Folgen
Majid Alfadhel
Majid Alfadhel
Head Genetics division, Department of Pediatrics, King Saud bin Abdulaziz University for Health
Bestätigte E-Mail-Adresse bei ngha.med.sa
Titel
Zitiert von
Zitiert von
Jahr
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
4682008
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
4502015
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
3612017
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
3122016
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
2592017
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
2222017
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
1502017
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
1492018
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
1452013
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
1232016
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
1172017
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
1152015
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
1042018
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
972019
Carnitine inborn errors of metabolism
M Almannai, M Alfadhel, AW El-Hattab
Molecules 24 (18), 3251, 2019
932019
Clinical genetics of polydactyly: an updated review
M Umair, F Ahmad, M Bilal, W Ahmad, M Alfadhel
Frontiers in genetics 9, 447, 2018
932018
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
842017
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
812016
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
782021
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
742018
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20