| UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene |
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| Mandatory variant submission-Our experiences |
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| Molecular bypass switches for the targeted correction of ATM mutations |
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| A database of genetic variants in microRNA genes and their putative functional roles in gene regulation |
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| Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of <i>GRIA3</i>
is associated with <i>GRIA3</i>
silencing and X-linked inte |
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| The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1 |
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| Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD |
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| A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants |
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| Mutations in the planar cell polarity genes<i>CELSR1</i>and<i>SCRIB</i>are associated with the severe neural tube defect craniorachischisis |
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| <i>VAX1</i>mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a<i>VAX1</i>phenotype in humans |
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| Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications |
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| Genetic variation in<i>APOB</i>,<i>PCSK9</i>, and<i>ANGPTL3</i>in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels |
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| Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis |
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| Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon |
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| BAG3 in heart disease: Novel clues for cardiomyocyte survival from the Z-disk? |
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| Location, Location,<i>Cis</i>-mutation |
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| Next-generation sequencing in molecular diagnosis: <i>NUBPL</i>
mutations highlight the challenges of variant detection and interpretation |
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| Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by<i>SLC4A11</i>mutations |
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| Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs |
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| <i>CDH13</i>
gene coding t-cadherin influences variations in plasma adiponectin levels in the Japanese population |
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|
✓ |
|
Japanese population |
| <i>CRB1</i>
mutations in inherited retinal dystrophies |
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| A missense mutation in <i>PIK3R5</i>
gene in a family with ataxia and oculomotor apraxia |
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| The <i>COL7A1</i>
mutation database |
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| Hansa: An automated method for discriminating disease and neutral human nsSNPs |
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| <i>FZD6</i>is a novel gene for human neural tube defects |
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| Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias |
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| Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis |
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| Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum |
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| Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3<i>NF1</i>deletions |
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| Identification of autosomal recessive disease loci using out-bred nuclear families |
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| Guidelines for establishing locus specific databases |
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| Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta |
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| A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens |
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| RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation |
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| No trespassing: Ancient BST2 deletion confers protection against simian immunodeficiency virus infection of humans |
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| mRNA editing, FAS, and systemic lupus erythematosus |
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| Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia |
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| A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia |
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| Using systematic nomenclature for CFTR variants: Improvement needed |
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| A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N) |
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| Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy |
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| Somatic mutations in the chromatin remodeling gene
<i>ARID1A</i>
occur in several tumor types |
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| Curating gene variant databases (LSDBs): Toward a universal standard |
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| Novel FAM20A mutations in hypoplastic amelogenesis imperfecta |
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| Functional characterization of splicing and ligand-binding domain variants in the LDL receptor |
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| A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) |
|
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| ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and |
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| Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses |
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| Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients |
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| Menstrual cycle-dependent febrile episode mediated by sequence-specific repression of poly(ADP-ribose) polymerase-1 on the transcription of the human serotonin receptor 1A gene |
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| Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 |
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| Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs |
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| A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome”. W |
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| Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility |
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| The large-scale distribution of somatic mutations in cancer genomes |
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| Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats |
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| Enhancer-adoption as a mechanism of human developmental disease |
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| A Severe Form of Abetalipoproteinemia Caused by New Splicing Mutations of Microsomal Triglyceride Transfer Protein |
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| Non-Canonical DNA Structures in Genomic DNA and Their Role in Predisposition to Mutations |
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| Digenic Inheritance in Axenfeld Rieger Syndrome |
|
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| SOX2 haploinsufficiency is associated with slow progressing hypothalamo‐pituitary tumours |
|
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| SpliceAid 2: A database of human splicing factors expression data and RNA target motifs |
|
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| Assessment of human nter and cter<i>BRCA1</i>mutations using growth and localization assays in yeast |
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| Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia |
|
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| Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy |
|
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| Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their r |
|
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| Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements |
|
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| Genotype-phenotype correlation in primary carnitine deficiency |
|
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| dbHCCvar: A comprehensive database of human genetic variations in hepatocellular carcinoma |
|
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| Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history |
|
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| Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures |
|
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|
| DRUMS: A human disease related unique gene mutation search engine |
|
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| Rare disease registries and mutation/variation databases |
|
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|
| Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase |
|
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|
| DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families |
|
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|
| First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype |
|
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|
| High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations |
|
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| Estimating the degree of identity by descent in consanguineous couples |
|
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|
| Whole-exome sequencing identifies<i>ALMS1, IQCB1, CNGA3</i>, and<i>MYO7A</i>mutations in patients with leber congenital amaurosis |
|
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| Competitive amplification of differentially melting amplicons (CADMA) enables sensitive and direct detection of all mutation types by high-resolution melting analysis |
|
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|
| Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population |
|
|
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|
|
✓ |
|
Chinese population |
| Identification and characterization of novel rare mutations in the planar cell polarity gene<i>PRICKLE1</i>in human neural tube defects |
|
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|
|
| Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer |
|
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| Dilated cardiomyopathy-associated<i>BAG3</i>mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes |
|
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| Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study |
|
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|
| Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension |
|
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|
| SgD-CNV, a database for common and rare copy number variants in three Asian populations |
|
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|
✓ |
|
Asian |
| A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations |
|
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|
|
| Extending the phenotypes associated with<i>DICER1</i>mutations |
|
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|
| Evidence of association of<i>APOE</i>with age-related macular degeneration - a pooled analysis of 15 studies |
|
