| Contents |
|
|
|
|
|
|
|
|
|
| What Identity Crisis? Rapidly Mutating Y-STRs Facilitate Differentiation of Males |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Deciphering the<i>cis</i>-Regulatory Landscape of<i>SOX9</i>Implicated in Craniofacial Development and Isolated Pierre Robin Sequence |
|
|
|
|
|
|
|
|
|
| Regulation of body and brain size: role of MAP4 and other centrosomal proteins |
|
|
|
|
|
|
|
|
|
| WGS and targetted sequencing in acute lymphoblastic leukemia identifies putative enhancer mutation associated with over-expression of a growth factor |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome |
|
|
|
|
|
|
|
|
|
| MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants |
|
|
|
|
|
|
|
|
|
| Cholesterol and Cognition: A Question of Balance? |
|
|
|
|
|
|
|
|
|
| The Fragile X Mouse is Cured, Now for the Patients |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome |
|
|
|
|
|
|
|
|
|
| Variants in<i>CUL4B</i>are Associated with Cerebral Malformations |
|
|
|
|
|
|
|
|
|
| Preliminary Functional Assessment and Classification of<i>DEPDC5</i>Variants Associated with Focal Epilepsy |
|
|
|
|
|
|
|
|
|
| Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants |
|
|
|
|
|
|
|
|
|
| Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant |
|
|
|
|
|
|
|
|
|
| The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing |
|
|
|
|
|
|
|
|
|
| An Augmented<i>ABCA4</i>Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients |
|
|
|
|
|
|
|
|
|
| Simultaneous Analysis of Hundreds of Y-Chromosomal SNPs for High-Resolution Paternal Lineage Classification using Targeted Semiconductor Sequencing |
|
|
|
|
|
|
|
|
|
| Novel<i>SLC5A2</i>Variants Contribute to Renal Glucosuria in Chinese Families: Abnormal Expression and Dysfunction of Variant SLC5A2 |
|
|
|
|
|
|
|
|
|
| Mutations in<i>COA6</i>cause Cytochrome<i>c</i>Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Next Generation Sequencing Identifies a Novel Rearrangement in the<i>HBB</i>Cluster Permitting to-the-Base Characterization |
|
|
|
|
|
|
|
|
|
| Whole-Exome Sequencing Identifies a Variant in<i>TMEM132E</i>Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99 |
|
|
|
|
|
|
|
|
|
| MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation |
|
|
|
|
|
|
|
|
|
| Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations |
|
|
|
|
|
|
|
|
|
| Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene |
|
|
|
|
|
|
|
|
|
| Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On |
|
|
|
|
|
|
|
|
|
| De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy |
|
|
|
|
|
|
|
|
|
| Redefining Mutational Spectra via Updated Locus-specific Databases |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| A Genetic Variant in the Seed Region of miR-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease |
|
|
|
|
|
|
|
|
|
| Identification and Characterization of Aberrant<i>GAA</i>Pre-mRNA Splicing in Pompe Disease Using a Generic Approach |
|
|
|
|
|
|
|
|
|
| Improved Locus-Specific Database for<i>OPA1</i>Mutations Allows Inclusion of Advanced Clinical Data |
|
|
|
|
|
|
|
|
|
| Disruption of the<i>SEMA3D</i>Gene in a Patient with Congenital Heart Defects |
|
|
|
|
|
|
|
|
|
| Capture of Somatic mtDNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain |
|
|
|
|
|
|
|
|
|
| Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations |
|
|
|
|
|
|
|
|
|
| <i>GNAS</i>
Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders |
|
|
|
|
|
|
|
|
|
| Altered<i>GPM6A/M6</i>Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and<i>Drosophila</i> |
|
|
|
|
|
|
|
|
|
| Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (<i>CCDC151</i>) Causes Primary Ciliary Dyskinesia |
|
|
|
|
|
|
|
|
|
| Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs |
|
|
|
|
|
|
|
|
|
| Identification of Pathogenic Mechanisms of<i>COCH</i>Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Dis |
|
|
|
|
|
|
|
|
|
| New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers |
|
|
|
|
|
|
|
|
|
| Mutation Update for UBE3A Variants in Angelman Syndrome |
|
|
|
|
|
|
|
|
|
| Identification of Large<i>NF1</i>Duplications Reciprocal to NAHR-Mediated Type-1<i>NF1</i>Deletions |
|
|
|
|
|
|
|
|
|
| Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability |
|
|
|
|
|
|
|
|
|
| Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies |
|
|
|
|
|
|
|
|
|
| Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics |
|
|
|
|
|
|
|
|
|
| High Frequency of<i>RPL22</i>Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors |
|
|
|
|
|
|
|
|
|
| Mutations in<i>NTRK3</i>Suggest a Novel Signaling Pathway in Human Congenital Heart Disease |
|
|
|
|
|
|
|
|
|
| A New Overgrowth Syndrome is due to Mutations in<i>RNF125</i> |
|
|
|
|
|
|
|
|
|
| A CGG-Repeat Expansion Mutation in<i>ZNF713</i>Causes FRA7A: Association with Autistic Spectrum Disorder in two Families |
|
|
|
|
|
|
|
|
|
| RASopathy-Associated<i>CBL</i>Germline Mutations Cause Aberrant Ubiquitylation and Trafficking of EGFR |
|
|
|
|
|
|
|
|
|
| Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants |
|
|
|
|
|
|
|
|
|
| Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes |
|
|
|
|
|
|
|
|
|
| Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations |
|
|
|
|
|
|
|
|
|
| Functional and Clinical Impact of Novel<i>Tmprss6</i>Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies |
|
|
|
|
|
|
|
|
|
| An Efficient Pipeline for the Generation and Functional Analysis of Human<i>BRCA2</i>Variants of Uncertain Significance |
|
|
|
|
|
|
|
|
|
| Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure |
|
|
|
|
|
|
|
|
|
| A Novel<i>SHOC2</i>Variant in Rasopathy |
|
|
|
|
|
|
|
|
|
| Instability of Trinucleotidic Repeats During Chromatin Remodeling in Spermatids |
|
|
|
|
|
|
|
|
|
| Impaired Development Of Neural-Crest Cell Derived Organs and Intellectual Disability Caused By<i>MED13L</i>Haploinsufficiency |
|
|
|
|
|
|
|
|
|
| Morquio
<scp>A</scp>
Syndrome‐Associated Mutations: A Review of Alterations in the
<i>GALNS</i>
Gene and a New Locus‐Specific Database |
|
|
|
|
|
|
|
|
|
| A Mutation in the<i>CASQ1</i>Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates |
|
|
|
|
|
|
|
|
|
| Mutational and Functional Analysis of the Tumor-Suppressor PTPRD in Human Melanoma |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Addressing Variant Pathogenicity: The TorsinA (<i>TOR1A</i>) Gene as a Model |
|
|
|
|
|
|
|
|
|
| Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐
<scp>C</scp>
o
<scp>A</scp>
Mutase (
<scp>MUT |
|
|
|
|
|
|
|
|
|
| Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase<i>IARS2</i>in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Periphe |
|
|
|
|
|
|
|
|
|
| Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions |
|
|
|
|
|
|
|
|
|
| A New Workflow for Whole-Genome Sequencing of Single Human Cells |
|
|
|
|
|
|
|
|
|
| Genetic and Clinical Analysis of
<i>
<scp>ABCA</scp>
4
</i>
‐Associated Disease in African American Patients |
|
|
|
|
|
|
✓ |
|
African American Patients |
| A Functional SNP Catalog of Overlapping miRNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders |
|
|
|
|
|
|
|
|
|
| Mutation of<i>POC1B</i>in a Severe Syndromic Retinal Ciliopathy |
|
|
|
|
|
|
|
|
|
| Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families |
|
|
|
|
|
|
|
|
|
| Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations |
|
|
|
|
|
|
|
|
|
| Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation |
|
|
|
|
|
|
|
|
|
