| BAK1 gene variation and abdominal aortic aneurysms |
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| Identifying sequence variants in the human mitochondrial genome using high resolution melt (HRM) profiling |
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| Linkage exclusion mapping: rare diseases get SAMPLE'd |
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| Toward understanding the molecular basis of ovarian cancer |
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| Selective amplification of mutant DNA: Mutations come to light in melting DNA |
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| <i>PINK1</i>mutations: Does the dosage make the poison? |
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| Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides |
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| Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect |
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| Recurrent copy number alterations in<i>BRCA1</i>-mutated ovarian tumors alter biological pathways |
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| Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb) |
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| Update on mutations in glucokinase (<i>GCK</i>), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia |
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| Structural aspects of therapeutic enzymes to treat metabolic disorders |
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| Response to: The c.−103T>C variant in the 5′-UTR of<i>SLC26A4</i>gene: a pathogenic mutation or coincidental polymorphism? |
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| The c.−103T>C variant in the 5′-UTR of<i>SLC26A4</i>gene: a pathogenic mutation or coincidental polymorphism? |
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| Epigenetics in facioscapulohumeral muscular dystrophy (FSHD) |
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| <i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality |
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| A common variant in<i>MTHFD1L</i>is associated with neural tube defects and mRNA splicing efficiency |
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| ssSNPTarget: genome-wide splice-site single nucleotide polymorphism database |
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| Novel missense mutations in the<i>FOXC2</i>gene alter transcriptional activity |
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| Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (<i>cblC</i>) with homocystinuria (MMACHC) |
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| Deep sequencing to reveal new variants in pooled DNA samples |
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| The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase |
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| Mutation spectrum of homogentisic acid oxidase (<i>HGD</i>) in alkaptonuria |
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| Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why? |
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| Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort |
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| Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the<i>NPC1</i>gene causing Niemann-Pick type C disease |
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| Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma |
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| Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia |
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| <i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation |
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| Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria) |
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| Widening the mutation spectrum of<i>EVC</i>and<i>EVC2</i>: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling |
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| Toward the ideal âMutation Updateâ and âLocus Specific Databaseâ for disease genes |
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| Defective protein trafficking: From craniofacial disease to congenital dyserythropoietic anemia |
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| SNP-chips versus CNV patterns: Thinking outside the box |
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| The genetic basis of long QT and short QT syndromes: A mutation update |
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| Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders |
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| Mutation within<i>TARDBP</i>leads to Frontotemporal Dementia without motor neuron disease |
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| Functional redundancy of exon 12 of<i>BRCA2</i>revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant |
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| Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (<i>GNPTAB</i>) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients |
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| <i>NR2E3</i>mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP) |
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| Dissecting initiation of gene conversion events |
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| Insights into the importance of miRNA-related polymorphisms to heart disease |
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| Response to: Extremely low risk of pheochromocytomas in complete VHL gene deletion cases |
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| Extremely low risk of pheochromocytomas in complete VHL gene deletion cases |
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| The<i>APC</i>Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic<i>APC</i>mutations |
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| Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy |
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| <i>EYA4</i>, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with<i>SIX3</i>both physically and functionally |
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| <i>SMC1A</i>expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome |
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| Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes |
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| The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synt |
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| Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD |
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| Exon skipping-mediated dystrophin reading frame restoration for small mutations |
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| Mutation of<i>ACTA2</i>gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD) |
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| Single nucleotide variation detection by ligation of universal probes on a 3D poyacrylamide gel DNA microarray |
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| Seeing clearly: the dominant and recessive nature of<i>FOXE3</i>in eye developmental anomalies |
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| Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis |
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| p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation |
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| The<i>SCN1A</i>variant database: a novel research and diagnostic tool |
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| RFT1 deficiency in three novel CDG patients |
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| <i>cblC</i>: Advances in defining the<i>MMACHC</i>mutation spectrum |
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| A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance |
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| A splice site mutation combined with a novel missense mutation of<i>LHCGR</i>cause male pseudohermaphroditism |
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| Genetic heterogeneity and cystic fibrosis |
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| The folliculin mutation database: An online database of mutations associated with Birt-Hogg-Dubé syndrome |
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| A survey of<i>ABCA1</i>sequence variation confirms association with dementia |
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| Variation in novel exons (RACEfrags) of the<i>MECP2</i>gene in Rett syndrome patients and controls |
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| Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset<i>GLA</i>mutation c.936+919G>A (IVS4+919G>A) |
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| Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the<i>SEC23B</i>gene |
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| Genetic variations as cancer prognostic markers: review and update |
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| Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome |
