| Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation |
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| <i>In Silico</i>Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms |
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| Nonoptical Massive Parallel DNA Sequencing of<i>BRCA1</i>and<i>BRCA2</i>Genes in a Diagnostic Setting |
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| From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss |
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| Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation |
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| A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies |
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| When to WES in the Pediatric Disease Clinic? Now! |
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| A Role for MSH2 in the CGG Repeat Expansion |
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| Contents |
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| Germline Mutations of Inhibins in Early‐Onset Ovarian Epithelial Tumors |
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| Targeted Knock-in of the Polymorphism rs61764370 Does Not Affect<i>KRAS</i>Expression but Reduces let-7 Levels |
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| Enhanced Sensitivity for Detection of Low-Level Germline Mosaic<i>RB1</i>Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing |
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| ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing |
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| A Systematic Large-scale Phenotypic Analysis of de novo and Inherited Copy Number Variation |
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| <i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum |
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| A Homozygous Mutation in the<i><scp>TUB</scp></i>Gene Associated with Retinal Dystrophy and Obesity |
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| Insight into<i>IKBKG</i>/<i>NEMO</i>Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease |
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| Retinitis Pigmentosa Mutations of<i>SNRNP200</i>Enhance Cryptic Splice-Site Recognition |
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| Ciliary Genes<i>TBC1D32</i>/<i>C6orf170</i>and<i>SCLT1</i>are Mutated in Patients with OFD Type IX |
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| Functional Assays for Analysis of Variants of Uncertain Significance in<i>BRCA2</i> |
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| Lake Louise Mutation Detection Meeting 2013: Clinical Translation of Next-Generation Sequencing Requires Optimization of Workflows and Interpretation of Variants |
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| The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations |
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| Variobox: Automatic Detection and Annotation of Human Genetic Variants |
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| <i>MYH9</i>-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations |
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| Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large<i>NF1</i>Deletions Mediated by Nonallelic Homologous Recombination |
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| Discovery and Functional Assessment of Gene Variants in the Vascular Endothelial Growth Factor Pathway |
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| Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs |
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| A 129-kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene<i>SLC2A3</i> |
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| Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel<i>LCA5</i>Mutations and New Genotype-Phenotype Correlations |
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| Analysis of<i>LMNB1</i>Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression |
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| Seeing the Wood for the Trees: A Minimal Reference Phylogeny for the Human Y Chromosome |
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| A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium |
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| Mutations and Polymorphisms in the Human<i>Argininosuccinate Lyase</i>(<i>ASL</i>) Gene |
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| The Mismatch Repair Protein MSH2 is Rate Limiting for Repeat Expansion in a Fragile X Premutation Mouse Model |
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| Variant ATRX Syndrome with Dysfunction of<i>ATRX</i>and<i>MAGT1</i>Genes |
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| High Frequency Strand Slippage Mutations in<i>CTCF</i>in MSI-Positive Endometrial Cancers |
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| Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-Causing<i>POLH</i>Mutations |
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| Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases |
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| Mitochondrial DNA Rearrangements in Health and Disease-A Comprehensive Study |
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| Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31<i>BRCA2</i>Genetic Variants |
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| Severity of X-linked Dyskeratosis Congenita (DKCX) Cellular Defects Is not Directly Related to Dyskerin (<i>DKC1</i>) Activity in Ribosomal RNA Biogenesis or mRNA Translation |
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| Congenital Heart Defects in Patients with Deletions Upstream of<i>SOX9</i> |
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| <i>GALNT12</i>is Not a Major Contributor of Familial Colorectal Cancer Type X |
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| The<i>ETFDH</i>c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency |
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| Genetic and Functional Analyses of<i>ZIC3</i>Variants in Congenital Heart Disease |
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| Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases |
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| An NTD-Associated Polymorphism in the 3′ UTR of MTHFD1L can Affect Disease Risk by Altering miRNA Binding |
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| Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar |
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| De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy |
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| A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases |
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| Targeted Deep Resequencing Identifies<i>MID2</i>Mutation for X-Linked Intellectual Disability with Varied Disease Severity in a Large Kindred from India |
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| Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency |
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| Loss-of-function Mutation in the <i>NOTCH3</i>
Gene: Simply a Polymorphism? |
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| Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia |
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| Whole-Exome Sequencing Identifies a Variant of the Mitochondrial<i>MT-ND1</i>Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome |
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| RRBS-Analyser: A Comprehensive Web Server for Reduced Representation Bisulfite Sequencing Data Analysis |
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| Classifying the Effects of BRCA1 and BRCA2 Variants on Splicing - A Systematic Study |
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| A Health Professional-Centered Approach to Incidental Findings |
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| Topology and Membrane Anchoring of the Lysosomal Storage Disease-Related Protein CLN5 |
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| Clinical Significance of De Novo and Inherited Copy-Number Variation |
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| Evaluation of Rare Variants in the New Fanconi Anemia Gene<i>ERCC4</i>(<i>FANCQ</i>) as Familial Breast/Ovarian Cancer Susceptibility Alleles |
