Published in J Child Neurol on December 07, 2011
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations. Mol Genet Metab Rep (2014) 0.75
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
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. Genome Res (2007) 2.27
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet (2009) 2.14
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet (2011) 1.57
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat (2010) 1.54
Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest Ophthalmol Vis Sci (2009) 1.52
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res (2012) 1.47
Psychopharmacology of autism spectrum disorders: a selective review. Autism (2012) 1.45
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet (2012) 1.18
Autism in Saudi Arabia: presentation, clinical correlates and comorbidity. Transcult Psychiatry (2009) 1.12
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? Am J Hum Genet (2010) 1.10
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med (2012) 1.10
Age-severity relationships in families linked to FCD2 with retroillumination photography. Invest Ophthalmol Vis Sci (2010) 1.09
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet (2008) 1.05
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A (2011) 1.04
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis (2010) 0.98
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS One (2013) 0.98
Violent crime in Asperger syndrome: the role of psychiatric comorbidity. J Autism Dev Disord (2008) 0.96
A novel KERA mutation associated with autosomal recessive cornea plana. Ophthalmic Genet (2004) 0.94
ECT treatment of malignant catatonia/NMS in an adolescent: a useful lesson in delayed diagnosis and treatment. J ECT (2002) 0.93
Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family. Gene (2013) 0.88
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. J Med Genet (2012) 0.87
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. Mol Genet Metab (2011) 0.86
Asperger disorder in the DSM-V: sacrificing utility for validity. J Am Acad Child Adolesc Psychiatry (2011) 0.86
Mutation in MPDZ causes severe congenital hydrocephalus. J Med Genet (2013) 0.85
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
Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study. Hum Hered (2014) 0.85
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. Eur J Pediatr (2009) 0.83
DSM-5 ASD moves forward into the past. J Autism Dev Disord (2014) 0.83
Autism spectrum disorders: clinical features and diagnosis. Pediatr Clin North Am (2012) 0.82
Autism spectrum disorders and inborn errors of metabolism: an update. Pediatr Neurol (2013) 0.81
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. J Child Neurol (2009) 0.80
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. Am J Med Genet A (2014) 0.80
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population. BMC Med Genet (2011) 0.80
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. J Inherit Metab Dis (2010) 0.80
Onset of catatonia at puberty: electroconvulsive therapy response in two autistic adolescents. J ECT (2010) 0.80
Asperger syndrome: tests of right hemisphere functioning and interhemispheric communication. J Autism Dev Disord (2002) 0.80
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis. Mol Vis (2012) 0.78
G6PD deficiency in autism: a case-series from Saudi Arabia. Eur Child Adolesc Psychiatry (2008) 0.77
EEG abnormalities in West syndrome: correlation with the emergence of autistic features. Brain Dev (2006) 0.77
A novel missense Norrie disease mutation associated with a severe ocular phenotype. J Pediatr Ophthalmol Strabismus (2004) 0.77
Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. Clin Dysmorphol (2013) 0.77
Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. J Child Neurol (2007) 0.76
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. Eur J Pediatr (2013) 0.76
Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder. Psychiatr Genet (2017) 0.75
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med (2014) 0.75
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. Eur J Pediatr (2010) 0.75
Early Intervention for Children With Autism Spectrum Disorder in Low-Resource Countries. J Am Psychiatr Nurses Assoc (2017) 0.75
Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. J Pediatr Hematol Oncol (2017) 0.75