Published in Hum Mutat on June 01, 2009
Dispelling myths about rare disease registry system development. Source Code Biol Med (2013) 1.68
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
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
Novel diagnostic features of dysferlinopathies. Muscle Nerve (2010) 1.12
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
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. Eur J Hum Genet (2014) 1.00
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat (2014) 0.99
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. Am J Hum Genet (2014) 0.97
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
A MEN1 syndrome with a paraganglioma. Eur J Hum Genet (2013) 0.90
Deriving a mutation index of carcinogenicity using protein structure and protein interfaces. PLoS One (2014) 0.89
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet (2013) 0.85
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. PLoS One (2011) 0.85
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. Database (Oxford) (2013) 0.83
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. Am J Hum Genet (2013) 0.81
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. Hum Mutat (2016) 0.81
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. Chin Med J (Engl) (2016) 0.80
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. J Neuromuscul Dis (2015) 0.76
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. Mol Genet Genomic Med (2014) 0.75
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. J Neuromuscul Dis (2015) 0.75
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria. ScientificWorldJournal (2012) 0.75
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence. BMC Genomics (2017) 0.75
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma. Langenbecks Arch Surg (2017) 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
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
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
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
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
Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma. Carcinogenesis (2002) 2.04
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
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
UMD (Universal Mutation Database): 2005 update. Hum Mutat (2005) 1.52
Marfan syndrome in the third Millennium. Eur J Hum Genet (2002) 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
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
Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer. Hepatology (2004) 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
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
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
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci (2002) 1.33
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat (2007) 1.31
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
The UMD TP53 database and website: update and revisions. Hum Mutat (2006) 1.26
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
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
Nomograms for aortic root diameters in children using two-dimensional echocardiography. Am J Cardiol (2010) 1.23
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22
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
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides. Hum Mutat (2003) 1.16
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat (2005) 1.15
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
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. Hum Mutat (2004) 1.13
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet (2009) 1.11
Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat (2009) 1.11
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat (2009) 1.11