| Evidence Against<i>RAB40AL</i>Being the Locus for Martin-Probst X-Linked Deafness-Intellectual Disability Syndrome |
|
|
|
|
|
|
|
|
|
| Functional Analyses of Mutations in<i>HEPACAM</i>Causing Megalencephalic Leukoencephalopathy |
|
|
|
|
|
|
|
|
|
| Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome |
|
|
|
|
|
|
|
|
|
| Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins |
|
|
|
|
|
|
|
|
|
| GALT Protein Database: Querying Structural and Functional Features of GALT Enzyme |
|
|
|
|
|
|
|
|
|
| Destruction of DDIT3/CHOP Protein by Wild-Type SPOP but Not Prostate Cancer-Associated Mutants |
|
|
|
|
|
|
|
|
|
| A Rising Titan:<i>TTN</i>Review and Mutation Update |
|
|
|
|
|
|
|
|
|
| Mutations in Exon 1 Highlight the Role of<i>MED12</i>in Uterine Leiomyomas |
|
|
|
|
|
|
|
|
|
| HSF4 Mutation p.Arg116His Found in Age-Related Cataracts and in Normal Populations Produces Childhood Lamellar Cataract in Transgenic Mice |
|
|
|
|
|
|
|
|
|
| RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix |
|
|
|
|
|
|
|
|
|
| Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots |
|
|
|
|
|
|
|
|
|
| Unraveling Cellular Phenotypes of Novel<i>TorsinA/TOR1A</i>Mutations |
|
|
|
|
|
|
|
|
|
| Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A |
|
|
|
|
|
|
|
|
|
| Deletions in the 3′ Part of the<i>NFIX</i>Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome |
|
|
|
|
|
|
|
|
|
| Assessing How Reduced Expression Levels of the Mismatch Repair Genes<i>MLH1</i>,<i>MSH2</i>, and<i>MSH6</i>Affect Repair Efficiency |
|
|
|
|
|
|
|
|
|
| Palindrome-Related Mutations in Neurofibromatosis 1: a New Hot-Spot, at PATRR17 |
|
|
|
|
|
|
|
|
|
| Corneal Dystrophy-Causing SLC4A11 Mutants: Suitability for Folding-Correction Therapy |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats |
|
|
|
|
|
|
|
|
|
| Majority Vote and Other Problems when using Computational Tools |
|
|
|
|
|
|
|
|
|
| Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence |
|
|
|
|
|
|
|
|
|
| Spectrum of the Mutations in Bernard-Soulier Syndrome |
|
|
|
|
|
|
|
|
|
| Ancient and Recent Adaptive Evolution in the Antiviral<i>TRIM22</i>Gene: Identification of a Single-Nucleotide Polymorphism That Impacts TRIM22 Function |
|
|
|
|
|
|
|
|
|
| A Novel in-Frame 18-bp Microdeletion in<i>MT-CYB</i>Causes a Multisystem Disorder with Prominent Exercise Intolerance |
|
|
|
|
|
|
|
|
|
| A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly |
|
|
|
|
|
|
|
|
|
| Genetic Variations and Diseases in UniProtKB/Swiss‐Prot: The Ins and Outs of Expert Manual Curation |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes |
|
|
|
|
|
|
|
|
|
| The Challenge for the Next Generation of Medical Geneticists |
|
|
|
|
|
|
|
|
|
| Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs |
|
|
|
|
|
|
|
|
|
| Mutation Databases for Inherited Renal Disease: Are They Complete, Accurate, Clinically Relevant, and Freely Available? |
|
|
|
|
|
|
|
|
|
| <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies |
|
|
|
|
|
|
|
|
|
| Reducing False-Positive Incidental Findings with Ensemble Genotyping and Logistic Regression Based Variant Filtering Methods |
|
|
|
|
|
|
|
|
|
| Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage |
|
|
|
|
|
|
|
|
|
| Mutation Update for<i>GNE</i>Gene Variants Associated with GNE Myopathy |
|
|
|
|
|
|
|
|
|
| Genetic Screening and Functional Characterization of<i>PDGFRB</i>Mutations Associated with Basal Ganglia Calcification of Unknown Etiology |
|
|
|
|
|
|
|
|
|
| Mutations in<i>ALDH1A3</i>Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families |
|
|
|
|
|
|
|
|
|
| A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form |
|
|
|
|
|
|
|
|
|
| Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the<i>NF1</i>Gene |
