Published in J Cyst Fibros on December 01, 2004
Mutation spectrum of Egyptian children with cystic fibrosis. Springerplus (2016) 0.80
Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine. PLoS One (2015) 0.78
R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series. J Med Case 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
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
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Incidence of autoimmune diseases in celiac disease: protective effect of the gluten-free diet. Clin Gastroenterol Hepatol (2008) 2.50
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 detection of multiple emerging pathogens in sputa from cystic fibrosis patients. PLoS One (2008) 2.23
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer (2006) 2.05
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
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
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol (2004) 1.74
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
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
Impact of age at Kasai operation on its results in late childhood and adolescence: a rational basis for biliary atresia screening. Pediatrics (2009) 1.62
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
UMD (Universal Mutation Database): 2005 update. Hum Mutat (2005) 1.52
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
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum Mutat (2010) 1.48
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
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene. Hum Mutat (2013) 1.47
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat (2014) 1.45
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat (2009) 1.40
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. J Neurosurg (2004) 1.37
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat (2011) 1.36
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur J Hum Genet (2002) 1.34
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol (2010) 1.32
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. J Cell Sci (2006) 1.30
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
The UMD TP53 database and website: update and revisions. Hum Mutat (2006) 1.26
Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet (2004) 1.24
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat (2008) 1.24
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection. Clin Cancer Res (2006) 1.19
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet (2012) 1.16
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol (2003) 1.16
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Management of patients with biliary atresia in France: results of a decentralized policy 1986-2002. Hepatology (2006) 1.13
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet (2009) 1.11
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat (2009) 1.11
Evaluation of serum lipase as predictor of severity of acute pancreatitis in children. J Pediatr Gastroenterol Nutr (2014) 1.11
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
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Hum Mutat (2011) 1.10
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med (2009) 1.10
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Mol Vis (2007) 1.09
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet (2009) 1.09
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials. Eur J Paediatr Neurol (2011) 1.08
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet (2007) 1.08
Inquilinus limosus and cystic fibrosis. Emerg Infect Dis (2008) 1.08
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat (2011) 1.08
Genomic analysis of an emerging multiresistant Staphylococcus aureus strain rapidly spreading in cystic fibrosis patients revealed the presence of an antibiotic inducible bacteriophage. Biol Direct (2009) 1.07
Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res (2008) 1.07
Nocardia farcinica lung infection in a patient with cystic fibrosis: a case report. J Med Case Rep (2010) 1.06
An mtDNA perspective of French genetic variation. Ann Hum Biol (2007) 1.04
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatr Res (2011) 1.04
Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci (2011) 1.03
CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat (2003) 1.02
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat (2003) 1.02
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. Hum Mutat (2010) 1.01
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet (2012) 1.01
Outbreak of Corynebacterium pseudodiphtheriticum infection in cystic fibrosis patients, France. Emerg Infect Dis (2010) 1.00
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. Neurogenetics (2002) 0.99
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? BMC Med Genet (2004) 0.99
TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat (2008) 0.96
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study. Mov Disord (2010) 0.96
Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway. Nucleic Acids Res (2005) 0.96
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. Arch Dis Child (2013) 0.96
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. Eur J Hum Genet (2005) 0.95
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. BMC Genet (2003) 0.95
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). Hum Mutat (2005) 0.95
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. J Med Genet (2010) 0.95
Efficacy of infliximab in pediatric Crohn's disease: a randomized multicenter open-label trial comparing scheduled to on demand maintenance therapy. Inflamm Bowel Dis (2009) 0.93
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 0.93
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome. Eur J Med Genet (2010) 0.92
Efficacy and tolerance of infliximab in children and adolescents with Crohn's disease. Inflamm Bowel Dis (2004) 0.92
Risk factors for Aspergillus colonization and allergic bronchopulmonary aspergillosis in children with cystic fibrosis. Pediatr Pulmonol (2010) 0.92
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. Eur J Hum Genet (2009) 0.92
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One (2011) 0.91
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet (2010) 0.91
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. Am J Med Genet A (2014) 0.91
Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet (2007) 0.90
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice. J Cyst Fibros (2011) 0.90