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 | 414 | 2010 |
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 | 398 | 2016 |
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 | 351 | 2018 |
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 | 287 | 2017 |
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 | 270 | 2019 |
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 | 221 | 2012 |
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 | 211 | 2007 |
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 | 172 | 2018 |
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 | 154 | 2013 |
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 | 144 | 2002 |
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 | 109 | 2021 |
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 | 108 | 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, 1-12, 2016 | 95 | 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 | 92 | 2017 |
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 | 90 | 2013 |
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 | 85 | 2014 |
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 | 75 | 2005 |
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 | 64 | 2014 |
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 | 60 | 2019 |
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations Z Wang, A Iida, N Miyake, KM Nishiguchi, K Fujita, T Nakazawa, ... PloS one 11 (3), e0150555, 2016 | 59 | 2016 |