|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
|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
|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
|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
|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
|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 (8), 921-939, 2017
|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
|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), 1-8, 2013
|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
|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), 1-16, 2005
|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
|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
|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
|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
|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), 1-12, 2016
|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
|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
|Novel point mutations and mutational complexes in the enhancer II, core promoter and precore regions of hepatitis B virus genotype D1 associated with hepatocellular carcinoma …|
A Khan, MA Al Balwi, Y Tanaka, A Hajeer, FM Sanai, I Al Abdulkarim, ...
International Journal of Cancer 133 (12), 2864-2871, 2013
|Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome|
FK Ababneh, A AlSwaid, T Youssef, M Al Azzawi, A Crosby, MA AlBalwi
American Journal of Medical Genetics Part A 161 (12), 3155-3160, 2013
|HLA‐A,‐B,‐C,‐DRB1 and‐DQB1 allele and haplotype frequencies in Saudis using next generation sequencing technique|
AH Hajeer, MA Al Balwi, F Aytül Uyar, Y Alhaidan, A Alabdulrahman, ...
Tissue Antigens 82 (4), 252-258, 2013