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| Molecular pathology of the fibroblast growth factor family |
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| Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus |
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| Microdeletion/duplication at the Xq28 IP<i>locus</i>causes a de novo<i>IKBKG/NEMO/IKKgamma</i>exon4_10 deletion in families with incontinentia pigmenti |
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| The genetic basis of Brugada syndrome: A mutation update |
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| Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites |
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| Functional<i>FEN1</i>polymorphisms are associated with DNA damage levels and lung cancer risk |
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| Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>) |
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| A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy |
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| Intragenic deletion of<i>TRIM32</i>in compound heterozygotes with sarcotubular myopathy/LGMD2H |
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| Primary hyperoxaluria type 1: update and additional mutation analysis of the<i>AGXT</i>gene |
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| Novel mutations of the suppressor gene<i>PTEN</i>in colorectal carcinomas stratified by microsatellite instability- and<i>TP53</i>mutation- status |
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| Mutation-specific database and bioinformatics resource for<i>DMD</i> |
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| Fishing for domains of the CCM3 protein |
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| Mosaic mutation detection: finding the rare ones |
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| Quantitative sequence analysis of<i>FBN1</i>premature termination codons provides evidence for incomplete NMD in leukocytes |
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| Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? |
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| Mutations in the<i>GUCA1A</i>gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase |
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| A gene-alteration profile of human lung cancer cell lines |
|
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| Prediction of function changes associated with single-point protein mutations using support vector machines (SVMs) |
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| Copy-number variations (CNVs) of the human sex steroid metabolizing genes<i>UGT2B17</i>and<i>UGT2B28</i>and their associations with a<i>UGT2B15</i>functional polymorphism |
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| High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families |
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| Functional annotations improve the predictive score of human disease-related mutations in proteins |
|
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| Molecular characterization of the new defective P<sub>brescia</sub>alpha1-antitrypsin allele |
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| Measurement of admixture proportions and description of admixture structure in different U.S. populations |
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| Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population |
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| BAK1 gene variation and abdominal aortic aneurysms |
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| Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel<i>OPA1</i>mutations |
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| Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group |
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| Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future |
|
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| Down Syndrome-Hirschsprung Linked through<i>RET</i>Enhancer |
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| A rescuable folding defective Na<sub>v</sub>1.1 (<i>SCN1A</i>) sodium channel mutant causes GEFS+: Common mechanism in Na<sub>v</sub>1.1 related epilepsies? |
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| Is That a Pathogenic Mutation, a Rare Non-pathogenic Variant, or Don't You Know? |
|
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| <i>BBS7</i>and<i>TTC8</i>(<i>BBS8</i>) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population |
|
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| Baculovirus complementation restores a novel<i>NDUFAF2</i>mutation causing complex I deficiency |
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| Different functional consequences of two missense mutations in the<i>GJB2</i>gene associated with non-syndromic hearing loss |
|
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| <i>LRRK2</i>gene variation and its contribution to Parkinson disease |
|
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| Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis |
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| GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase |
|
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| Predicting the pathogenicity of<i>RPE65</i>mutations |
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| Modeling ATM mutant proteins from missense changes confirms retained kinase activity |
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| <i>GJA1</i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype |
|
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| <i>APP</i>and<i>BACE1</i>miRNA genetic variability has no major role in risk for Alzheimer disease |
|
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| Three common polymorphisms in the<i>CYBA</i>gene form a haplotype associated with decreased ROS generation |
|
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| Update of cylindromatosis gene (<i>CYLD</i>) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling |
|
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| Functional properties of missense variants of human tryptophan hydroxylase 2 |
|
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| Novel mutations in<i>VANGL1</i>in neural tube defects |
|
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| The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of<i>LDLR</i>mutations and role of<i>PCSK9</i>as a modifier gene |
|
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| Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship |
|
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|
✓ |
|
Asian |
| Phenotypic spectrum of<i>STRA6</i>mutations: from Matthew-Wood syndrome to non-lethal anophthalmia |
|
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| <i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality |
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| Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole |
|
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| Copy number variation at the<i>FCGR</i>locus includes<i>FCGR3A, FCGR2C</i>and<i>FCGR3B</i>but not<i>FCGR2A</i>and<i>FCGR2B</i> |
|
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| Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy |
|
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| Interaction between a chromosome 10<i>RET</i>enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association |
|
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| Mutations of the<i>EPHA2</i>receptor tyrosine kinase gene cause autosomal dominant congenital cataract |
|
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| The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland |
|
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|
✓ |
|
French-Canadian; Ireland |
| Data Sharing: Standards for Bioinformatic Cross-Talk |
|
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| Novel<i>KCNE3</i>mutation reduces repolarizing potassium current and associated with long QT syndrome |
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| Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency |
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| After All, Size May Matter |
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| Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study |
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| Identification and characterization of<i>SMPD1</i>mutations causing Niemann-Pick types A and B in Spanish patients |
|
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| Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci |
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| Molecular profiling of the âplexinomeâ in melanoma and pancreatic cancer |
|
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| High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening |
|
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| Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair |