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| Clinical Spectrum of
<scp>LIG</scp>
4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities |
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| Two Novel Mutations in<i>ABHD12</i>: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects |
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| A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies |
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| An Overview and Online Registry of Microvillus Inclusion Disease Patients and their<i>MYO5B</i>Mutations |
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| A Homozygous Mutation in<i><scp>LYRM</scp>7/<scp>MZM</scp>1<scp>L</scp></i>Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex<scp>III</scp>Activ |
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| <scp>UBE</scp>
2
<scp>QL</scp>
1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Supp |
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| GATA4 Loss-of-Function Mutations Underlie Familial Tetralogy of Fallot |
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| Hypomorphic <i>NOTCH3</i>
Alleles Do Not Cause CADASIL in Humans |
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| Small Insertions Are More Deleterious than Small Deletions in Human Genomes |
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| Position of Glycine Substitutions in the Triple Helix of<i>COL6A1</i>,<i>COL6A2</i>, and<i>COL6A3</i>is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies |
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| <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation |
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| Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome |
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| The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia |
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| Functional Analysis of a Large set of <i>BRCA2</i>
exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements |
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| Sensitive Detection of <i>KRAS</i>
Mutations Using Enhanced-<i>ice</i>
-COLD-PCR Mutation Enrichment and Direct Sequence Identification |
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| Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the <i>PMS2</i>
Gene |
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| Clinical Applications of Next-Generation Sequencing: The 2013 Human Genome Variation Society Scientific Meeting |
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| Best Practices for Evaluating Mutation Prediction Methods |
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| Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (<i>DKC1</i>) Gene |
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|
| Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel <i>LCA5</i>
Mutations and New Genotype-Phenotype Correlations |
|
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| Whole Exome Sequencing to Map the Genomic Evolution of Metastatic Prostate Cancer |
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| A Disruptive Paradigm of Genetic Data Sharing and Analysis |
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| Mutation in <i>TTI2</i>
Reveals a Role for Triple T Complex in Human Brain Development |
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| Novel <i>FOXF1</i>
Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins |
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| Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype |
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| Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients |
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| <i>MTO1</i>
Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast |
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| <i>In Vitro</i>Secretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models |
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| <i>NF1</i>
Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience |
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| Characterization of SLC26A9 in Patients with CF-Like Lung Disease |
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| Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity |
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| The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era |
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| β-Thalassemia Due to Intronic LINE-1 Insertion in the<i>β-Globin</i>Gene (<i>HBB</i>): Molecular Mechanisms Underlying Reduced Transcript Levels of the<i>β-Globin<sub>L1</sub></i>Allele |
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| Novel Mutations in<i>SCO1</i>as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis |
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| Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays |
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| Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing |
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| CPAP: Cancer Panel Analysis Pipeline |
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| Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines |
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| IL-12Rβ1 Deficiency: Mutation Update and Description of the<i>IL12RB1</i>Variation Database |
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| In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs |
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| Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in<i>C19orf12</i> |
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| Non-Coding Sequence Variation Effects on Tissue-Specific Gene Expression |
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| Understanding Tandem Base Substitutions |
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| dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations |
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| Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by<i>PAPSS2</i>Mutations |
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| The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in<i>ADAMTS18</i> |
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| Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals |
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| Mutation in the<i>SYNJ1</i>Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism |
|
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| The Sac1 Domain of
<i>
<scp>SYNJ</scp>
1
</i>
Identified Mutated in a Family with Early‐Onset Progressive
<scp>P</scp>
|
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| Founder Mutation in<i>RSPH4A</i>Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia |
|
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|
✓ |
|
Hispanic descent |
| Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues |
|
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| Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics |
|
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| Different Molecular Consequences of Frameshift Mutations in the<i>ANTXR2</i>Gene |
|
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| <scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss |
|
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| Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories |
|
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| Next Generation Genetic Testing for Retinitis Pigmentosa |
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| Accurately Identifying Low-Allelic Fraction Variants in Single Samples with Next-Generation Sequencing: Applications in Tumor Subclone Resolution |
|
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| Genetic Abnormalities in<i>FOXP1</i>Are Associated with Congenital Heart Defects |
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| Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data |
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| Functional Interaction Between SNPs and Microsatellite in the Transcriptional Regulation of Insulin-Like Growth Factor 1 |
|
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| Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of<i>FKBP10</i> Mutations |
