Published in Mol Vis on February 10, 2010
Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. Channels (Austin) (2013) 1.33
Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). J Biol Chem (2012) 0.97
Evolution and functional diversity of the Calcium Binding Proteins (CaBPs). Front Mol Neurosci (2012) 0.90
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet (2014) 0.88
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. Invest Ophthalmol Vis Sci (2012) 0.83
EF hand-mediated Ca- and cGMP-signaling in photoreceptor synaptic terminals. Front Mol Neurosci (2012) 0.82
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat (2013) 0.81
Protein phosphatase 2A dephosphorylates CaBP4 and regulates CaBP4 function. Invest Ophthalmol Vis Sci (2013) 0.81
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med (2016) 0.81
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Transl Pediatr (2015) 0.79
Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis. Invest Ophthalmol Vis Sci (2011) 0.77
¹H, ¹⁵N, and ¹³C chemical shift assignments of murine calcium-binding protein 4. Biomol NMR Assign (2013) 0.76
Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses. eNeuro (2016) 0.75
Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations. Mol Vis (2011) 0.75
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. Ophthalmic Genet (2017) 0.75
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet (2000) 2.70
Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat Neurosci (2004) 2.62
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet (1998) 2.56
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A (2005) 2.36
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet (1997) 2.19
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet (1993) 1.93
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet (1995) 1.90
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet (2006) 1.77
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet (2009) 1.68
Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol (1985) 1.67
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.63
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet (1994) 1.45
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol (2000) 1.39
A critical role of CaBP4 in the cone synapse. Invest Ophthalmol Vis Sci (2005) 1.31
Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis (2009) 1.18
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet (2009) 1.17
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci (2008) 1.14
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
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science (2011) 2.78
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep (2014) 2.12
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
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
Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. Am J Med Genet A (2011) 1.42
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene (2012) 1.41
Clinical characterisation of the CABP4-related retinal phenotype. Br J Ophthalmol (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
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat (2011) 1.28
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A (2009) 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
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
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis (2011) 1.03
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis (2009) 1.03
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet (2015) 1.03
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord (2013) 1.01
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
Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats. Invest Ophthalmol Vis Sci (2012) 0.98
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS One (2013) 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
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
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet (2011) 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
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
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
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. Neurology (2014) 0.92
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. Am J Med Genet A (2011) 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
Propionic acidemia associated with visual hallucinations. J Child Neurol (2011) 0.89
RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. Br J Ophthalmol (2012) 0.89
Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. J Pediatr Gastroenterol Nutr (2009) 0.89
Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci (2009) 0.89
Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family. Gene (2013) 0.88
A novel syndrome of lethal familial hyperekplexia associated with brain malformation. BMC Neurol (2012) 0.88
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat (2012) 0.88
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. Am J Med Genet A (2008) 0.87
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. J Med Genet (2012) 0.87
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. Am J Med Genet A (2009) 0.87
Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med (2012) 0.87
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet (2011) 0.86