Published in Hum Mutat on September 01, 2005
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
The molecular genetics of Marfan syndrome and related disorders. J Med Genet (2006) 2.45
Function of alternative splicing. Gene (2012) 2.00
Dispelling myths about rare disease registry system development. Source Code Biol Med (2013) 1.68
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Towards precision medicine: advances in computational approaches for the analysis of human variants. J Mol Biol (2013) 1.23
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res (2011) 1.11
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
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction. BMC Bioinformatics (2009) 1.06
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet (2008) 0.92
Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet (2007) 0.90
A survey of APC mutations in Quebec. Fam Cancer (2011) 0.89
A multinodular goiter as the initial presentation of a renal cell carcinoma harbouring a novel VHL mutation. BMC Endocr Disord (2006) 0.85
Genetic signature for human risk assessment: lessons from trichloroethylene. Environ Mol Mutagen (2009) 0.84
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. Database (Oxford) (2013) 0.83
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. Orphanet J Rare Dis (2012) 0.82
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. Eur J Hum Genet (2009) 0.80
DiMeX: A Text Mining System for Mutation-Disease Association Extraction. PLoS One (2016) 0.80
Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. J Hum Genet (2016) 0.77
Significance of 1B and 2B domains in modulating elastic properties of lamin A. Sci Rep (2016) 0.76
Characterization of new-generation aminoglycoside promoting premature termination codon readthrough in cancer cells. RNA Biol (2017) 0.76
VariVis: a visualisation toolkit for variation databases. BMC Bioinformatics (2008) 0.75
Analysis of mismatch repair gene mutations in Turkish HNPCC patients. Fam Cancer (2010) 0.75
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. Mol Genet Genomic Med (2014) 0.75
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67
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
NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. J Biol Chem (2004) 4.37
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J (2013) 3.58
The TP53 colorectal cancer international collaborative study on the prognostic and predictive significance of p53 mutation: influence of tumor site, type of mutation, and adjuvant treatment. J Clin Oncol (2005) 3.48
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
The UMD-p53 database: new mutations and analysis tools. Hum Mutat (2003) 2.89
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. Int J Epidemiol (2010) 2.44
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol (2004) 2.37
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience. Nat Rev Cancer (2006) 2.05
Mutant p53 protein localized in the cytoplasm inhibits autophagy. Cell Cycle (2008) 2.03
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
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet (2011) 1.77
Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol (2004) 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
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67
C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome. Obesity (Silver Spring) (2007) 1.58
Targeted expression of oncogenic K-ras in intestinal epithelium causes spontaneous tumorigenesis in mice. Gastroenterology (2002) 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
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat (2005) 1.54
Marfan syndrome in the third Millennium. Eur J Hum Genet (2002) 1.52
Lack of HIN-1 methylation defines specific breast tumor subtypes including medullary carcinoma of the breast and BRCA1-linked tumors. Cancer Biol Ther (2003) 1.52
Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet (2015) 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
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. Circ Cardiovasc Genet (2015) 1.50
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum Mutat (2010) 1.48
Analysis of p53 mutation status in human cancer cell lines: a paradigm for cell line cross-contamination. Cancer Biol Ther (2008) 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
Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma. Haematologica (2010) 1.42
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet (2013) 1.40
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat (2006) 1.40
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
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
TP53 mutations in human cancer: database reassessment and prospects for the next decade. Hum Mutat (2014) 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
Nomograms for aortic root diameters in children using two-dimensional echocardiography. Am J Cardiol (2010) 1.23
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol (2008) 1.20
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
In vivo evidence that furin from hepatocytes inactivates PCSK9. J Biol Chem (2010) 1.18
Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors. Proc Natl Acad Sci U S A (2012) 1.17
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
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
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
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
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med (2009) 1.10
Aortic event rate in the Marfan population: a cohort study. Circulation (2011) 1.09
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Mol Vis (2007) 1.09
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat (2012) 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
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. Arch Cardiovasc Dis (2010) 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
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet (2007) 1.08
The UMD-LDLR database: additions to the software and 490 new entries to the database. Hum Mutat (2002) 1.07