| This Month in Genetics |
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| Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans |
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| This Month in The Journal |
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| Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome |
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| Genetic Association Analysis under Complex Survey Sampling: The Hispanic Community Health Study/Study of Latinos |
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| Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability |
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| MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability |
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| A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137/MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder |
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| Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology |
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| Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome |
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| Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy |
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| MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections |
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| Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration |
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| Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome |
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| Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type |
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| Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases |
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| Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome |
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| Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome |
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| This Month in Genetics |
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| Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes |
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| This Month in The Journal |
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| A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency |
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| Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 |
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| PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent |
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| Cross-Tissue and Tissue-Specific eQTLs: Partitioning the Heritability of a Complex Trait |
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| A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations |
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| Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome |
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| A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity |
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| Molecular Convergence of Neurodevelopmental Disorders |
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| Structural Architecture of SNP Effects on Complex Traits |
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| Biased Gene Conversion Skews Allele Frequencies in Human Populations, Increasing the Disease Burden of Recessive Alleles |
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| Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease |
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| Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations |
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| Effective Genetic-Risk Prediction Using Mixed Models |
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| Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy |
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| Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region |
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| Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders |
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| This Month in Genetics |
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| This Month in The Journal |
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| Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy |
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| Widespread Signals of Convergent Adaptation to High Altitude in Asia and America |
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| Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants |
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| De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies |
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| Genome-wide Scan of 29,141 African Americans Finds No Evidence of Directional Selection since Admixture |
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African Americans |
| Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics |
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| Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants |
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| Identification and Validation of Genetic Variants that Influence Transcription Factor and Cell Signaling Protein Levels |
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| CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation |
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| Mutations in FEZF1 Cause Kallmann Syndrome |
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| Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy |
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| This Month in Genetics |
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| This Month in The Journal |
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| Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency |
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| A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease |
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| Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway |
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| Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome |
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| Gene-Environment Dependence Creates Spurious Gene-Environment Interaction |
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| Mutations in NOTCH1 Cause Adams-Oliver Syndrome |
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| This Month in Genetics |
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| Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy |
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| This Month in The Journal |
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| Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis |
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| Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results |
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✓ |
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European Americans |
| Fine Mapping Major Histocompatibility Complex Associations in Psoriasis and Its Clinical Subtypes |
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| SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy |
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| Identification and Validation of Genetic Variants that Influence Transcription Factor and Cell Signaling Protein Levels |
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| Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders |
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| The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles |
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| ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 |
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| Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy |
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| Rare-Variant Association Analysis: Study Designs and Statistical Tests |
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| This Month in Genetics |
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| Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans |
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| Genome-wide Identification and Characterization of Fixed Human-Specific Regulatory Regions |
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| Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome |
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| Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations |
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| Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits |
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| Examining Variation in Recombination Levels in the Human Female: A Test of the Production-Line Hypothesis |
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| This Month in The Journal |
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| Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life |
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| Effects of Long-Term Averaging of Quantitative Blood Pressure Traits on the Detection of Genetic Associations |
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| Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification |
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| Attitudes of Genetics Professionals Toward the Return of Incidental Results from Exome and Whole-Genome Sequencing |
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| Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia |
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| PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia |
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| Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families |
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| Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations |
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| FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project |
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| Janet Davison Rowley, M.D. (1925–2013) |
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| This Month in Genetics |
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| This Month in The Journal |
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| Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability |
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| An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval |
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| Contrasting X-Linked and Autosomal Diversity across 14 Human Populations |
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| Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH |
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| Utilizing Population Controls in Rare-Variant Case-Parent Association Tests |
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| Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between |
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| Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness |
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| Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome |
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| Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data |
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| This Month in The Journal |
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| Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy |
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| AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking |
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| De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea |
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| This Month in Genetics |
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| Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans |
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| Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment |
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| Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome |
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| Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders |
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| Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland |
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| Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature |
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| Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies |
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| Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome |
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| Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems |
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| Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion |
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| Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 |
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| Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans |
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| Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families |
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| Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB |
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| Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription |
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| Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits |
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| De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy |
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| Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia |
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| This Month in The Journal |
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| This Month in Genetics |
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| Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria |
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| Progesterone Antagonist Therapy in a Pelizaeus-Merzbacher Mouse Model |
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| Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy |
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| De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability |
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| GeMes, Clusters of DNA Methylation under Genetic Control, Can Inform Genetic and Epigenetic Analysis of Disease |
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| Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures |
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| Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage |
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| Fine Mapping Seronegative and Seropositive Rheumatoid Arthritis to Shared and Distinct HLA Alleles by Adjusting for the Effects of Heterogeneity |
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| Genetic Origins of Lactase Persistence and the Spread of Pastoralism in Africa |
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| 2013 William Allan Award Introduction: Aravinda Chakravarti |
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| 2013 Victor A. McKusick Leadership Award Addresses |
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| 2013 Victor A. McKusick Leadership Award Introduction: Kurt and Rochelle Hirschhorn |
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| 2013 Curt Stern Award Address |
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| 2013 Curt Stern Award Introduction: John Moran |
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| 2013 William Allan Award: My Multifactorial Journey |
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| 2013 ASHG Awards and Addresses |
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| Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes |
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| Early Austronesians: Into and Out Of Taiwan |
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| Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth |
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| This Month in The Journal |
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| An Excess of Risk-Increasing Low-Frequency Variants Can Be a Signal of Polygenic Inheritance in Complex Diseases |
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| 2013 Presidential Address: Just Another President’s Speech (but It’s All about You) |
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| This Month in Genetics |
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| A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders |
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| Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia |
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| XYLT1 Mutations in Desbuquois Dysplasia Type 2 |
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| An Expressed Retrogene of the Master Embryonic Stem Cell Gene POU5F1 Is Associated with Prostate Cancer Susceptibility |
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| A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity |
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| Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders |
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| Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci |
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✓ |
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European Ancestry |
| Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication |
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| Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood |
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| Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol |
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| Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways |
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| Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy |
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| Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks |
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Whites and Blacks |
| This Month in Genetics |
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| Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis |
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| The IL-33-ST2L Pathway Is Associated with Coronary Artery Disease in a Chinese Han Population |
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| A Statistical Framework to Guide Sequencing Choices in Pedigrees |
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| ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function |
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| This Month in The Journal |
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| Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects |
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| Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis |
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| A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome |
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| NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability |
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| Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation |
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| A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell |
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| Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans |
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| Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes |
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| Annotating DNA Variants Is the Next Major Goal for Human Genetics |
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| Reponse to de Leeuw and Houge |
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| An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site |
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| Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis |
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| Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome |
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| Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease |
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| Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia |
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| This Month in The Journal |
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| This Month in Genetics |
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| Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy |
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| Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy |
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| Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86 |
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| Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development |
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| Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data |
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| Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy |
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| Mutations in CSPP1 Lead to Classical Joubert Syndrome |
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| A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects |
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| Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation |
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| Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans |
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| Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella |
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| Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures |
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