Published in Hum Mutat on January 06, 2012
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. PLoS One (2013) 1.28
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis (2013) 1.11
Nasal ciliary beat frequency and beat pattern in retinal ciliopathies. Invest Ophthalmol Vis Sci (2012) 1.00
Experience of targeted Usher exome sequencing as a clinical test. Mol Genet Genomic Med (2013) 0.94
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis (2014) 0.88
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. Hum Mol Genet (2015) 0.82
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Mol Vis (2013) 0.81
Adhesion G protein-coupled receptors in nervous system development and disease. Nat Rev Neurosci (2016) 0.79
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. Ann Otol Rhinol Laryngol (2015) 0.79
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients. Hum Mol Genet (2015) 0.79
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. Cell Rep (2016) 0.77
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. PLoS One (2014) 0.76
Partial USH2A deletions contribute to Usher syndrome in Denmark. Eur J Hum Genet (2015) 0.76
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. Mol Ther (2017) 0.75
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. Int J Mol Med (2015) 0.75
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. Mol Biol Rep (2017) 0.75
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet (2006) 3.16
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet (2009) 3.01
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat (2009) 2.93
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet (2004) 2.65
Holoprosencephaly. Orphanet J Rare Dis (2007) 2.63
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet (2003) 2.37
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res (2009) 2.28
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab (2002) 2.13
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer (2006) 2.05
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol (2004) 1.97
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet (2005) 1.95
Corneal ectasia after photorefractive keratectomy for low myopia. Ophthalmology (2006) 1.92
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat (2007) 1.89
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2009) 1.80
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004) 1.78
Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol (2004) 1.74
High risk of malignancy in mosaic variegated aneuploidy syndrome. Am J Med Genet (2002) 1.72
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. Am J Med Genet A (2010) 1.70
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol (2008) 1.64
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur J Hum Genet (2003) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Glucagon-like peptide-1 is involved in sodium and water homeostasis in humans. Digestion (2006) 1.53
UMD (Universal Mutation Database): 2005 update. Hum Mutat (2005) 1.52
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
Axial length of myopia: a review of current research. Ophthalmologica (2010) 1.51
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations. Eur J Hum Genet (2006) 1.51
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50
Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation. Invest Ophthalmol Vis Sci (2012) 1.50
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum Mutat (2010) 1.48
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene. Hum Mutat (2013) 1.47
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. Hum Mutat (2012) 1.46
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45