| Issue Information |
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| The Genome Editing Revolution in Livestock Marches on |
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| Cover Image, Volume 37, Issue 1 |
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| Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease |
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| Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses |
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| <i>MCM3AP</i>and<i>POMP</i>Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child |
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| <i>HMOX2</i>Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans |
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| Identification and Characterization of a Novel Constitutional<i>PIK3CA</i>Mutation in a Child Lacking the Typical Segmental Overgrowth of “<i>PIK3CA</i>-Related Overgrowth Spectrum” |
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| PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly |
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| Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6 |
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| A Newly Identified Missense Mutation in<i>FARS2</i>Causes Autosomal-Recessive Spastic Paraplegia |
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| Serial Hunt for Ciliary Genes in Complex Syndromes |
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| Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides |
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| Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation |
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| A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function |
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| Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population |
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| TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome |
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| Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations |
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| Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update |
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| SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants |
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| Alternative Splicing in the Human<i>PMP22</i>Gene: Implications in CMT1A Neuropathy |
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| From Whole Gene Deletion to Point Mutations of<i>EP300</i>-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks |
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| A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease |
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| A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders |
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| Identification and Functional Characterization of<i>CLCN1</i>Mutations Found in Nondystrophic Myotonia Patients |
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| Diagnostic Exome Sequencing Identifies a Novel Gene,<i>EMILIN1</i>, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease |
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| Mutation Update of<i>ARSA</i>and<i>PSAP</i>Genes Causing Metachromatic Leukodystrophy |
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| Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1 |
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| Purifying Selection of mtDNA and the Shape of Human Evolution |
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| Contents |
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| Efficient Generation of Gene-Modified Pigs Harboring Precise Orthologous Human Mutation via CRISPR/Cas9-Induced Homology-Directed Repair in Zygotes |
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| wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases |
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| Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel) |
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| Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus |
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| Mutation Update for<i>COL2A1</i>Gene Variants Associated with Type II Collagenopathies |
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| Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease |
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| Putative Prostate Cancer Risk SNP in an Androgen Receptor‐Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites |
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| Rare Variants in<i>PLD3</i>Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort |
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✓ |
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European Consortium Cohort |
| Variants in<i>TRIM44</i>Cause Aniridia by Impairing<i>PAX6</i>Expression |
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| Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease |
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| Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine |
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| Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects |
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| Performance of In Silico Tools for the Evaluation of<i>UGT1A1</i>Missense Variants |
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| Contents |
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| Mitigating False-Positive Associations in Rare Disease Gene Discovery |
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| Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability |
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| Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks |
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| Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2 |
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| Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of
<i>NMNAT1</i> |
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| Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i> |
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| <i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation |
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| Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association |
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| A Novel Mutation in<i>RPL10</i>(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia |
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| Beckwith-Wiedemann Syndrome Revisited |
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| Contents |
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| Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery |
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| The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery |
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| Expanding the Molecular and Clinical Phenotype of SSR4-CDG |
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| The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles |
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| <i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections |
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| <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies |
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| Fine Time Scaling of Purifying Selection on Human Nonsynonymous mtDNA Mutations Based on the Worldwide Population Tree and Mother-Child Pairs |
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| A New Homozygous<i>IGF1R</i>Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome |
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| PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases |
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| Participant-Driven Matchmaking in the Genomic Era |
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| Novel<i>COCH</i>p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion |
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| The Genomic Birthday Paradox: How Much Is Enough? |
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| Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts |
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| Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER |
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| Matching Two Independent Cohorts Validates<i>DPH1</i>as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies |
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| Data Sharing in the Undiagnosed Diseases Network |
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| Novel Homozygous Mutation of the Internal Translation Initiation Start Site of<i>VHL</i>is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tu |
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| GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene |
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| Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients |
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| Contents |
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| Novel<i>COL2A1</i>Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type |
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| GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge |
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| Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights into the Action of Translesion Synthesis DNA Polymerases |
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| High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation |
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| Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome |
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| Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform |
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| GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Varia |
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| <i>POLD1</i>Germline Mutations in Patients Initially Diagnosed with Werner Syndrome |
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| Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population |
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| In Memoriam: Richard G.H. Cotton (1940-2015) |
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| <i>FAS</i>Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese |
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✓ |
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Han Chinese |
| Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate |
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| <i>WDR73</i>Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease |
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| Evaluation of Hybridization Capture Versus Amplicon‐Based Methods for Whole‐Exome Sequencing |
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| Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “
<i>de novo</i>
”
<i>SCN1A</i>
Mutations in Children with Dravet Syndrome |
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| 15q Maternal Duplication and Neurodevelopmental Disorders;<i>UBE3A</i>is the Key |
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| Contents |
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| <i>KIAA0586</i>is Mutated in Joubert Syndrome |
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| Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations |
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| Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization |
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| Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in<i>ALMS1</i>and<i>DYSF</i> |
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| Somatic Mutations in Catalytic Core of<i>POLK</i>Reported in Prostate Cancer Alter Translesion DNA Synthesis |
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| Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data |
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| Microdeletions of<i>ELP4</i>Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation |
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| The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein |
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| Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas |
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| Contents |
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| Getting It Right with Lynch Syndrome Genetic and Phenotypic Diagnosis |
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| Loss of Function Variants in Human<i>PNPLA8</i>Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse |
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| A Mitochondrial Translation Defect Identified by Whole-Exome Sequencing Expands the Phenotypic Spectrum for<i>MARS2</i> |
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| Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations |
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| Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions |
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| Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in<i>COL1A1</i>, Which Encodes the proα1(I) Chains of Type I Procollagen |
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| The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic Identity |
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| Molecular Diversity and Associated Phenotypic Spectrum of Germline<i>CBL</i>Mutations |
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| Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin |
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| A Novel<i>KCNJ13</i>Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16) |
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| McArdle Disease: Update of Reported Mutations and Polymorphisms in the<i>PYGM</i>Gene |
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| Further Confirmation of Germline Glioma Risk Variant rs78378222 in<i>TP53</i>and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data |
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| Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes |
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| The KM-parkin-DB: A Sub-set<i>MutationView</i>Database Specialized for<i>PARK2</i>(PARKIN) Variants |
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| Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1 |
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| An Interdomain<i>KCNH2</i>Mutation Produces an Intermediate Long QT Syndrome |
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| Skipping Skin Disease |
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| The Importance of Proper Testing of Predictor Performance |
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| Contents |
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| 15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes |
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| Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization |
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| A Gain-of-Function Mutation in<i>NALCN</i>in a Child with Intellectual Disability, Ataxia, and Arthrogryposis |
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| <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies |
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| Alström Syndrome: Mutation Spectrum of<i>ALMS1</i> |
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| The Ultimate Guide to DMD Variants |
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| Shaken, Not Stirred Collagen in Corneal Dystrophy |
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| Contents |
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| Hemizygosity for<i>SMCHD1</i>in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome |
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| Functional Complementation Assay for 47
<i>MUTYH</i>
Variants in a
<i>MutY</i>
‐Disrupted
<i>Escherichia Coli</i>
Strain |
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| <i>LMNA</i>Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging |
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| Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase |
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| A New Spin on Digenic Inheritance: Retrotransposition in Rotor Syndrome |
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| Towards Replacement of Sanger Sequencing with Next-Generation Sequencing in the Clinical Laboratory |
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| Contents |
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| Response to: 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 In |
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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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| Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? |