|
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| A novel mutation in CD40 and its functional characterization |
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| The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation |
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| <i>Alu</i>-<i>Alu</i>recombination underlies the vast majority of large<i>VHL</i>germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients |
|
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| Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments |
|
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| Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods |
|
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| Classifying<i>MLH1</i>and<i>MSH2</i>variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics |
|
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| Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of the<i>EPM2A</i>and<i>NHLRC1</i>genes |
|
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| Spectrum of mutations in<i>MMACHC</i>, allelic expression, and evidence for genotypeâphenotype correlations |
|
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| Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling |
|
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| Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of<i>BRCA1</i>mutation scanning using the 96-well LightScanner™ |
|
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| Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (<i>NTRK3</i>) as susceptibility factors for anxiety disorders |
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| SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias |
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| Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population |
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| Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008 |
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| A novel<i>CLN8</i>mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function |
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| Functional, structural, and genetic evaluation of 20<i>CDKN2A</i>germ line mutations identified in melanoma-prone families or patients |
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| Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease |
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| Partial deletion of the<i>MAPT</i>gene: A novel mechanism of FTDP-17 |
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| BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein |
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| Detection of mosaic<i>RB1</i>mutations in families with retinoblastoma |
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| Identification of novel mutations in the<i>SLC25A15</i>gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study |
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| Neurofibromatosis type 1 antisense therapy on the horizon? |
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| Converging on Alzheimer Disease loci in chromosome 10 |
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| Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations |
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| Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations |
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| Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia |
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| Novel mutations in 3-phosphoglycerate dehydrogenase (<i>PHGDH</i>) are distributed throughout the protein and result in altered enzyme kinetics |
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| Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome |
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| Molecular neonatal screening for homocystinuria in the Qatari population |
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| Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein |
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| Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS) |
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| Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to<i>MLH1</i>germline mutations in Lyn |
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| Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome) |
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| Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic |
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| High frequency of<i>TARDBP</i>gene mutations in Italian patients with amyotrophic lateral sclerosis |
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| Penetrance of pulmonary arterial hypertension is modulated by the expression of normal<i>BMPR2</i>allele |
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| Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum |
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| <i>DMD</i>exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6 |
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| Hypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms? |
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| Analysis of inherited genetic variations at the<i>UGT1</i>locus in the French-Canadian population |
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✓ |
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French-Canadian population |
| Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (<i>PCSK9</i>) gene in cholesterol metabolism and disease |
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| Systematic evaluation of the effect of common SNPs on pre-mRNA splicing |
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| Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism |
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| Increasing the number of diagnostic mutations in malignant hyperthermia |
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| The SAAPdb web resource: A large-scale structural analysis of mutant proteins |
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| <i>LGI1</i>mutations in autosomal dominant and sporadic lateral temporal epilepsy |
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| No association between<i>CALHM1</i>and risk for Alzheimer dementia in a Belgian population |
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✓ |
|
Belgian population |
| Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum |
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| Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia |
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✓ |
|
Czech patients |
| Two novel<i>CLCN2</i>mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy |
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| Interaction between PHOX2B and CREBBP mediates synergistic activation: Mechanistic implications of PHOX2B mutants |
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| No association between<i>CALHM1</i>variation and risk of Alzheimer disease |
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| Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes |
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| Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA |
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| The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism |
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| Lynch syndrome deletions in unexpected places |
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| A mutation in the signal sequence of<i>LRP5</i>in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats |
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| Multiple endocrine neoplasia type 2<i>RET</i>protooncogene database: Repository of MEN2-associated<i>RET</i>sequence variation and reference for genotype/phenotype correlations |
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| Deletions removing the last exon of<i>TACSTD1</i>constitute a distinct class of mutations predisposing to Lynch syndrome |
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| Ten novel<i>HMGCL</i>mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria |
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| Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis |
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| Understanding CNVs and disease: Simply not so simple |
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| S-adenosylhomocysteine hydrolase (AHCY) deficiency: Two novel mutations with lethal outcome |
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| Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (<i>HGSNAT</i>) gene |
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| Clinical Genetics & Human Genome Variation: The 2008 Human Genome Variation Society Scientific Meeting |
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| An update on mutations of the<i>SLC39A4</i>gene in acrodermatitis enteropathica |
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| UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:<i>FBN1</i>,<i>FBN2</i>,<i>TGFBR1</i>, and<i>TGFBR2</i> |
