Published in Hum Genet on November 22, 2016
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Congenital cataracts and their molecular genetics. Semin Cell Dev Biol (2007) 3.76
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The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68
Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet (2012) 1.68
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. Genome Biol (2015) 1.39
Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology (2014) 1.35
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Pharmacological chaperone for α-crystallin partially restores transparency in cataract models. Science (2015) 1.22
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Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. J Biol Chem (2011) 1.10
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Comparative transcriptome analysis of epithelial and fiber cells in newborn mouse lenses with RNA sequencing. Mol Vis (2014) 0.99
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. Mol Vis (2009) 0.98
The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet (2011) 0.96
Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300. Nucleic Acids Res (2013) 0.95
Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development. Mech Dev (2013) 0.93
Steroidal triterpenes of cholesterol synthesis. Molecules (2013) 0.92
Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150. Biochem Biophys Res Commun (2005) 0.92
Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet Med (2011) 0.92
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat (2012) 0.88
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet Med (2015) 0.88
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract. Ophthalmology (2015) 0.85
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. Hum Mutat (2016) 0.84
Discovery of mutations for Mendelian disorders. Hum Genet (2016) 0.82
Ocular genetic disease in the Middle East. Curr Opin Ophthalmol (2013) 0.82
Prox1 and fibroblast growth factor receptors form a novel regulatory loop controlling lens fiber differentiation and gene expression. Development (2015) 0.81
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract. Hum Genet (2015) 0.81
Lessons from hepatocyte-specific Cyp51 knockout mice: impaired cholesterol synthesis leads to oval cell-driven liver injury. Sci Rep (2015) 0.80
Hereditary pediatric cataract on the Arabian Peninsula. Saudi J Ophthalmol (2012) 0.79
Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly. Dev Dyn (2015) 0.79
Long-term results of pediatric cataract surgery after delayed diagnosis. J AAPOS (2012) 0.78
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry (2016) 0.78
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet (2016) 0.78
Systems biology of lens development: A paradigm for disease gene discovery in the eye. Exp Eye Res (2016) 0.77
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am J Hum Genet (2015) 0.76
Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4. Biochem Biophys Res Commun (2008) 0.75
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach. Eye (Lond) (2016) 0.75
An integrative approach to analyze microarray datasets for prioritization of genes relevant to lens biology and disease. Genom Data (2015) 0.75
Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis). Trans Am Ophthalmol Soc (2015) 0.75
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet (2011) 1.31
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. Eur J Hum Genet (2013) 1.21
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. Genome Biol (2015) 1.19
Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis (2009) 1.18
Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet (2009) 1.11
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med (2012) 1.10
Clinical Characterization of LRPAP1-Related Pediatric High Myopia. Ophthalmology (2015) 0.99
TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol (2015) 0.96
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet (2011) 0.94
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial. Hum Genet (2016) 0.94
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol (2015) 0.89
Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci (2009) 0.89
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat (2012) 0.88
Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles. Gut (2014) 0.88
Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med (2012) 0.87
A novel APC mutation defines a second locus for Cenani-Lenz syndrome. J Med Genet (2015) 0.86
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genet Med (2015) 0.84
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum Mutat (2013) 0.83
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Hum Genet (2016) 0.82
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus. J Med Genet (2015) 0.80
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. Genet Med (2016) 0.80
Characterizing the morbid genome of ciliopathies. Genome Biol (2016) 0.80
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). Hum Mol Genet (2014) 0.79
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Genet Med (2016) 0.78
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet (2016) 0.78
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genet Med (2017) 0.78
Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation? Am J Med Genet A (2014) 0.78
A null mutation in TNIK defines a novel locus for intellectual disability. Hum Genet (2016) 0.76
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. Hum Genet (2016) 0.76
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet (2015) 0.76
ADAT3-related intellectual disability: Further delineation of the phenotype. Am J Med Genet A (2016) 0.76
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet (2017) 0.75
Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy. Hum Genet (2015) 0.75
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? Eur J Hum Genet (2016) 0.75
Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat (2017) 0.75
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Hum Genet (2016) 0.75
Expanding the genetic heterogeneity of intellectual disability. Hum Genet (2017) 0.75
A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder. Brain (2017) 0.75
Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity. Gut (2016) 0.75
Transcriptome analysis of developing lens reveals abundance of novel transcripts and extensive splicing alterations. Sci Rep (2017) 0.75
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation. Genome Biol (2017) 0.75
Novel copy number variants and major limb reduction malformation: Report of three cases. Am J Med Genet A (2016) 0.75
Joint laxity in homozygotes for severe POU1F1 mutations. Am J Med Genet A (2016) 0.75
Molecular autopsy in maternal-fetal medicine. Genet Med (2017) 0.75
ANKS3 is mutated in a family with autosomal recessive laterality defect. Hum Genet (2016) 0.75
GWAS signals revisited using human knockouts. Genet Med (2017) 0.75
Confirming the candidacy of THOC6 in the etiology of intellectual disability. Am J Med Genet A (2016) 0.75
Crisponi/CISS1 syndrome: A case series. Am J Med Genet A (2016) 0.75
A lethal phenotype associated with tissue plasminogen deficiency in humans. Hum Genet (2016) 0.75
Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas. J AAPOS (2016) 0.75