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| Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop |
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| Lynch Syndrome Associated with Two
<i>MLH1</i>
Promoter Variants and Allelic Imbalance of
<i>MLH1</i>
Expression |
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| Heterozygous Deletion of<i>FOXA2</i>Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia |
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| amamutdb.no: A Relational Database for<i>MAN2B1</i>Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis |
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| The<i>SCN1A</i>Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype |
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| Loss-of-Function<i>FANCL</i>Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association |
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| Novel, Compound Heterozygous, Single-Nucleotide Variants in<i>MARS2</i>Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss |
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| Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients |
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| Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the<i>ITGA2B</i>and<i>ITGB3</i>Genes in a Large International Cohort |
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| Update and Mutational Analysis of<i>SLC20A2</i>: A Major Cause of Primary Familial Brain Calcification |
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| The Transcription-Coupled Repair Protein ERCC6/CSB Also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation |
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| GeneYenta: A PhenotypeBased Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation |
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| Oncotator: Cancer Variant Annotation Tool |
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| Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis |
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| Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain |
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| Heterozygous Mutations in Natriuretic Peptide Receptor-B (<i>NPR2</i>) Gene as a Cause of Short Stature |
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| The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity |
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| New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene |
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| mit-o-matic: A Comprehensive Computational Pipeline for Clinical Evaluation of Mitochondrial Variations from Next-Generation Sequencing Datasets |
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| Mutations in Collagen, Type XVII, Alpha 1 (<i>COL17A1</i>) Cause Epithelial Recurrent Erosion Dystrophy (ERED) |
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| The ARVD/C Genetic Variants Database: 2014 Update |
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| wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders |
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| On Human Disease-Causing Amino Acid Variants: Statistical Study of Sequence and Structural Patterns |
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| Exon-Specific U1s Correct SPINK<i>5</i>Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element |
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| AmpliVar: Mutation Detection in High-Throughput Sequence from Amplicon-Based Libraries |
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| <i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes |
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| Contents |
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| Navigating through Genomics Data to Deliver Testable Predictions |
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| Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics |
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| Shotgun Approach to Functional Annotation of Genes |
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| 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 |
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| Mutations in<i>TAX1BP3</i>Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia |
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| Identification of Variants in the 4q35 Gene<i>FAT1</i>in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype |
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| The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations |
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| Germline & Somatic Mosaicism: The 2014 Annual Scientific Meeting of the Human Genome Variation Society |
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| Heterozygous Triplication of Upstream Regulatory Sequences Leads to Dysregulation of Matrix Metalloproteinase 19 in Patients with Cavitary Optic Disc Anomaly |
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| Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype |
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| Gene Conversion Between Cationic Trypsinogen (<i>PRSS1</i>
) and the Pseudogene Trypsinogen 6 (<i>PRSS3P2</i>
) in Patients with Chronic Pancreatitis |
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| Can We Afford to Sequence Every Newborn Baby's Genome? |
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| Rare <i>LRP6</i>
Variants Identified in Spina Bifida Patients |
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| Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations |
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| Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion Ratio |
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| Somatic MMR Gene Mutations as a Cause for MSI-H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients |
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| Functional Analysis of<i>FOXE3</i>Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease |
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| Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies |
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| Loss of Function Variants in Human <i>PNPLA8</i>
Encoding Calcium-Independent Phospholipase A<sub>2</sub>
γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse |
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| Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies |
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| Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice |
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| Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability |
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| Mutations in <i>CCDC11</i>
, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes <i>Situs Inversus</i>
Due to Dysmotility of Monocilia in the Left-Right Organizer |
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| Genome Annotation by Shotgun Inactivation of a Native Gene in Hemizygous Cells: Application to<i>BRCA2</i>with Implication of Hypomorphic Variants |
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| Single Nucleotide Differences (SNDs) Continue to Contaminate the dbSNP Database With Consequences for Human Genomics and Health |
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| High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders |
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| Identification and<i>In Vivo</i>Functional Characterization of Novel Compound Heterozygous<i>BMP1</i>Variants in Osteogenesis Imperfecta |
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| Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family |
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| ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome |
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| Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>) |
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| VariSNP, A Benchmark Database for Variations From dbSNP |
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| Functional Classification of
<i>BRCA2</i>
DNA Variants by Splicing Assays in a Large Minigene with 9 Exons |
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| ProKinO: A Unified Resource for Mining the Cancer Kinome |
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| Vanno: A Visualization-Aided Variant Annotation Tool |
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