| This Month in Genetics |
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| Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia |
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| This Month in The Journal |
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| The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population |
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| A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42) |
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| The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula |
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| PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption |
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| Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients |
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| Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy |
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| Association Mapping and Significance Estimation via the Coalescent |
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| Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia |
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| Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome |
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| No Evidence for a Difference in Neuropsychological Profile among Carriers and Noncarriers of the FMR1 Premutation in Adults under the Age of 50 |
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| Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation |
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| Divergence between Human Populations Estimated from Linkage Disequilibrium |
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| Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability |
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| Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia |
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| ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs |
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| This Month in The Journal |
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| Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10 |
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| CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa |
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| Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis |
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| Runs of Homozygosity in European Populations |
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✓ |
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European populations |
| TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome |
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| This Month in Genetics |
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| The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift |
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| A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome |
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| Genome-wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE |
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| Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean |
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| Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa |
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| The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease |
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| CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290 |
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| DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm |
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| Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation |
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| Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes |
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| The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 |
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| Announcements |
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| Civilian and Military Genetics: Nondiscrimination Policy in a Post-GINA World |
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| This Month in Genetics |
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| Comparing Algorithms for Genotype Imputation |
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| Reply to Marchini and Howie |
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| Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease |
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| Targeting Dyrk1A with AAVshRNA Attenuates Motor Alterations in TgDyrk1A, a Mouse Model of Down Syndrome |
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| Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients |
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| This Month in The Journal |
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| HLA-DRB10401 and HLA-DRB10408 Are Strongly Associated with the Development of Antibodies against Interferon-β Therapy in Multiple Sclerosis |
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| A Combinatorial Approach to Detecting Gene-Gene and Gene-Environment Interactions in Family Studies |
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| Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome |
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| A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene |
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| Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood |
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| Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association Studies |
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| A Short History of the American Society of Human Genetics |
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| A Bayesian Measure of the Probability of False Discovery in Molecular Genetic Epidemiology Studies |
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| This Month in The Journal |
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| This Month in Genetics |
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| Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project |
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| A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family |
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| The DNA Wars: Part I |
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| Victor Almon McKusick, MD, 1921–2008, In Memoriam |
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| Announcements |
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| A Genome-wide Analysis of Admixture in Uyghurs and a High-Density Admixture Map for Disease-Gene Discovery |
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| Genome-wide SNP-Based Linkage Scan Identifies a Locus on 8q24 for an Age-Related Hearing Impairment Trait |
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| The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics Research |
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| DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome |
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| Optimized Allotopic Expression of the Human Mitochondrial ND4 Prevents Blindness in a Rat Model of Mitochondrial Dysfunction |
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| C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload |
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| Adaptive Evolution of UGT2B17 Copy-Number Variation |
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| Runs of Homozygosity in European Populations |
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✓ |
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European populations |
| FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency |
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| Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis |
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| Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data |
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| Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes |
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| This Month in Genetics |
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| This Month in The Journal |
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| Neuropsychological Endophenotype Approach to Genome-wide Linkage Analysis Identifies Susceptibility Loci for ADHD on 2q21.1 and 13q12.11 |
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| Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9 |
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| Announcements |
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| Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome |
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| ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs |
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| Extensive Copy-Number Variation of the Human Olfactory Receptor Gene Family |
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| Class-Specific Correlations of Gene Expressions: Identification and Their Effects on Clustering Analyses |
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| WW-Domain-Containing Oxidoreductase Is Associated with Low Plasma HDL-C Levels |
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| Pathogenic Mitochondrial DNA Mutations Are Common in the General Population |
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| Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice |
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| A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart |
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| HLA-DRB1∗0401 and HLA-DRB1∗0408 Are Strongly Associated with the Development of Antibodies against Interferon-β Therapy in Multiple Sclerosis |
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| Evolutionary Forces Shape the Human RFPL1,2,3 Genes toward a Role in Neocortex Development |
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| Response to Martignoni et al. |
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| East Asian and Melanesian Ancestry in Polynesians |
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✓ |
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East Asian; Melanesian; Ancestry |
| Reply to Ho and Endicott |
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| This Month in The Journal |
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| The Role of ZFYVE27/Protrudin in Hereditary Spastic Paraplegia |
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| Personalized Genetics: A Responsible Approach |
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| Long-Range LD Can Confound Genome Scans in Admixed Populations |
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| Reply to Hedrick |
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| Response to Price et al. |
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| Reply to Stephan et al. |
