| mtDNA Data Mining in GenBank Needs Surveying |
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| Response to Li et al. |
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| The Biological Coherence of Human Phenome Databases |
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| A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly |
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| Meta-Analysis of Genome-wide Association Studies with Overlapping Subjects |
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| Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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| Response to Falush: A Role for cis-Element Polymorphisms in HD |
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| Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation |
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| Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination |
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| Genetic Landscape of Eurasia and “Admixture” in Uyghurs |
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| Haplotype Background, Repeat Length Evolution, and Huntington's Disease |
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| Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation |
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| Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome |
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| Remarkably Little Variation in Proteins Encoded by the Y Chromosome's Single-Copy Genes, Implying Effective Purifying Selection |
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| This Month in Genetics |
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| This Month in The Journal |
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| Response to Yao et al. |
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| A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression |
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| Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies |
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| Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects |
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| Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation |
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| Short Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging |
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| Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia |
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| Using Lifetime Risk Estimates in Personal Genomic Profiles: Estimation of Uncertainty |
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| Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies |
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| ATRIUM: Testing Untyped SNPs in Case-Control Association Studies with Related Individuals |
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| FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome |
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| Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip |
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| This Month in The Journal |
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| This Month in Genetics |
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| Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans |
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✓ |
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Europeans |
| CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila |
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| Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia |
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| Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness |
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| TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness |
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| Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs |
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| Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans |
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| Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n |
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| Public Opinion about the Importance of Privacy in Biobank Research |
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| The Relationship between Imputation Error and Statistical Power in Genetic Association Studies in Diverse Populations |
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| Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume |
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| Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta |
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| Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease |
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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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| Identification of CANT1 Mutations in Desbuquois Dysplasia |
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| Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa |
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| Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature |
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| A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma |
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| Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development |
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| Ethics and Newborn Genetic Screening: New Technologies, New Challenges |
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| A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors |
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| Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11 |
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| Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA |
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| This Month in Genetics |
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| This Month in The Journal |
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| Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function |
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| Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations |
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| OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin |
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| Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies |
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| Integration of Genomic and Genetic Approaches Implicates IREB2 as a COPD Susceptibility Gene |
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| Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer |
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| PPIB Mutations Cause Severe Osteogenesis Imperfecta |
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| A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles |
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| Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma |
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| Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females |
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| Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine |
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| Epistasis and Its Implications for Personal Genetics |
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| This Month in Genetics |
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| Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia |
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| This Month in The Journal |
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| The Editors' Recollections on the Occasion of the 60th Anniversary of The American Journal of Human Genetics |
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| A Generalized Family-Based Association Test for Dichotomous Traits |
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| Acute Infantile Liver Failure Due to Mutations in the TRMU Gene |
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| Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease |
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| Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans |
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| FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome |
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| Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism |
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| A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene |
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| Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy |
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| Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females |
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| The Ethics of Protocells—Moral and Social Implications of Creating Life in the Laboratory |
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| Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine |
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| PRKCA: A Positional Candidate Gene for Body Mass Index and Asthma |
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| X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women |
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| This Month in The Journal |
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| This Month in Genetics |
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| IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice |
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| A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions |
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| Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma-Associated Loci within the HLA Region at Chromosome 6p21.3 |
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| Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure |
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| A Genome-wide In Vitro Bacterial-Infection Screen Reveals Human Variation in the Host Response Associated with Inflammatory Disease |
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| CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment |
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| Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome |
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| Skewed X Chromosome Inactivation and Trisomic Spontaneous Abortion: No Association |
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| Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene |
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| Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome |
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| Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function |
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| RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome |
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| Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia |
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| Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders |
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| Multiple Synostoses Syndrome Is Due to a Missense Mutation in Exon 2 of FGF9 Gene |
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| This Month in Genetics |
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| This Month in The Journal |
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| Diverse Evolutionary Histories for β-adrenoreceptor Genes in Humans |
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| Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot |
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| Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39 |
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| Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies |
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| Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2 |
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| Genome-wide Study of Families with Absolute Pitch Reveals Linkage to 8q24.21 and Locus Heterogeneity |
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| PRKCA: A Positional Candidate Gene for Body Mass Index and Asthma |
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| Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations |
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| Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy |
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| Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public |
