| This Month in The Journal |
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| The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine |
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| This Month in Genetics |
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| Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling |
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| Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome |
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| Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination |
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| Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in cis-eQTL Signals |
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| Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing |
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| PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome |
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| Somatic Mutations throughout the Entire Mitochondrial Genome Are Associated with Elevated PSA Levels in Prostate Cancer Patients |
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| Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling |
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| Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections |
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| Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia |
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| Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation |
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| Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy |
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| Population Differences in the Rate of Proliferation of International HapMap Cell Lines |
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| Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems |
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| Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores |
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| Estimators of the Human Effective Sex Ratio Detect Sex Biases on Different Timescales |
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| A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts |
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| Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency |
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| Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma |
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| Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa |
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| This Month in The Journal |
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| A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes |
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| Recollections from 60 ASHG Meetings |
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| This Month in Genetics |
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| Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1 |
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| Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes |
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| Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23 |
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| A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia |
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| Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections |
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| To Identify Associations with Rare Variants, Just WHaIT: Weighted Haplotype and Imputation-Based Tests |
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| Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia |
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| MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes |
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| SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System |
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| Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene |
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| Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23 |
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| Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII |
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| Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy |
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| Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia |
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| A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases |
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| Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex |
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| De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment |
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| Identification of Copy Number Variation Hotspots in Human Populations |
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| Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy |
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| Exome Sequencing in Brown-Vialetto-Van Laere Syndrome |
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| Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy |
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| This Month in Genetics |
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| This Month in The Journal |
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| Response to Johnson et al. |
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| Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta |
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| Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I |
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| FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? |
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| Understanding FDA Regulation of DTC Genetic Tests within the Context of Administrative Law |
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| BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing |
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| Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome |
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| Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1 |
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| Adiponectin Concentrations: A Genome-wide Association Study |
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| Inference of Unexpected Genetic Relatedness among Individuals in HapMap Phase III |
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| Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs |
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| WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome |
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| A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness |
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| A Guide to Genetic Counseling, 2nd Edition |
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| This Month in The Journal |
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| A Locus on Chromosome 1p36 Is Associated with Thyrotropin and Thyroid Function as Identified by Genome-wide Association Study |
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| Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy |
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| This Month in Genetics |
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| Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene |
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| Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans |
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| Genetic Self Knowledge and the Future of Epidemiologic Confounding |
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| BOOST: A Fast Approach to Detecting Gene-Gene Interactions in Genome-wide Case-Control Studies |
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| Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome |
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| Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications |
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| Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts |
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| Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III |
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| A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 |
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| Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism |
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| A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa |
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| Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria |
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| TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy |
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| Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record |
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| Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa |
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| Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa |
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| Genetic Self Knowledge and the Future of Epidemiologic Confounding |
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| Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes |
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| Mutations in HPSE2 Cause Urofacial Syndrome |
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| This Month in Genetics |
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| Response to Shaheen et al. |
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| FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? |
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| This Month in The Journal |
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| Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease |
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| Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry |
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| Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems |
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| Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome |
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| Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome |
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| Microdeletions of 3q29 Confer High Risk for Schizophrenia |
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| Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome |
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| A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) |
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| Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa |
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| Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome |
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| Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase |
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| Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability |
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| Epigenetic Regulation of Human γ-Glutamyl Hydrolase Activity in Acute Lymphoblastic Leukemia Cells |
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| Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome |
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| This Month in The Journal |
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| This Month in Genetics |
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| Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype |
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| Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome |
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| Spoiling the Whole Bunch: Quality Control Aimed at Preserving the Integrity of High-Throughput Genotyping |
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| Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines |
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| Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene |
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| A Versatile Gene-Based Test for Genome-wide Association Studies |
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| Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4 |
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| Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome |
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| Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability |
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| Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4 |
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| Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect |
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| Population Genetic Structure of the People of Qatar |
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| X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins |
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| Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta |
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| Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82 |
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| Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51 |
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| Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13 |
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| IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma |
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| The Woman Who Walked into the Sea: Huntington's and the Making of a Genetic Disease |
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| Female-to-Male Breeding Ratio in Modern Humans—an Analysis Based on Historical Recombinations |
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| Response to Lohmueller et al. |
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| This Month in Genetics |
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| Pooled Association Tests for Rare Variants in Exon-Resequencing Studies |
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| Sex-Averaged Recombination and Mutation Rates on the X Chromosome: A Comment on Labuda et al. |
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| This Month in The Journal |
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| Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome |
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| Insights into Colon Cancer Etiology via a Regularized Approach to Gene Set Analysis of GWAS Data |
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| Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry |
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| Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome |
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| Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies |
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| Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection |
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| Mutations in HPSE2 Cause Urofacial Syndrome |
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| GJC2 Missense Mutations Cause Human Lymphedema |
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| A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events |
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| Principal-Component Analysis for Assessment of Population Stratification in Mitochondrial Medical Genetics |
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| Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene |
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| Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay |
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| Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability |
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| Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans |
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| Response to Graffelman: Tests of Hardy-Weinberg Equilibrium |
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| Tuba8 Is Expressed at Low Levels in the Developing Mouse and Human Brain |
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| Pooled Association Tests for Rare Variants in Exon-Resequencing Studies |
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| This Month in The Journal |
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| The Number of Markers in the HapMap Project: Some Notes on Chi-Square and Exact Tests for Hardy-Weinberg Equilibrium |
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| Inferring Genetic Ancestry: Opportunities, Challenges, and Implications |
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| Response to Braun et al. |
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| Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies |
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| This Month in Genetics |
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| A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa |
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| Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia |
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| A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss |
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| Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate |
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| Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies |
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| Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability |
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| Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood |
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| Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71 |
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| Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa |
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| Gene Expression and Genetic Variation in Response to Endoplasmic Reticulum Stress in Human Cells |
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| Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes |
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| Response to Fusco et al. |
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| This Month in Genetics |
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| A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1 |
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| The LCR at the IKBKG Locus Is Prone to Recombine |
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| PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment |
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| This Month in The Journal |
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| LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome |
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| A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis |
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| Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture |
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✓ |
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Khoisan; Coloured Population |
| Detecting Coevolution through Allelic Association between Physically Unlinked Loci |
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| Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia |
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| Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta |
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| Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and Humans |
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| Evidence for Polygenic Susceptibility to Multiple Sclerosis—The Shape of Things to Come |
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| Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor |
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| Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record |
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| Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture |
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✓ |
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Khoisan; Coloured population (South African 'Coloured' population) |
| On Genome-wide Association Studies for Family-Based Designs: An Integrative Analysis Approach Combining Ascertained Family Samples with Unselected Controls |
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| Integrating Pathway Analysis and Genetics of Gene Expression for Genome-wide Association Studies |
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| Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture |
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| Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction |
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| High-Resolution Detection of Identity by Descent in Unrelated Individuals |
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| Common Variants of Large Effect in F12, KNG1, and HRG Are Associated with Activated Partial Thromboplastin Time |
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| A Variant in LIN28B Is Associated with 2D:4D Finger-Length Ratio, a Putative Retrospective Biomarker of Prenatal Testosterone Exposure |
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| 2009 William Allan Award Address: Life in The Sandbox: Unfinished Business |
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| Genetic Control of Individual Differences in Gene-Specific Methylation in Human Brain |
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| This Month in Genetics |
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| 2009 Presidential Address: Beyond Darwin? Evolution, Coevolution, and the American Society of Human Genetics |
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| 2009 ASHG Awards and Addresses |
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| Response to Wilson et al. |
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| Response to Liu et al. |
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| A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis |
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| No Evidence of Association of Heterozygous NTF4 Mutations in Patients with Primary Open-Angle Glaucoma |
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| 2009 William Allan Award Introduction: Huntington F. Willard |
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| 2008 Presidential Address: Principia Genetica: Our Future Science |
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| Evolutionary History of the ADRB2 Gene in Humans |
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| About the X-to-Y Gene Conversion Rate |
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| Response to Cruciani et al. |
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| Regulation of Gene Expression by Small RNAs |
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| This Month in The Journal |
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| A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1 |
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| Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution |
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| Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities |
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| Using Principal Components of Genetic Variation for Robust and Powerful Detection of Gene-Gene Interactions in Case-Control and Case-Only Studies |
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| Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome) |
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| Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 |
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| DNA Methylome of Familial Breast Cancer Identifies Distinct Profiles Defined by Mutation Status |
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| Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta |
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| Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS |
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| Female-to-Male Breeding Ratio in Modern Humans—an Analysis Based on Historical Recombinations |
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| Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease |
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| Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79 |
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| Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E |
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| Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss |
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| Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy |
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| Systems Genetics Analysis of Gene-by-Environment Interactions in Human Cells |
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| Acute Infantile Liver Failure Due to Mutations in the TRMU Gene |
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| Genetic Dilemmas and the Right to an Open Future |
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| This Month in The Journal |
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| A Weighted False Discovery Rate Control Procedure Reveals Alleles at FOXA2 that Influence Fasting Glucose Levels |
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| No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation |
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| Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy |
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| Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly |
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| Allelic Skewing of DNA Methylation Is Widespread across the Genome |
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| Response to Payne |
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| This Month in Genetics |
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| Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation |
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Ashkenazi Jews |
| Announcement |
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| Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa |
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| Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy |
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| Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene |
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| Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS |
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| Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment |
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| A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans |
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| Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene |
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| Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse |
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| ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure |
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| Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets |
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| Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1 |
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| Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome |
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| Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome |
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| Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia |
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| The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans |
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| Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies |
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| Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies |
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| Identification of KCNJ15 as a Susceptibility Gene in Asian Patients with Type 2 Diabetes Mellitus |
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| Announcements |
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| Highly Punctuated Patterns of Population Structure on the X Chromosome and Implications for African Evolutionary History |
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| A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome |
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| This Month in The Journal |
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| Leveraging Genetic Variability across Populations for the Identification of Causal Variants |
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| Prioritizing GWAS Results: A Review of Statistical Methods and Recommendations for Their Application |
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| Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene |
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| Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability |
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| This Month in Genetics |
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| Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p |
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| A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease |
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| Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation |
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✓ |
|
Ashkenazi Jews |
| Quantitative Trait Loci for CD4:CD8 Lymphocyte Ratio Are Associated with Risk of Type 1 Diabetes and HIV-1 Immune Control |
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| Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2 |
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| Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene |
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