Published in Hum Mutat on September 01, 2003
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. Clin Genet (2010) 1.55
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat (2011) 1.42
Kidney disease in nail-patella syndrome. Pediatr Nephrol (2008) 1.26
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res (2005) 1.19
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum Mutat (2007) 1.17
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat (2010) 1.14
An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement. Eur J Hum Genet (2009) 1.10
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. J Biol Chem (2009) 1.07
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS One (2008) 0.98
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. BMC Bioinformatics (2011) 0.94
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics (2009) 0.92
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. Eur J Hum Genet (2010) 0.91
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. Hum Mutat (2010) 0.90
McArdle disease: molecular genetic update. Acta Myol (2007) 0.88
BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. Fam Cancer (2012) 0.88
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. Orphanet J Rare Dis (2011) 0.85
Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility. PLoS One (2013) 0.82
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet J Rare Dis (2011) 0.82
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. Hum Mutat (2015) 0.82
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. Eur J Hum Genet (2009) 0.81
Functional analysis of 11 novel GBA alleles. Eur J Hum Genet (2013) 0.80
Molecular genetics of late onset glycogen storage disease II in Italy. Acta Myol (2007) 0.79
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). Neurogenetics (2005) 0.79
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia. J Med Genet (2006) 0.78
UASIS: Universal Automatic SNP Identification System. BMC Genomics (2011) 0.78
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications. J Inherit Metab Dis (2014) 0.78
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. PLoS One (2012) 0.78
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. Neurogenetics (2014) 0.77
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations. Eye (Lond) (2010) 0.77
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. PLoS One (2016) 0.76
VariVis: a visualisation toolkit for variation databases. BMC Bioinformatics (2008) 0.75
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms. Nucleic Acids Res (2008) 10.10
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
LOVD v.2.0: the next generation in gene variant databases. Hum Mutat (2011) 5.53
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat (2009) 2.59
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol (2013) 2.53
The value of data. Nat Genet (2011) 2.40
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Prorenin induces intracellular signaling in cardiomyocytes independently of angiotensin II. Hypertension (2006) 2.39
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet (2003) 2.17
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet (2006) 1.93
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord (2002) 1.72
Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat (2011) 1.62
High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli. Mol Biol Cell (2010) 1.56
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem (2012) 1.52
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet (2003) 1.52
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther (2004) 1.46
Fluorescent labelling of cRNA for microarray applications. Nucleic Acids Res (2003) 1.46
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
New methods for next generation sequencing based microRNA expression profiling. BMC Genomics (2010) 1.38
Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Mol Ther (2006) 1.38
Phage display screening without repetitious selection rounds. Anal Biochem (2011) 1.36
Can subtle changes in gene expression be consistently detected with different microarray platforms? BMC Genomics (2008) 1.36
A common reference for cDNA microarray hybridizations. Nucleic Acids Res (2002) 1.35
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes. BMC Bioinformatics (2008) 1.31
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey. BMC Genomics (2009) 1.31
Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet (2005) 1.30
Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat (2011) 1.30
Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome. BMC Genomics (2009) 1.29
Leiden Open Variation Database of the MUTYH gene. Hum Mutat (2010) 1.28
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat (2013) 1.27
Genome-wide assessment of differential roles for p300 and CBP in transcription regulation. Nucleic Acids Res (2010) 1.25
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet (2011) 1.24
Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation. Nucleic Acids Res (2012) 1.23
Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization. Transfusion (2005) 1.18
Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA. BMC Genomics (2012) 1.18
The effects of low levels of dystrophin on mouse muscle function and pathology. PLoS One (2012) 1.16
Guidelines for establishing locus specific databases. Hum Mutat (2011) 1.16
Novel protein-protein interactions inferred from literature context. PLoS One (2009) 1.13
Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies. Nucleic Acids Res (2010) 1.13
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet (2008) 1.12
Detecting copy number changes in genomic DNA: MAPH and MLPA. Methods Cell Biol (2004) 1.12
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 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
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat (2011) 1.08
Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A (2007) 1.08
Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation. Biochim Biophys Acta (2006) 1.08
Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs. Nucleic Acids Res (2004) 1.08
Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One (2011) 1.08
Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem (2007) 1.07
GENETICS. The Human Variome Project. Science (2008) 1.07
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat (2014) 1.06
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet (2010) 1.04
A study of the SORL1 gene in Alzheimer's disease and cognitive function. J Alzheimers Dis (2009) 1.02
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest (2010) 1.01
Expression profiling in stably regenerating skeletal muscle of dystrophin-deficient mdx mice. Neuromuscul Disord (2002) 1.01
Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophy. Proteomics (2008) 1.00
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. Hum Mutat (2012) 0.99
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum Mutat (2010) 0.99
Large-scale gene expression analysis of human skeletal myoblast differentiation. Neuromuscul Disord (2004) 0.98
Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing. Anal Bioanal Chem (2014) 0.97
Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing. Mol Ecol Resour (2014) 0.97
Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Hum Mol Genet (2002) 0.97
Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data. Nucleic Acids Res (2008) 0.96
Literature-aided interpretation of gene expression data with the weighted global test. Brief Bioinform (2010) 0.96
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat (2011) 0.96
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol (2007) 0.95
Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease. BMC Mol Biol (2008) 0.95
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet (2015) 0.94
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. BMC Bioinformatics (2011) 0.94
Embryonic expression patterns of the Drosophila dystrophin-associated glycoprotein complex orthologs. Gene Expr Patterns (2004) 0.93
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat (2010) 0.93
Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy. BMC Med Genomics (2011) 0.92
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat (2012) 0.92
Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans. BMC Genet (2009) 0.92
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet (2009) 0.92
Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease. BMC Bioinformatics (2008) 0.91
Gene expression variation between mouse inbred strains. BMC Genomics (2004) 0.91
New insights in gene-derived therapy: the example of Duchenne muscular dystrophy. Ann N Y Acad Sci (2010) 0.91
mRNA degradation controls differentiation state-dependent differences in transcript and splice variant abundance. Nucleic Acids Res (2010) 0.90
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet A (2003) 0.90