|
|
|
|
|
|
|
|
|
| Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in
<scp>Dopa</scp>
‐Responsive Dystonia |
|
|
|
|
|
|
|
|
|
| The<i>MTHFR</i>C677T/c.665C>T Polymorphism and Malaria: A Selective Advantage? |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions |
|
|
|
|
|
|
|
|
|
| The<i>TP53</i>Gene Network in a Postgenomic Era |
|
|
|
|
|
|
|
|
|
| <i>TCIRG1</i>-Associated Congenital Neutropenia |
|
|
|
|
|
|
|
|
|
| Recommendations for Analyzing and Reporting<i>TP53</i>Gene Variants in the High-Throughput Sequencing Era |
|
|
|
|
|
|
|
|
|
| <i>TBC1D24</i>Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss |
|
|
|
|
|
|
|
|
|
| A Dominant Mutation in the Stereocilia-Expressing Gene<i>TBC1D24</i>is a Probable Cause for Nonsyndromic Hearing Impairment |
|
|
|
|
|
|
|
|
|
| Germline<i>TP53</i>Mutations and the Changing Landscape of Li-Fraumeni Syndrome |
|
|
|
|
|
|
|
|
|
| Cantú Syndrome Resulting from Activating Mutation in the<i>KCNJ8</i>Gene |
|
|
|
|
|
|
|
|
|
| Analysis of TP53 Mutation Status in Human Cancer Cell Lines: A Reassessment |
|
|
|
|
|
|
|
|
|
| Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies |
|
|
|
|
|
|
|
|
|
| Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy |
|
|
|
|
|
|
|
|
|
| TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade |
|
|
|
|
|
|
|
|
|
| Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy |
|
|
|
|
|
|
|
|
|
| <i>CDKN2A</i>Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment |
|
|
|
|
|
|
|
|
|
| <i>STK11</i>Domain XI Mutations: Candidate Genetic Drivers Leading to the Development of Dysplastic Polyps in Peutz-Jeghers Syndrome |
|
|
|
|
|
|
|
|
|
| New Clues to the Relationship Between Endoplasmic Reticulum, Lipid Metabolism and Axonopathies |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| The Challenge of Genomic Medicine |
|
|
|
|
|
|
|
|
|
| Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients |
|
|
|
|
|
|
|
|
|
| A Frameshift Mutation in<i>GRXCR2</i>Causes Recessively Inherited Hearing Loss |
|
|
|
|
|
|
|
|
|
| A Dominant STIM1 Mutation Causes Stormorken Syndrome |
|
|
|
|
|
|
|
|
|
| Identification of a Novel 5′ Alternative<i>CFTR</i>mRNA Isoform in a Patient with Nasal Polyposis and<i>CFTR</i>Mutations |
|
|
|
|
|
|
|
|
|
| An<i>FBN1</i>Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases? |
|
|
|
|
|
|
|
|
|
| A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing |
|
|
|
|
|
|
|
|
|
| Pathogenic: Light or Dark Skin? |
|
|
|
|
|
|
|
|
|
| Gene Conversion Violates the Stepwise Mutation Model for Microsatellites in<scp>Y</scp>‐Chromosomal Palindromic Repeats |
|
|
|
|
|
|
|
|
|
| Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks |
|
|
|
|
|
|
|
|
|
| Mutations in the Human<i>UBR1</i>Gene and the Associated Phenotypic Spectrum |
|
|
|
|
|
|
|
|
|
| Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families |
|
|
|
|
|
|
|
|
|
| The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care |
|
|
|
|
|
|
|
|
|
| The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations |
|
|
|
|
|
|
|
|
|
| An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data |
|
|
|
|
|
|
|
|
|
| The Mechanism by which TATA-Box Polymorphisms Associated with Human Hereditary Diseases Influence Interactions with the TATA-Binding Protein |
|
|
|
|
|
|
|
|
|
| Targeted and Genomewide NGS Data Disqualify Mutations in<i>MYO1A</i>, the “<i>DFNA48</i>Gene”, as a Cause of Deafness |
|
|
|
|
|
|
|
|
|
| Increased Resistance to Malaria in Mice with Methylenetetrahydrofolate Reductase (<i>Mthfr</i>) Deficiency Suggests a Mechanism for Selection of the<i>MTHFR</i>677C>T (c.665C>T) Variant |
|
|
|
|
|
|
|
|
|
