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Prof. Mohammed Al Balwi
Prof. Mohammed Al Balwi
King Saud bin Abdulaziz University for Health Sciences
Verified email at ngha.med.sa
Title
Cited by
Cited by
Year
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
HE Christiansen, U Schwarze, SM Pyott, A AlSwaid, M Al Balwi, ...
The American Journal of Human Genetics 86 (3), 389-398, 2010
3962010
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
D Trujillano, AM Bertoli-Avella, KK Kandaswamy, MER Weiss, J Köster, ...
European Journal of Human Genetics, 2016
3592016
Histopathology of Middle East respiratory syndrome coronovirus (MERS‐CoV) infection–clinicopathological and ultrastructural study
KO Alsaad, AH Hajeer, M Al Balwi, M Al Moaiqel, N Al Oudah, A Al Ajlan, ...
Histopathology 72 (3), 516-524, 2018
3342018
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
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
2362019
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ...
The American Journal of Human Genetics 91 (6), 1051-1064, 2012
2142012
The genetic basis of a craniofacial disease provides insight into COPII coat assembly
JC Fromme, M Ravazzola, S Hamamoto, M Al-Balwi, W Eyaid, ...
Developmental cell 13 (5), 623-634, 2007
2082007
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
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome
RC Gallagher, B Pils, M Albalwi, U Francke
The American Journal of Human Genetics 71 (3), 669-678, 2002
1412002
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
JJ Reynolds, LS Bicknell, P Carroll, MR Higgs, R Shaheen, JE Murray, ...
Nature genetics 49 (4), 537-549, 2017
912017
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
832017
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
EA Webb, A AlMutair, D Kelberman, C Bacchelli, E Chanudet, F Lescai, ...
Brain 136 (10), 3096-3105, 2013
832013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
J Uusimaa, J Evans, C Smith, A Butterworth, K Craig, N Ashley, C Liao, ...
European Journal of Human Genetics 22 (2), 184-191, 2014
822014
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
Molecular breakpoint cloning and gene expression studies of a novel translocation t (4; 15)(q27; q11. 2) associated with Prader-Willi syndrome
B Schüle, M Albalwi, E Northrop, DI Francis, M Rowell, HR Slater, ...
BMC medical genetics 6, 1-16, 2005
772005
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure
A Al-Hussaini, E Faqeih, AW El-Hattab, M Alfadhel, A Asery, B Alsaleem, ...
The Journal of pediatrics 164 (3), 553-559. e2, 2014
552014
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
M Alfadhel, M Umair, B Almuzzaini, S Alsaif, SA AlMohaimeed, ...
Annals of clinical and translational neurology 6 (10), 2097-2103, 2019
512019
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and …
J Zhang, T Gambin, B Yuan, P Szafranski, JA Rosenfeld, MA Balwi, ...
Human genetics 136, 377-386, 2017
512017
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