| Issue Information |
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| Cover Image, Volume 38, Issue 1 |
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| Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated? |
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| SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations |
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| Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes |
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| Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Fo |
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| Human<i>RECQ</i>Helicase Pathogenic Variants, Population Variation and “Missing” Diseases |
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| A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes |
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| Issue Information |
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| Cover Image, Volume 37, Issue 12 |
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| High-Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow |
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| How to Define Pathogenicity, Health, and Disease? |
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| Mutations in<i>TRAPPC11</i>are associated with a congenital disorder of glycosylation |
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| Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of<i>FOXC1</i>Mutations in Patients with Axenfeld-Rieger Syndrome |
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| Functional Characterization and Rescue of a Deep Intronic Mutation in<i>OCRL</i>Gene Responsible for Lowe Syndrome |
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| Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG |
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| Novel<i>BRCA1</i>and<i>BRCA2</i>Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas |
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| Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (<i>MTHFR</i>) Gene Mutation p.Lys215del in a Southern Italian family |
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✓ |
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Southern Italian family |
| The<i>CHRNA5/CHRNA3/CHRNB4</i>Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations |
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| The Human Serotonin Type 3 Receptor Gene (<i>HTR3A-E</i>) Allelic Variant Database |
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| The Importance of Assessment of Function in the Era of <i>In Silico</i>
Analysis |
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| Cover Image, Volume 37, Issue 11 |
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| Issue Information |
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| 11p15 ICR1 Partial Deletions Associated with<i>IGF2/H19</i>DMR Hypomethylation and Silver-Russell Syndrome |
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| Mutation in<i>SSUH2</i>Causes Autosomal-Dominant Dentin Dysplasia Type I |
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| mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications |
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| A Comprehensive Functional Analysis of<i>NTRK1</i>Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) |
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| Investigating the Molecular Mechanisms Behind Uncharacterized Cysteine Losses from Prediction of Their Oxidation State |
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| Deletions Overlapping<i>VCAN</i>Exon 8 Are New Molecular Defects for Wagner Disease |
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| <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects |
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| Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine |
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| Am I My Family's Keeper? Disclosure Dilemmas in Next-Generation Sequencing |
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| WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases |
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| Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies |
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| An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature |
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| Increased Population Risk of<i>AIP</i>-Related Acromegaly and Gigantism in Ireland |
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| BRCA Share: A Collection of Clinical BRCA Gene Variants |
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| Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24<i>MLH1</i>and<i>MSH2</i>Gene Variants |
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| Cover Image, Volume 37, Issue 10 |
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| Issue Information |
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| Cancer Genetics May Aid Diagnostics of Developmental Disorders |
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| Both Generic and Protein-Specific Tolerance Predictors Are Needed |
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| Chondroitin Sulfate<i>N</i>-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity |
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| Actionable Genes, Core Databases, and Locus-Specific Databases |
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| How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era |
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| From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing |
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| ExonImpact: Prioritizing Pathogenic Alternative Splicing Events |
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| Identical<i>NR5A1</i>Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues |
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| Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals with Down Syndrome |
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| Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel |
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| Functional SNP in 3′-UTR MicroRNA-Binding Site of<i>ZNF350</i>Confers Risk for Age-Related Cataract |
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| Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias |
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| Acute Intermittent Porphyria: Predicted Pathogenicity of<i>HMBS</i>Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease |
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| Classification of Missense Variants in<i>XRCC2</i>by Functional Analysis: Implications for Breast Cancer Association Studies |
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| Cover Image, Volume 37, Issue 9 |
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| Silent or Not Silent? Consequences of the Human mt-cyb Polymorphism |
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| Issue Information |
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| Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and Challenges |
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| Base-Biased Evolution of Disease-Associated Mutations in the Human Genome |
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| Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society |
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| Loss of Major DNase I Hypersensitive Sites in Duplicated<i>β-globin</i>Gene Cluster Incompletely Silences<i>HBB</i>Gene Expression |
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| Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia |
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| Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 |
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| Effects of Different Variants in the<i>ENPP1</i>Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 |
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| <i>TMEM231</i>Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family |
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| Identification of a Large<i>DNAJB2</i>Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism |
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| New Directions in Gaucher Disease |
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| Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations |
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| Discovery and Functional Annotation of<i>PRSS1</i>Promoter Variants in Chronic Pancreatitis |
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| Comprehensive Mutation Analysis of<i>PMS2</i>in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome |
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| Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants |
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| Fourth Generation of Next‐Generation Sequencing Technologies: Promise and Consequences |
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| Deep Intronic Sequence Variants in<i>COL2A1</i>Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment |
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| Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating |
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| Mutational Spectrum of<i>MYO15A</i>and the Molecular Mechanisms of DFNB3 Human Deafness |
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| Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation |
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| Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway |
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| Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action |
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| Deep Genetic Connection Between Cancer and Developmental Disorders |
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| MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer |
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| Closing the gap in Genetic Data Analysis pipelines with ASPIREdb |
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| Issue Information |
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| Skewed X-inactivation and Females with Intellectual Disability |
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| Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma |
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| The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions |
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| Cover Image, Volume 37, Issue 8 |
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| Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in<i>ZNF143</i>, Which Codes for a Transcriptional Activator |
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| MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair |
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| Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous<i>FGFR2</i>Mutations Identified by Exome Sequencing |
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| A Role for the Chromatin‐Remodeling Factor<i>BAZ1A</i>in Neurodevelopment |
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| <i>TP53</i>Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data |
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| Biallelic Mutations in
<i>DNM1L</i>
are Associated with a Slowly Progressive Infantile Encephalopathy |