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| Accepted article preprints, “In This Issue” featured papers, and updated design for<i>Human Mutation</i>in 2009 |
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| MITOMASTER: A model for Locus-Specific Mutation Databases |
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| Continental SNPs go public: New ancestry informative markers for follow-up association studies |
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| Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques |
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| Cytokines as genetic modifiers in K5<sup>���/���</sup>mice and in human epidermolysis bullosa simplex |
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| Haplotypes of the<i>NR4A2/NURR1</i>gene and cardiovascular disease: The Rotterdam Study |
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| Protein sequences encode safeguards against aggregation |
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| Combining the interactome and deleterious SNP predictions to improve disease gene identification |
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| Steps toward restoring functional dystrophin expression |
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| Planning the Human Variome Project: The Spain report |
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| <i>IBDfinder</i>and<i>SNPsetter</i>: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease |
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| Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense<i>Alu</i>lacking the poly(T)-tail |
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| Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients |
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| Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase |
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| Sharing data between LSDBs and central repositories |
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| Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations |
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| COLdb, a database linking genetic data to molecular function in fibrillar collagens |
|
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| An integrated approach for measuring copy number variation at the<i>FCGR3</i>(CD16) locus |
|
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| <i>IDH1</i>mutations at residue p.R132 (IDH1<sup>R132</sup>) occur frequently in high-grade gliomas but not in other solid tumors |
|
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| Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene |
|
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| Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1 |
|
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|
| Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (<i>GNPTG</i>) gene in patients with mucolipidosis III gamma |
|
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| MedRefSNP: A database of medically investigated SNPs |
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| The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease |
|
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| Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders |
|
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| Screening of ARHSP-TCC patients expands the spectrum of<i>SPG11</i>mutations and includes a large scale gene deletion |
|
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| High-resolution DNA melting analysis: advancements and limitations |
|
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| An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells |
|
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| Fifteen novel mutations in<i>PKLR</i>associated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK |
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| Genomic microarrays in mental retardation: A practical workflow for diagnostic applications |
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| A mutation in the<i>SEPN1</i>selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to<i>SEPN1</i>-related myopathy |
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| Annotated chromosome maps for renal disease |
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| <i>In Vitro</i>studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation |
|
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| SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation |
|
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| <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement |
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| Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes |
|
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| Oncogenic<i>HRAS</i>mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome |
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| Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family |
|
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| Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation |
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| Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease |
|
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| Transcriptional behavior of DMD gene duplications in DMD/BMD males |
|
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| A deep intronic mutation in<i>FGB</i>creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense |
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| Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome |
|
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| Common variation in<i>GRB-associated Binding Protein 2 (GAB2)</i>and increased risk for Alzheimer dementia |
|
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| Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 |
|
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|
| Novel method for genomic analysis of<i>PKD1</i>and<i>PKD2</i>mutations in autosomal dominant polycystic kidney disease |
|
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|
| Emerging themes and new challenges in defining the role of structural variation in human disease |
|
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|
| Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA |
|
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|
| A gene conversion hotspot in the human growth hormone (<i>GH1</i>) gene promoter |
|
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| The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects |
|
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| <i>FOXL2</i>mutations and genomic rearrangements in BPES |
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| Rare mutations of<i>FGFR2</i>causing apert syndrome: identification of the first partial gene deletion, and an<i>Alu</i>element insertion from a new subfamily |
|
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| Glial Cells Missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism |
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| Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines |
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| Intronic variants in<i>BRCA1</i>and<i>BRCA2</i>that affect RNA splicing can be reliably selected by splice-site prediction programs |
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| Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America |
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| A yeast recombination assay to characterize human<i>BRCA1</i>missense variants of unknown pathological significance |
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| Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases |
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| Lipoprotein lipase variants associated with an endophenotype of hypertension: hypertension combined with elevated triglycerides |
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| Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk |
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| Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women |
|
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|
✓ |
|
Chinese women |
| Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations |
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| Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes |
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| Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif |
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| A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation |
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| MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences |
|
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| Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach |
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| Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping |
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