Majid Alfadhel
Majid Alfadhel
Head Genetics division, Department of Pediatrics, King Saud bin Abdulaziz University for Health
Verified email at ngha.med.sa
Title
Cited by
Cited by
Year
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ...
Nature genetics 40 (4), 443-448, 2008
4702008
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
4552015
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
D Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ...
European Journal of Human Genetics 25 (2), 176-182, 2017
3622017
Exome sequencing and the management of neurometabolic disorders
M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ...
New England Journal of Medicine 374 (23), 2246-2255, 2016
3142016
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
2662017
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
2302017
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
A Alfares, T Aloraini, A Alissa, A Al Qudsi, A Alahmad, F Al Mutairi, ...
Genetics in Medicine 20 (11), 1328-1333, 2018
1542018
Expanding the genetic heterogeneity of intellectual disability
S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ...
Human genetics 136, 1419-1429, 2017
1532017
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular …
M Alfadhel, M Almuntashri, RH Jadah, FA Bashiri, MT Al Rifai, ...
Orphanet journal of rare diseases 8, 1-8, 2013
1472013
Expanded newborn screening program in Saudi Arabia: incidence of screened disorders
M Alfadhel, A Al Othaim, S Al Saif, F Al Mutairi, M Alsayed, Z Rahbeeni, ...
Journal of paediatrics and child health 53 (6), 585-591, 2017
1242017
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
AM Alazami, SM Al-Qattan, E Faqeih, A Alhashem, M Alshammari, ...
Human genetics 135, 525-540, 2016
1242016
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
ZN Al-Hassnan, M Al-Dosary, M Alfadhel, EA Faqeih, M Alsagob, ...
Journal of medical genetics 52 (3), 186-194, 2015
1162015
Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration
V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ...
The EMBO journal 37 (23), e100540, 2018
1072018
Clinical genetics of polydactyly: an updated review
M Umair, F Ahmad, M Bilal, W Ahmad, M Alfadhel
Frontiers in genetics 9, 447, 2018
1052018
Autozygome and high throughput confirmation of disease genes candidacy
S Maddirevula, F Alzahrani, M Al-Owain, MA Al Muhaizea, HR Kayyali, ...
Genetics in Medicine 21 (3), 736-742, 2019
992019
Carnitine inborn errors of metabolism
M Almannai, M Alfadhel, AW El-Hattab
Molecules 24 (18), 3251, 2019
982019
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
AM Bertoli-Avella, C Beetz, N Ameziane, ME Rocha, P Guatibonza, ...
European Journal of Human Genetics 29 (1), 141-153, 2021
872021
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
A Alfares, M Alfadhel, T Wani, S Alsahli, I Alluhaydan, F Al Mutairi, ...
Molecular genetics and metabolism 121 (2), 91-95, 2017
852017
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
M Alfadhel, M Benmeakel, MA Hossain, F Al Mutairi, A Al Othaim, ...
Orphanet journal of rare diseases 11, 1-12, 2016
842016
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ...
Brain 141 (7), 1934-1945, 2018
812018
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