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| <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis |
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| Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma |
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| Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 |
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| Recessive <i>PIGN</i>
Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity |
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| Cover Image, Volume 37, Issue 7 |
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| Super-Transactivation<i>TP53</i>Variant in the Germline of a Family with Li-Fraumeni Syndrome |
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| Ehlers-Danlos Syndrome Caused by Biallelic<i>TNXB</i>Variants in Patients with Congenital Adrenal Hyperplasia |
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| Issue Information |
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| Human Mitochondrial Cytochrome
<i>b</i>
Variants Studied in Yeast: Not All Are Silent Polymorphisms |
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| Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome |
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| The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants |
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| Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in<i>GATM</i> |
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| Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene<i>XRCC2</i> |
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| A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery |
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| Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency |
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| A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers |
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| Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of<i>MAN2B1</i>Missense Mutations |
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| Molecular Genetic Characterization of 151<i>Mut</i>-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in<i>MUT</i> |
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| Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb |
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| Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern |
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| Identification of Intragenic Exon Deletions and Duplication of<i>TCF12</i>by Whole Genome or Targeted Sequencing as a Cause of<i>TCF12</i>-Related Craniosynostosis |
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| Mutations in<i>GAS8</i>, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization |
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| Enrichment of SNPs in Functional Categories Reveals Genes Affecting Complex Traits |
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| Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis |
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| Three Novel Heterozygous Point Mutations of<i>NR3C1</i>Causing Glucocorticoid Resistance |
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| Cover Image, Volume 37, Issue 6 |
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| Issue Information |
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| Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment |
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| Rare Noncoding Mutations Extend the Mutational Spectrum in the
<i>PGAP3</i>
Subtype of Hyperphosphatasia with Mental Retardation Syndrome |
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| Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency |
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| Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease |
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| Cover Image, Volume 37, Issue 5 |
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| Issue Information |
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| Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF |
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| Complex Copy Number Variation of <i>AMY1</i>
does not Associate with Obesity in two East Asian Cohorts |
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|
✓ |
|
East Asian |
| DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System |
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| High Frequency of Pathogenic Rearrangements in <i>SPG11</i>
and Extensive Contribution of Mutational Hotspots and Founder Alleles |
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| A Homozygous<i>Nme7</i>Mutation Is Associated with<i>Situs Inversus Totalis</i> |
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| Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families |
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| Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations |
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| Mucolipidosis III <i>GNPTG</i>
Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase |
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| Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton |
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| 25 Years of<i>Human Mutation</i> |
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| NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine |
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| The Human Variome Project |
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| Variation Interpretation Predictors: Principles, Types, Performance, and Choice |
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| A Mechanistic Link between L1 Retrotransposition and Chromothripsis |
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| Cover Image, Volume 37, Issue 4 |
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| Issue Information |
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| A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains |
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| HGVS Recommendations for the Description of Sequence Variants: 2016 Update |
|
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| Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine |
|
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| ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients |
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| What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases |
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| MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease |
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| LSDBs and How They Have Evolved |
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| Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of <i>BRCA</i>
Gene Unclassified Variants |
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| Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery |
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| Genetics of Phenylketonuria: Then and Now |
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| Human Variome Project Quality Assessment Criteria for Variation Databases |
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| HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme |
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| Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known<i>BRCA</i>Mutations |
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| Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome |
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| Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency |
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| CoNVaDING: Single Exon Variation Detection in Targeted NGS Data |
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| Microdeletions, Rearrangements, and Cancer Susceptibility |
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| Issue Information |
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| Cover Image, Volume 37, Issue 3 |
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| Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease |
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| Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain |
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| UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution |
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| ESHG Plenary Debate 2015: Should Clinical Geneticists have their Genome Sequenced? |
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| Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia |
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| MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform |
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| mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome |
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| Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in<i>CENPF</i> |
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| Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society |
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| Cover Image, Volume 37, Issue 2 |
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| Issue Information |
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| <i>DGAT2</i>Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease |
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| VariOtator, a Software Tool for Variation Annotation with the Variation Ontology |
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| Systematic Analysis of<i>CCNO</i>Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis |
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| Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes |
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| Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination |
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| Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement? |
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| De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability |
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| Variants Within<i>TSC2</i>Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis |
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| ECGene: A Literature‐Based Knowledgebase of Endometrial Cancer Genes |
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| Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing |
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| Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population |
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| MESP1 Mutations in Patients with Congenital Heart Defects |
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| Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro |
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| Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients |
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| Mutations in<i>FLNC</i>are Associated with Familial Restrictive Cardiomyopathy |
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| <i>ADIPOR1</i>Is Mutated in Syndromic Retinitis Pigmentosa |
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| The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes |
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| dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs |
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