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|
| First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs |
|
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| A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema |
|
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| High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations |
|
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| Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances |
|
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| Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome |
|
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|
| Large deletions of the<i>KCNV2</i>gene are common in patients with cone dystrophy with supernormal rod response |
|
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|
| Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome |
|
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|
| On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease |
|
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| The polymorphism and haplotypes of PIN1 gene are associated with the risk of lung cancer in southern and eastern chinese populations |
|
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|
|
|
|
✓ |
|
chinese populations |
| Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays |
|
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|
| Mutations in<i>LRRK2</i>increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death |
|
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|
|
| Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort |
|
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|
| Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity |
|
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|
|
| A cis-acting regulatory variation of the estrogen receptor α (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis |
|
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|
|
| Disrupted posttranscriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5′UTR mutation is associated with a cftr-related disease |
|
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|
|
| Prediction of functional regulatory SNPs in monogenic and complex disease |
|
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|
| A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway |
|
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|
| A mutation in SCARB2 is a modifier in gaucher disease |
|
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|
| Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family |
|
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|
| Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients |
|
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|
|
| Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme |
|
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|
| Ancient origin of a deletion in human BST2/Tetherin that confers protection against viral zoonoses |
|
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|
|
| GLI3 is rarely implicated in OFD syndromes with midline abnormalities |
|
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|
| Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy |
|
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|
| Functional consequences and structural interpretation of mutations of human choline acetyltransferase |
|
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|
|
| Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2 |
|
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|
|
| FAS mRNA editing in human systemic lupus erythematosus |
|
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|
|
| In Search of Genomic Stability: Characterizing Copy Number Stable Regions |
|
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|
| DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene |
|
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|
|
| New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects |
|
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|
|
| Identification of Novel Exon and Transcript of EHMTI Improves Kleefstra Syndrome Diagnosis and Highlights Limitations of Our Current Knowledge of the Human Genome |
|
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|
|
| Breakage-Fusion-Bridge Cycles Causing Chromosome Instability in Human Cleavage Stage Embryos |
|
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|
| Classical Investigation of Incomplete Collagen C-propeptide Processing Reveals a Distinctive High Bone Mass OI Phenotype |
|
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|
|
| Comparison of Programs for in silico Assessment of Missense Substitutions |
|
|
|
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|
|
| A novel<i>GJA3</i>mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family |
|
|
|
|
|
|
✓ |
|
chinese |
| Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease |
|
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|
| The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations |
|
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|
|
| Mutations in NOTCH2 in families with Hajdu-Cheney syndrome |
|
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|
| N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy |
|
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|
|
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|
|
| Analysis of pathway mutation profiles highlights collaboration between cancer-associated superpathways |
|
|
|
|
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|
|
| REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction |
|
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|
|
| Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management |
|
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|
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|
|
| A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women |
|
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|
|
| Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2 |
|
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|
| A pharmacogenetic approach to identify mutant forms of α‐galactosidase a that respond to a pharmacological chaperone for Fabry disease |
|
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|
|
| <i>LPAR1</i>and<i>ITGA4</i>regulate peripheral blood monocyte counts |
|
|
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|
|
|
|
|
|
| The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers |
|
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|
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|
|
| L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline |
|
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|
|
| Clinical and biochemical heterogeneity associated with fumarase deficiency |
|
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|
| Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes |
|
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|
| Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes |
|
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|
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|
|
| Pathogenic effects of novel mutations in the P‐type ATPase
<i>ATP13A2</i>
(
<i>PARK9</i>
) causing Kufor‐Rakeb syndrome, a form of early‐onset parkinson |
|
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|
| Characterization of copy number‐stable regions in the human genome |
|
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|
| Duplication of the<i>EFNB1</i>gene in familial hypertelorism: imbalance in ephrin‐B1 expression and abnormal phenotypes in humans and mice |
|
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|
|
| <i>ACTN3</i>
genotype, athletic status, and life course physical capability: meta‐analysis of the published literature and findings from nine studies |
|
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|
|
| A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy |
|
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|
| Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency |
|
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|
| Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome |
|
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| A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:<i>NOG</i>‐related‐symphalangism spectrum disorder (<i>N |
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| Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy |
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| Birt Hogg‐Dubé syndrome‐associated FLCN mutations disrupt protein stability |
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| Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia |
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| Deficiency in DNA mismatch repair increases the rate of telomere shortening in normal human cells |
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| Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants |
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| DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss |
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| Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients |
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| Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency |
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| Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans |
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✓ |
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Europeans |
| U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation |
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| <i>ThalInd</i>
, a β‐thalassemia and hemoglobinopathies database for India: defining a model country‐specific and disease‐centric bioinformatics resource |
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| dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions |
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| Common
<i>CFTR</i>
haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens |
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| Mutation update for the PORCN gene |
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| Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants |
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| A TCTN2 mutation defines a novel Meckel Gruber syndrome locus |
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| Classifying variants of CDKN2A using computational and laboratory studies |
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| Human and Mouse Models Suggest that Subclinical Defects of Wound Healing Contribute to Oculodentodigital Dysplasia (ODDD) |
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| Pseudoexon Activation Caused by Intronic Double‐deletion Events in the
<i>DMD</i>
Gene |
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| Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos |
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| A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia |
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| Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex |
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| IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles |
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✓ |
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European patients |
| Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary |
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| Update on SLC26A3 mutations in congenital chloride diarrhea |
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| WAVe: web analysis of the variome |
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| A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism |
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| A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP) |
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| SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations |
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| A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia |
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| The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome |
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| Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation |
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| Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer |
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| Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I |
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| Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes |
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| Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity |
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| A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 |
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| Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction |
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| Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma |
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| miRvar: A comprehensive database for genomic variations in microRNAs |
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| Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa |
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| Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family |
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| Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed |
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| COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta |
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| BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition |
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| New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation |
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| SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes |
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| A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) |
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| An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research |
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| Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? |
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| Carpenter syndrome: extended
<i>RAB23</i>
mutation spectrum and analysis of nonsense‐mediated mRNA decay |
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| SNP and haplotype analysis reveals new
<i>HFE</i>
variants associated with iron overload trait |
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| Initiating a Human Variome Project Country Node |
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| A novel nonsense mutation in the
<i>APTX</i>
gene associated with delayed DNA single‐strand break removal fails to enhance sensitivity to different genotoxic agents |
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| Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic function |
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| Heterogeneity in the processing of
<i>CLCN5</i>
mutants related to Dent disease |
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| Bioinformatics for Human Genetics: Promises and Challenges |
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| The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing |
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| Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium |
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| Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease |
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| Novel
<i>C2orf71</i>
mutations account for ∼1% of cases in a large French arRP cohort |
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| Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound‐healing defects |
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| Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genes |
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| Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations |
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| Emerging landscape of genomics in the electronic health record for personalized medicine |
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| Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in<i>BRCA1</i>exon 6 |
|
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| New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations |
|
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| Functional assessment of variants in the
<i>TSC1</i>
and
<i>TSC2</i>
genes identified in individuals with Tuberous Sclerosis Complex |
|
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| Databases in the area of pharmacogenetics |
|
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| Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010 |
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| CGEN-A clinical GENetics software application |
|
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| Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system |
|
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| BioGrid Australia facilitates collaborative medical and bioinformatics research across hospitals and medical research institutes by linking data from diverse disease and data types |
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| Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity |
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| Describing structural changes by extending HGVS sequence variation nomenclature |
|
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| Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations |
|
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| Homozygosity mapping on a single patient—identification of homozygous regions of recent common ancestry by using population data |
|
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| A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer |
|
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| LOVD v.2.0: the next generation in gene variant databases |
|
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|
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| Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/
<i>CHST14</i>
) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clu |
|
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|
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| SNP uniqueness problem: a proof‐of‐principle in HapMap SNPs |
|
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| Alterations of excitation-contraction coupling and excitation coupled Ca2+ entry in human myotubes carrying CAV3 mutations linked to rippling muscle |
|
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| Understanding the Underlying Pathological Mechanism of Mutations Located in 3′ Splice Sites and Adjacent Exonic Regions |
|
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| Induction of phenotype modifying cytokines by
<i>FERMT1</i>
mutations |
|
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| A novel nonstop mutation in
<i>TYMP</i>
does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy |
|
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|
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| Characterization of
<i>MSH2</i>
variants by endogenous gene modification in mouse embryonic stem cells |
|
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|
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| Germline gain-of-function mutations of ALK disrupt central nervous system development |
|
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| Phylogenetic and in silico structural analysis of the Parkinson disease‐related kinase PINK1 |
|
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|
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| Performance of mutation pathogenicity prediction methods on missense variants |
|
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| A simplified method for segregation analysis (SISA) to determine penetrance and expression of a genetic variant in a family |
|
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|
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| Recurrence and variability of germline
<i>EPCAM</i>
deletions in Lynch syndrome |
|
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|
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| Exploring the functional consequences of genomic variation: The 2010 Human Genome Variation Society Scientific Meeting |
|
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|
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| Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene |
|
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|
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| NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome |
|
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| Defining the pathogenicity of creatine deficiency syndrome |
|
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| Meiotic recombination favors the spreading of deleterious mutations in human populations |
|
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| Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes |
|
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| Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in |
|
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| Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1) |
|
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|
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| Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration |
|
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|
|
| Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndrom |
|
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|
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|
|
| Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations |
|
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|
|
| EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients |
|
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| SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site |
|
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| Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome |
|
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| Novel genomic techniques open new avenues in the analysis of monogenic disorders |
|
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| Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations |
|
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| Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study |
|
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| Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inheri |
|
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| Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin |
|
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| From lowe syndrome to Dent disease: correlations between mutations of the
<i>OCRL1</i>
gene and clinical and biochemical phenotypes |
|
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| Searching for the missing heritability of complex diseases |
|
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| Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations |
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