SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.

Genetics and genomic medicine in Saudi Arabia. Mol Genet Genomic Med (2014) 1.10

Discovery of mutations for Mendelian disorders. Hum Genet (2016) 0.82

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. Neurol Genet (2016) 0.80

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. Neurogenetics (2016) 0.75

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology (2013) 1.72

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science (2011) 2.78

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol (2011) 2.51

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet (2013) 2.12

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet (2011) 2.02

Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet (2003) 2.00

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet (2009) 1.73

Novel CENPJ mutation causes Seckel syndrome. J Med Genet (2010) 1.61

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet (2013) 1.61

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet (2011) 1.58

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet (2011) 1.57

A novel X-linked disorder with developmental delay and autistic features. Ann Neurol (2011) 1.54

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res (2012) 1.47

A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol (2013) 1.46

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet (2012) 1.45

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 1.43

Neurobrucellosis: clinical and neuroimaging correlation. AJNR Am J Neuroradiol (2004) 1.43

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. Am J Med Genet A (2011) 1.42

Clinical characterisation of the CABP4-related retinal phenotype. Br J Ophthalmol (2012) 1.41

Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene (2012) 1.41

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis (2010) 1.41

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet (2009) 1.41

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet (2011) 1.31

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A (2009) 1.28

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat (2011) 1.28

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol (2012) 1.26

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet (2011) 1.26

Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res (2014) 1.22

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet (2013) 1.20

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet (2012) 1.18

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet (2013) 1.18

The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol (2012) 1.18

Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis (2009) 1.18

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet (2012) 1.16

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics (2011) 1.15

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet (2012) 1.13

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet (2012) 1.13

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet (2013) 1.12

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet (2012) 1.11

Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet (2009) 1.11

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

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis (2013) 1.09

Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat (2012) 1.09

Autozygosity mapping with exome sequence data. Hum Mutat (2012) 1.08

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin Genet (2011) 1.08

In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet (2012) 1.06

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat (2012) 1.06

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet (2002) 1.05

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet (2008) 1.05

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest (2015) 1.05

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A (2011) 1.04

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis (2009) 1.03

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis (2011) 1.03

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet (2015) 1.03

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat (2011) 1.02

The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord (2013) 1.01

Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. Am J Med Genet A (2007) 1.00

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature. J Pediatr (2012) 1.00

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype. J Med Genet (2013) 1.00

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis (2010) 0.98

Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats. Invest Ophthalmol Vis Sci (2012) 0.98

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet (2013) 0.97

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. Arch Ophthalmol (2011) 0.97

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet (2011) 0.96

Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa. Hum Gene Ther Clin Dev (2013) 0.96

Diagnosis and management of Neuro-Behçet's disease: international consensus recommendations. J Neurol (2013) 0.96

Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet (2013) 0.96

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet (2011) 0.94

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. Eur J Med Genet (2012) 0.93

Mutation of CANT1 causes Desbuquois dysplasia. Am J Med Genet A (2010) 0.93

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity. Genet Med (2012) 0.93

A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. Eur J Med Genet (2011) 0.93

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum Mutat (2013) 0.92

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. Am J Ophthalmol (2012) 0.92

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet Med (2011) 0.92

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet (2013) 0.92

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. Am J Med Genet A (2011) 0.91

Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS. Ophthalmic Genet (2005) 0.91

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol (2010) 0.91

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. Am J Med Genet A (2009) 0.91

Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia. Genet Med (2012) 0.90

Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma. Exp Eye Res (2010) 0.90

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci (2009) 0.89

Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. J Pediatr Gastroenterol Nutr (2009) 0.89

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. Br J Ophthalmol (2012) 0.89

A novel syndrome of lethal familial hyperekplexia associated with brain malformation. BMC Neurol (2012) 0.88