| A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (<i>AARS</i>) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| Disease-causing Enhancer Variants: A Question of Penetrance |
|
|
|
|
|
|
|
|
|
| Jannovar: A Java Library for Exome Annotation |
|
|
|
|
|
|
|
|
|
| Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium |
|
|
|
|
|
|
|
|
|
| <i>TBC1D7</i>Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease |
|
|
|
|
|
|
|
|
|
| Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge |
|
|
|
|
|
|
|
|
|
| Mutants TP53 p.R273H and p.R273C but not p.R273G Enhance Cancer Cell Malignancy |
|
|
|
|
|
|
|
|
|
| Expanding the Mutational Spectrum of<i>CRLF1</i>in Crisponi/CISS1 Syndrome |
|
|
|
|
|
|
|
|
|
| The Mdm Network and Its Regulation of p53 Activities: A Rheostat of Cancer Risk |
|
|
|
|
|
|
|
|
|
| How the<i>TP53</i>Family Proteins<i>TP63</i>and<i>TP73</i>Contribute to Tumorigenesis: Regulators and Effectors |
|
|
|
|
|
|
|
|
|
| Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the<i>CYBB</i>Gene |
|
|
|
|
|
|
|
|
|
| Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology |
|
|
|
|
|
|
|
|
|
| Locus-Specific Databases in Cancer: What Future in a Post-Genomic Era? The TP53 LSDB paradigm |
|
|
|
|
|
|
|
|
|
| Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline |
|
|
|
|
|
|
|
|
|
| Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society |
|
|
|
|
|
|
|
|
|
| Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients |
|
|
|
|
|
|
|
|
|
| Prediction of the Repeat Domain Structures and Impact of Parkinsonism-Associated Variations on Structure and Function of all Functional Domains of Leucine-Rich Repeat Kinase 2 (LRRK2) |
|
|
|
|
|
|
|
|
|
| TP53 Mutants in the Tower of Babel of Cancer Progression |
|
|
|
|
|
|
|
|
|
| Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients |
|
|
|
|
|
|
|
|
|
| Insights into Wild-Type and Mutant p53 Functions Provided by Genetically Engineered Mice |
|
|
|
|
|
|
|
|
|
| TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia |
|
|
|
|
|
|
|
|
|
| Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the<i>GAMT</i>Gene |
|
|
|
|
|
|
|
|
|
| Human Cell Line Model for Cancer-Associated<i>KRAS</i>Noncoding SNP |
|
|
|
|
|
|
|
|
|
| Contents |
|
|
|
|
|
|
|
|
|
| A Novel Splice Site Mutation in the Noncoding Region of<i>BRCA2</i>: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics |
|
|
|
|
|
|
|
|
|
| Mutant TP53 Posttranslational Modifications: Challenges and Opportunities |
|
|
|
|
|
|
|
|
|
| A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate |
|
|
|
|
|
|
|
|
|
| Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (<i>GNPTAB</i>) |
|
|
|
|
|
|
|
|
|
| <scp>DIAMUND</scp>
: Direct Comparison of Genomes to Detect Mutations |
|
|
|
|
|
|
|
|
|
| Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies |
|
|
|
|
|
|
|
|
|
| Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A |
|
|
|
|
|
|
|
|
|
| Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains |
|
|
|
|
|
|
|
|
|
| Early Frameshift Mutation in<i>PIGA</i>Identified in a Large XLID Family Without Neonatal Lethality |
|
|
|
|
|
|
|
|
|
| An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease |
|
|
|
|
|
|
|
|
|
| Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders |
|
|
|
|
|
|
|
|
|
| Tumor Heterogeneity Revealed by<i>KRAS</i>,<i>BRAF</i>, and<i>PIK3CA</i>Pyrosequencing:<i>KRAS</i>and<i>PIK3CA</i>Intratumor Mutation Profile Differences and Their Therapeutic Implications |
|
|
|
|
|
|
|
|
|
| Heterozygote PCR Product Melting Curve Prediction |
|
|
|
|
|
|
|
|
|
| Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues |
|
|
|
|
|
|
|
|
|
| Novel Dynein<i>DYNC1H1</i>Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development |
|
|
|
|
|
|
|
|
|
| Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface |
|
|
|
|
|
|
|
|
|