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| WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes |
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| Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder |
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| Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa |
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| This Month in Genetics |
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| This Month in The Journal |
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| Fixing Sex: Intersex, Medical Authority, and Lived Experience |
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| A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems |
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| The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 |
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| X Chromosome Inactivation Is Initiated in Human Preimplantation Embryos |
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| Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia |
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| Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy of the Early Sardinians |
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| Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations |
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| Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock |
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| Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia |
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| Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome |
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| Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease |
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| Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene |
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| Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome |
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| The Diversity Present in 5140 Human Mitochondrial Genomes |
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| This Month in The Journal |
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| This Month in Genetics |
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| Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations |
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| Genetic Effects on Environmental Vulnerability to Disease |
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| Genome-wide Insights into the Patterns and Determinants of Fine-Scale Population Structure in Humans |
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| DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III |
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| Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder |
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| Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease |
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| The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency |
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| IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23 |
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| Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene |
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| Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice |
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| Multilocus Bayesian Meta-Analysis of Gene-Disease Associations |
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| Significant Linkage Evidence for a Predisposition Gene for Pelvic Floor Disorders on Chromosome 9q21 |
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| Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation |
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| A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease |
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| Revisiting Race in a Genomic Age |
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| Genetic Control of Human Brain Transcript Expression in Alzheimer Disease |
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| This Month in Genetics |
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| This Month in The Journal |
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| IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response |
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| Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome |
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| Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene |
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| Null Mutations in LTBP2 Cause Primary Congenital Glaucoma |
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| Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease |
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| Winter Temperature and UV Are Tightly Linked to Genetic Changes in the p53 Tumor Suppressor Pathway in Eastern Asia |
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| Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein |
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| Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 |
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| DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources |
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| Association Test for X-Linked QTL in Family-Based Designs |
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| Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3 |
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| Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2 |
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| TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy |
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| Genome-wide Linkage Screen in Familial Parkinson Disease Identifies Loci on Chromosomes 3 and 18 |
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| Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations |
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| This Month in The Journal |
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| This Month in Genetics |
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| Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation |
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| Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene |
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| Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa |
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| Genome-wide Association Study of Smoking Initiation and Current Smoking |
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| Genome-wide Association and Replication Studies Identified TRHR as an Important Gene for Lean Body Mass |
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| Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups |
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| Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip |
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| Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease |
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| CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup |
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| Signatures of Purifying and Local Positive Selection in Human miRNAs |
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| A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis |
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| Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia |
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| Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants |
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| Genotype-Imputation Accuracy across Worldwide Human Populations |
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| Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly |
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| Awards and Addresses Summary |
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| A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals |
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| A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis |
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| Response to Zang et al. and Han et al. |
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| This Month in The Journal |
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| TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome |
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| William Allan Award Introduction: Haig H. Kazazian, Jr. |
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| A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis |
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| A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12 |
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| Is the Tail-Strength Measure More Powerful in Tests of Genetic Association? |
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| A Missense Mutation in CASK Causes FG Syndrome in an Italian Family |
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✓ |
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Italian (family) |
| Allan Award Lecture: On Jumping Fields and “Jumping Genes” |
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| Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta |
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| A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs |
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| Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta |
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| Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities |
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| Tail Strength to Combine Two p Values: Their Correlation Cannot Be Ignored |
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| Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders and Comparison to Utah Samples in the HapMap Project |
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| This Month in Genetics |
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| Searching for Genotype-Phenotype Structure: Using Hierarchical Log-Linear Models in Crohn Disease |
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| Common Variation in the β-Carotene 15,15′-Monooxygenase 1 Gene Affects Circulating Levels of Carotenoids: A Genome-wide Association Study |
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| Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea |
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| A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems |
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| Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease |
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| Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci |
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| Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood |
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| Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia |
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| Low Allele Frequency of ADH1B∗47His in West China and Different ADH1B Haplotypes in Western and Eastern Asia |
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| Distribution of the Alcohol Dehydrogenase ADH1B∗47His Allele in Eurasia |
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| Genome-wide Association Study Implicates a Chromosome 12 Risk Locus for Late-Onset Alzheimer Disease |
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| Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 |
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| Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS |
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| This Month in Genetics |
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| This Month in The Journal |
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| A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume |
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| A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan |
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| Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss |
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| Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications |
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| Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer |
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| Variants in TF and HFE Explain ∼40% of Genetic Variation in Serum-Transferrin Levels |
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| Association of Genetic Variants at 3q22 with Nephropathy in Patients with Type 1 Diabetes Mellitus |
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