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| Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy |
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| Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations |
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| This Month in Genetics |
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| Employment Opportunities |
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| The Crucial Role of Calibration in Molecular Date Estimates for the Peopling of the Americas |
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| An Algorithm for Inferring Complex Haplotypes in a Region of Copy-Number Variation |
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| Genotype-Specific Recurrence Risks as Indicators of the Genetic Architecture of Complex Diseases |
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| Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing |
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| Neuropsychological Endophenotype Approach to Genome-wide Linkage Analysis Identifies Susceptibility Loci for ADHD on 2q21.1 and 13q12.11 |
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| Fragile X-Related Proteins Regulate Mammalian Circadian Behavioral Rhythms |
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| Evaluating the Effects of Imputation on the Power, Coverage, and Cost Efficiency of Genome-wide SNP Platforms |
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| A Test for Genetic Association that Incorporates Information about Deviation from Hardy-Weinberg Proportions in Cases |
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| Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy |
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| Positive Selection in Alternatively Spliced Exons of Human Genes |
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| Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 |
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| FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome |
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| Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly |
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| This Month in Genetics |
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| Employment Opportunities |
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| Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability |
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| Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function |
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| Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy |
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| This Month in the Journal |
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| Detection, Imputation, and Association Analysis of Small Deletions and Null Alleles on Oligonucleotide Arrays |
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| Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome |
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| Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays |
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| Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 |
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| Monozygotic Twins Reveal Germline Contribution to Allelic Expression Differences |
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| Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis |
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| NDUFA2 Complex I Mutation Leads to Leigh Disease |
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| Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle |
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| Identification of a Role for the ARHGEF3 Gene in Postmenopausal Osteoporosis |
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| Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure |
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| Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase |
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| Two CES1 Gene Mutations Lead to Dysfunctional Carboxylesterase 1 Activity in Man: Clinical Significance and Molecular Basis |
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| Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome |
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| A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications |
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| Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations |
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| Employment Opportunities and Fellowship |
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| Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach |
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| Differential Expression of PTEN-Targeting MicroRNAs miR-19a and miR-21 in Cowden Syndrome |
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| This Month in the Journal |
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| This Month in Genetics |
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| Allan Award Lecture: Rare Patients Leading to Epigenetics and Back to Genetics |
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| Allan Award Introduction: Arthur L. Beaudet |
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| Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis |
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| ASHG Presidential Address: Who Is under the Umbrella—and Why Are We Here? |
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| Awards and Addresses Summary |
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| A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation |
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| Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome |
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| Mitochondrial Genome Diversity in Arctic Siberians, with Particular Reference to the Evolutionary History of Beringia and Pleistocenic Peopling of the Americas |
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| Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation |
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| A Functional Polymorphism in THBS2 that Affects Alternative Splicing and MMP Binding Is Associated with Lumbar-Disc Herniation |
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| Genetic Architecture of Transcript-Level Variation in Humans |
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| Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP |
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| The Dawn of Human Matrilineal Diversity |
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| Evidence for Natural Selection on Leukocyte Immunoglobulin-like Receptors for HLA Class I in Northeast Asians |
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| Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis |
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| Polymorphisms of the HNF1A Gene Encoding Hepatocyte Nuclear Factor-1α are Associated with C-Reactive Protein |
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| Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ |
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| Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study |
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| TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome |
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| Linkage Disequilibrium between STRPs and SNPs across the Human Genome |
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| Consistently Replicating Locus Linked to Migraine on 10q22-q23 |
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| Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach |
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| Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome |
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| FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality |
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| This Month in Genetics |
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| Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly |
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| This Month in the Journal |
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| Employment Opportunities |
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| On the Replication of Genetic Associations: Timing Can Be Everything! |
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| A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family |
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| Mapping of Small RNAs in the Human ENCODE Regions |
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| Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome |
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| Bayesian Meta-Analysis of Genetic Association Studies with Different Sets of Markers |
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| CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa |
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| Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice |
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| A Bayesian Evaluation of Human Mitochondrial Substitution Rates |
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| Walking the Interactome for Prioritization of Candidate Disease Genes |
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| Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia |
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| FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality |
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| Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort |
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| Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events |
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| Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease |
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| SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome |
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| SNP Arrays in Heterogeneous Tissue: Highly Accurate Collection of Both Germline and Somatic Genetic Information from Unpaired Single Tumor Samples |
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| Analysis of Genomic Admixture in Uyghur and Its Implication in Mapping Strategy |
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| Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers |
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| Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia |
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| The Involvement of DNA-Damage and -Repair Defects in Neurological Dysfunction |
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| Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene |
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| Robust Score Statistics for QTL Linkage Analysis |
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| A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions |
