PubRank

Mohammed Al-Owain

Author PubWeight™ 27.38‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 2010 3.98
2 Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet 2011 1.57
3 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res 2012 1.47
4 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2012 1.31
5 Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet 2012 1.18
6 FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? Am J Hum Genet 2010 1.10
7 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med 2012 1.10
8 Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A 2011 1.04
9 A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis 2010 0.98
10 New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS One 2013 0.98
11 Propionic acidemia associated with visual hallucinations. J Child Neurol 2011 0.89
12 Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family. Gene 2013 0.88
13 A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. J Med Genet 2012 0.87
14 Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. Mol Genet Metab 2011 0.86
15 Mutation in MPDZ causes severe congenital hydrocephalus. J Med Genet 2013 0.85
16 Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. Am J Med Genet B Neuropsychiatr Genet 2011 0.85
17 Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. Eur J Pediatr 2009 0.83
18 Autism spectrum disorders and inborn errors of metabolism: an update. Pediatr Neurol 2013 0.81
19 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. J Child Neurol 2009 0.80
20 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. Am J Med Genet A 2014 0.80
21 Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. J Inherit Metab Dis 2010 0.80
22 A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population. BMC Med Genet 2011 0.80
23 USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis. Mol Vis 2012 0.78
24 Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. Clin Dysmorphol 2013 0.77
25 Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. Eur J Pediatr 2013 0.76
26 Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. J Child Neurol 2007 0.76
27 Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. J Pediatr Hematol Oncol 2017 0.75
28 Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med 2014 0.75
29 Index of suspicion. Case 1: Lymphadenopathy, prolonged hematuria, proteinuria, and weight loss in a teenage boy. Case 2: Red, Swollen, painful eye in a 12-year-old boy with methylmalonic acidemia. Case 3: Ptosis and diplopia after a respiratory infection in a 7-year-old girl. Pediatr Rev 2012 0.75
30 Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. Eur J Pediatr 2010 0.75