|
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| Rare Nonconservative<i>LRP6</i>Mutations Are Associated with Metabolic Syndrome |
|
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| Novel<i>CLCNKB</i>Mutations Causing Bartter Syndrome Affect Channel Surface Expression |
|
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| New Tools of the Trade for Large-scale Collaborative Genome Analysis |
|
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| HAPLOFIND: A New Method for High-Throughput mtDNA Haplogroup Assignment |
|
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| Human “Monogenic” Disease Gene Discovery: When Models of Inheritance Go Wrong |
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| Pathogenic Mitochondrial t
<scp>RNA</scp>
Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease |
|
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| Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing |
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| Synonymous Mutations in<i>RNASEH2A</i>Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi-Goutières Syndrome |
|
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| 0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice |
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| Mutations in Extracellular Matrix Genes<i>NID1</i>and<i>LAMC1</i>Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles |
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| Chimeric Negative Regulation of<i>p14ARF</i>and<i>TBX1</i>by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency |
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| Allele-Specific Expression at the<i>RET</i>Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease |
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| Functional Analysis of a De Novo<i>ACTB</i>Mutation in a Patient with Atypical Baraitser-Winter Syndrome |
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| Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the<i>DMD</i>Gene |
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| Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypo |
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| The UBIAD1 Prenyltransferase Links Menaquinone-4 Synthesis to Cholesterol Metabolic Enzymes |
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| Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer |
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| PhenoTips: Patient Phenotyping Software for Clinical and Research Use |
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| Analysis of
<i>
<scp>
<i>LMNB</i>
</scp>
1
</i>
Duplications in Autosomal Dominant Leukodystrophy Provides |
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| Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool |
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| Analysis of Sequence Variation Underlying Tissue-specific Transcription Factor Binding and Gene Expression |
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| High-Resolution Survey in Familial Parkinson Disease Genes Reveals Multiple Independent Copy Number Variation Events in PARK2 |
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| Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease |
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| Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice |
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| A Polymorphism Affecting<scp>MYB</scp>Binding within the Promoter of the<i>PDCD4</i>Gene is Associated with Severe Asthma in Children |
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| <i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation |
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| Correction of Cystathionine β-Synthase Deficiency in Mice by Treatment with Proteasome Inhibitors |
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| Mutations in the COPII Vesicle Component Gene<i>SEC24B</i>are Associated with Human Neural Tube Defects |
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| Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer |
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| Prioritization of Genetic Variants in the micro
<scp>RNA</scp>
Regulome as Functional Candidates in Genome‐Wide Association Studies |
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| Novel strategies for classifying splice-site variants of unknown clinical significance in<i>CFTR</i> |
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| RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs |
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| A Rare Motor Neuron Deleterious Missense Mutation in the<i>DPYSL3</i>(<i>CRMP4</i>) Gene is Associated with ALS |
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| Online Biomedical Resources for Malaria‐Related Red Cell Disorders |
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| Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics |
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| Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation |
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| <i>TARDBP</i>and<i>FUS</i>Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update |
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| Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria |
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| A Missense Mutation in the Sodium Channel β2 Subunit Reveals<i>SCN2B</i>as a New Candidate Gene for Brugada Syndrome |
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| Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations |
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| RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling |
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| In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy |
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| Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction |
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| Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance |
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| Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance |
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| Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data |
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| How to Assess Causality of<i>TMPRSS6</i>Mutations? |
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| Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy |
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| Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain |
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| Deficiency of the Cyclin‐Dependent Kinase Inhibitor,
<scp>CDKN</scp>
1
<scp>B</scp>
, Results in Overgrowth and Neurodevelopmental Delay |
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| DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics |
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| A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing |
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| Prioritization of Retinal Disease Genes: An Integrative Approach |
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| Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in<i>ATL1</i>Blurs Autosomal Dominant Inheritance of Spastic Paraplegia |
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| Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome |
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| EEC- and ADULT-Associated<i>TP63</i>Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences |
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| Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects |
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| GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis |
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| The Spectrum of<i>ELANE</i>Mutations and their Implications in Severe Congenital and Cyclic Neutropenia |
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| Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting |
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| Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants |
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| Allele-Specific Expression at the<i>RET</i>Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease |
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| Human Variation 2.0: Using GWAS to Probe Intermediate Phenotypes |
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| Long-Standing Balancing Selection in the<i>THBS</i><i>4</i>Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease |
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| Mutation Spectrum in<i>RAB</i><i>3</i><i>GAP</i><i>1</i>,<i>RAB</i><i>3</i><i>GAP</i><i>2</i>, and<i>RAB</i><i>18</i>and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome |
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| Combined Computational-Experimental Analyses of<i>CFTR</i>Exon Strength Uncover Predictability of Exon-Skipping Level |
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| Identification of Functional<i>cis</i>-regulatory Polymorphisms in the Human Genome |
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| Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long-Range PCR in the Single-Cell Assay |
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| Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The<i>BRCA1</i>/<i>BRCA2</i>Example |
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| Novel CYP2B6 Enzyme Variants in a Rwandese Population: Functional Characterization and Assessment of In Silico Prediction Tools |
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| Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease) |
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| Combined
<scp>NGS</scp>
Approaches Identify Mutations in the Intraflagellar Transport Gene
<i>IFT140</i>
in Skeletal Ciliopathies with Early Progressive |
|
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| Identification of Novel Mutations Confirms<i>PDE4D</i>as a Major Gene Causing Acrodysostosis |
|
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|
| Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project |
|
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|
| A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the<i>CFTR</i>Gene |
|
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| Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy |
|
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|
| An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example |
|
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|
| <scp>P</scp>
heno
<scp>DB</scp>
: A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features |
|
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|
| Making Sense of Intratumor Genetic Heterogeneity: Altered Frequency of Androgen Receptor CAG Repeat Length Variants in Breast Cancer Tissues |
|
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|
| Heterozygous Genetic Variations of<i>FOXP3</i>in Xp11.23 Elevate Breast Cancer Risk in Chinese Population via Skewed X-Chromosome Inactivation |
|
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|
| <scp>DIP</scp>
–
<scp>STR</scp>
: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures |
|
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| Genotyping by Induced Förster Resonance Energy Transfer (iFRET) Mechanism and Simultaneous Mutation Scanning |
|
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|
| Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes |
|
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|
| A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta |
|
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|
| Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in<i>MBTPS2</i> |
|
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|
| Novel Germline<i>GJA5</i>/Connexin40 Mutations Associated with Lone Atrial Fibrillation Impair Gap Junctional Intercellular Communication |
|
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|
|
| Prediction of Mutant mRNA Splice Isoforms by Information Theory-Based Exon Definition |
|
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|
| Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia |
|
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|
| Welander Distal Myopathy Caused by an Ancient Founder Mutation in<i>TIA1</i>Associated with Perturbed Splicing |
|
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|
|
| HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research |
|
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|
| A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family |
|
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|
|
|
|
|
|
| <scp>RNA</scp>
snp: Efficient Detection of Local
<scp>RNA</scp>
Secondary Structure Changes Induced by
<scp>SNP</scp>
s |
|
|
|
|
|
|
|
|
|
| Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex |
|
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|
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|
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|
|
| Modeling Tumor Progression by the Sequential Introduction of Genetic Alterations into the Genome of Human Normal Cells |
|
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|
|
| An Overview and Update of<i>ATP7A</i>Mutations Leading to Menkes Disease and Occipital Horn Syndrome |
|
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|
|
|
|
|
|
| A Genome-Wide Assessment of Variability in Human Serum Metabolism |
|
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|
|
| AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening |
|
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|
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|
|
| Comparative Analysis and Functional Mapping of
<i>SACS</i>
Mutations Reveal Novel Insights into Sacsin Repeated Architecture |
|
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|
|
|
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|
|
| Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in<i>OXCT1</i>Gene: Study on Intermediates of<i>OXCT1</i>Transcripts in Fibroblasts |
|
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|
|
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|
|
| <i>RP1L1</i>Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy |
|
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|
|
|
|
|
|
|
| Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of<i>GNAS</i>Inactivating Mutations |
|
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|
|
| Mitochondrial Complex III Deficiency Caused by a Homozygous<i>UQCRC2</i>Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation |
|
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|
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|
|
| Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms |
|
|
|
|
|
|
|
|
|
| Delineation of the Clinical, Molecular and Cellular Aspects of Novel
<i>JAM</i>
<i>3</i>
Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the |
|
|
|
|
|
|
|
|
|
| Novel
<i>XPG</i>
(
<i>ERCC5</i>
) Mutations Affect
<i>DNA</i>
Repair and Cell Survival after Ultraviolet but not Oxidative Stres |
|
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|
|
|
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|
| Cancer Risks for<i>MLH</i><i>1</i>and<i>MSH</i><i>2</i>Mutation Carriers |
|
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|
|
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|
|
| Identification of a Novel Oligomerization Disrupting Mutation in<i>CRYΑA</i>Associated with Congenital Cataract in a South Australian Family |
|
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|
|
| Drastic Effect of Germline<i>TP53</i>Missense Mutations in Li-Fraumeni Patients |
|
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|
|
| Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome |
|
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|
| Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis |
|
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|
| Response to: Statistical Analysis of Missense Mutation Classifiers |
|
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|
| Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing |
|
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|
| A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats |
|
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| <i>MT-ND5</i>Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations |
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