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| Using the Optimal Receiver Operating Characteristic Curve to Design a Predictive Genetic Test, Exemplified with Type 2 Diabetes |
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| Optimal Two-Stage Testing for Family-Based Genome-wide Association Studies |
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| Response to Zaykin and Shibata |
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| Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26 |
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| Multipoint Approximations of Identity-by-Descent Probabilities for Accurate Linkage Analysis of Distantly Related Individuals |
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| CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures |
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| ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency |
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| Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project |
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| Genetic Flip-Flop without an Accompanying Change in Linkage Disequilibrium |
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| Estimating Ethnic Admixture from Pedigree Data |
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| Epigenomic Profiling Reveals DNA-Methylation Changes Associated with Major Psychosis |
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| This Month in Genetics |
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| This Month in the Journal |
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| Call for Patients, Calls for Research Proposals, and Employment Opportunities |
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| Mitochondrial Population Genomics Supports a Single Pre-Clovis Origin with a Coastal Route for the Peopling of the Americas |
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| Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations |
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| Association of the Asporin D14 Allele with Lumbar-Disc Degeneration in Asians |
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✓ |
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Asians |
| Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease |
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| Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis |
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| Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation |
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| Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23 |
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| Identification of Susceptibility Genes for Cancer in a Genome-wide Scan: Results from the Colon Neoplasia Sibling Study |
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| Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene |
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| Response to Macgregor |
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| Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles |
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| Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance |
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| Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria |
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| Response to Ding and Lin |
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| This Month in Genetics |
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| FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta |
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| Estimating Local Ancestry in Admixed Populations |
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| Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood |
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| A Powerful and Flexible Multilocus Association Test for Quantitative Traits |
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| Gross Deletions Involving IGHM, BTK, or Artemis: A Model for Genomic Lesions Mediated by Transposable Elements |
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| Accommodating Linkage Disequilibrium in Genetic-Association Analyses via Ridge Regression |
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| Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues |
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| Simple and Efficient Analysis of Disease Association with Missing Genotype Data |
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| Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders |
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| Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene |
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| Neocentromeres: New Insights into Centromere Structure, Disease Development, and Karyotype Evolution |
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| XMCPDT Does Have Correct Type I Error Rates |
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| Admixture Mapping of White Cell Count: Genetic Locus Responsible for Lower White Blood Cell Count in the Health ABC and Jackson Heart Studies |
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| This Month in the Journal |
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| A Unified Association Analysis Approach for Family and Unrelated Samples Correcting for Stratification |
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| Comment on a Simple and Improved Correction for Population Stratification |
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| Response to Lee et al. |
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| Course and Employment Opportunities |
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| TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita |
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| Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein |
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| Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways |
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| Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus |
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| Renal Aplasia in Humans Is Associated with RET Mutations |
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| Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans |
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| Oncostatin M Receptor-β Mutations Underlie Familial Primary Localized Cutaneous Amyloidosis |
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| Admixture Mapping of White Cell Count: Genetic Locus Responsible for Lower White Blood Cell Count in the Health ABC and Jackson Heart Studies |
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| 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome |
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| Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders |
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| Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons |
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| Resuscitation and Evolution of a Classic |
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| Announcements |
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| Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels |
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| Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16 |
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| Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration |
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| An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1 |
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| Effective Gene Therapy of Mice with Congenital Erythropoietic Porphyria Is Facilitated by a Survival Advantage of Corrected Erythroid Cells |
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| Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35 |
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| Genome-wide Analysis Indicates More Asian than Melanesian Ancestry of Polynesians |
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| Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients |
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| Two Sources of the Russian Patrilineal Heritage in Their Eurasian Context |
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| Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene |
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| Genome-wide Association Study Identifies Genes for Biomarkers of Cardiovascular Disease: Serum Urate and Dyslipidemia |
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| Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation |
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| Canine Behavioral Genetics: Pointing Out the Phenotypes and Herding up the Genes |
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| Unraveling Autism |
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| The Fine-Scale and Complex Architecture of Human Copy-Number Variation |
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| C6ORF66 Is an Assembly Factor of Mitochondrial Complex I |
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| SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4 |
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| A Statistical Method for Predicting Classical HLA Alleles from SNP Data |
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| Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene |
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| Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms |
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| Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy |
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| Disruption of Neurexin 1 Associated with Autism Spectrum Disorder |
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| Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture |
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| X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 |
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| A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism |
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| On the Use of General Control Samples for Genome-wide Association Studies: Genetic Matching Highlights Causal Variants |
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| A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color |
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| This Month in Genetics |
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| This Month in the Journal |
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| Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma |
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| Structural Variation of Chromosomes in Autism Spectrum Disorder |
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| Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration |
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| Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations |
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