| This Month in the Journal |
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| This Month in the Journal |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at lea |
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| Novel Association in Chromosome 4q27 Region with Rheumatoid Arthritis and Confirmation of Type 1 Diabetes Point to a General Risk Locus for Autoimmune Diseases |
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| A Genomewide Association Study of Skin Pigmentation in a South Asian Population |
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| Contribution of SHANK3 Mutations to Autism Spectrum Disorder |
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| Contents of Volume 81 |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at l |
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| This Month in the Journal |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at lea |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at l |
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| Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination |
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| High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language Disorders |
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| The Structure of Common Genetic Variation in United States Populations |
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| Multifactor Dimensionality Reduction–Phenomics: A Novel Method to Capture Genetic Heterogeneity with Use of Phenotypic Variables |
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| Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy |
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| Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA |
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| A Functional Polymorphism in COL11A1, Which Encodes the α1 Chain of Type XI Collagen, Is Associated with Susceptibility to Lumbar Disc Herniation |
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| Common Single-Nucleotide Polymorphisms Act in Concert to Affect Plasma Levels of High-Density Lipoprotein Cholesterol |
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| RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies |
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| Announcements11.Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at le |
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| This Month in the Journal |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at l |
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| Announcements11.Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at le |
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| Announcements |
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| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at lea |
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| This Month in the Journal |
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| This Month in the Journal |
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| So Many Correlated Tests, So Little Time! Rapid Adjustment of P Values for Multiple Correlated Tests |
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| Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 |
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| Identification of the Transcriptional Targets of FOXP2, a Gene Linked to Speech and Language, in Developing Human Brain |
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| Pathway-Based Approaches for Analysis of Genomewide Association Studies |
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| Editorial Reviewers for 2007 |
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| This Month in the Journal |
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| This Month in the Journal |
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| Announcements11.Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at le |
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| DNA Methylation Signatures within the Human Brain |
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| Haplotype-Based Association Analysis via Variance-Components Score Test |
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| Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV |
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| Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development |
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| Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at l |
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| A Randomization Test for Controlling Population Stratification in Whole-Genome Association Studies |
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| Estimating Prevalence, False-Positive Rate, and False-Negative Rate with Use of Repeated Testing When True Responses Are Unknown |
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| A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy |
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| The First Genomewide Interaction and Locus-Heterogeneity Linkage Scan in Bipolar Affective Disorder: Strong Evidence of Epistatic Effects between Loci on Chromosomes 2q and 6q |
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| Information-Theoretic Metrics for Visualizing Gene-Environment Interactions |
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| Fine Mapping versus Replication in Whole-Genome Association Studies |
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| Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy |
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| Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy |
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| Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering |
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| Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia |
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| Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy |
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| Erratum |
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| Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations |
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| This Month in the Journal |
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| Engaging the ASHG Membership |
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| A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes |
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| Family-Based Association Tests for Genomewide Association Scans |
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| Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases |
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| Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance |
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| Genome Partitioning of Genetic Variation for Height from 11,214 Sibling Pairs |
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| Simultaneously Correcting for Population Stratification and for Genotyping Error in Case-Control Association Studies |
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| TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression |
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| A Chromosome 11q Quantitative-Trait Locus Influences Change of Blood-Pressure Measurements over Time in Mexican Americans of the San Antonio Family Heart Study |
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| Geographically Separate Increases in the Frequency of the Derived ADH1B*47His Allele in Eastern and Western Asia |
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| Re: The Use of Inferred Haplotypes in Downstream Analysis |
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| A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2 |
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| Reply to Peter Kraft and Daniel O. Stram |
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| GeneTests: Integrating Genetic Services into Patient Care |
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| This Month in the Journal |
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| Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–Associated Microdele |
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| Introductory Speech for Dorothy Warburton* |
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| Introductory Speech for David L. Rimoin* |
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| Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance |
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| A Bayesian Approach to Copy-Number–Polymorphism Analysis in Nuclear Pedigrees |
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| 2006 Cotterman Award Winners |
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| Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma |
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| The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity |
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| Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia |
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| Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation |
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| A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation |
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| Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome |
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| Having It All* |
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| Introductory Speech for Roberta A. Pagon* |
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| Marfan Syndrome: From Molecules to Medicines* |
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| A Half Century of Medical Genetics—Where Do We Go from Here?* |
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| An LRP8 Variant Is Associated with Familial and Premature Coronary Artery Disease and Myocardial Infarction |
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| The World of AJHG |
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| Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia |
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| Simultaneous Discovery and Testing of Deletions for Disease Association in SNP Genotyping Studies |
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| Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia |
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| Our Society and the Scientist-Citizen* |
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| Introductory Speech for Hal Dietz* |
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| Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome |
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| Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation |
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| NOBOX Homeobox Mutation Causes Premature Ovarian Failure |
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| PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses |
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| Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy |
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| CHMP4B, a Novel Gene for Autosomal Dominant Cataracts Linked to Chromosome 20q |
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| Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes |
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| Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study |
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| Flexible Design for Following Up Positive Findings |
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| Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans |
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| Physical Exercise–Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1 in Pancreatic β Cells |
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| Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum |
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| Erratum |
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| Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy |
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| Genomewide Weighted Hypothesis Testing in Family-Based Association Studies, with an Application to a 100K Scan |
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| Identification of Genetic Variants Contributing to Cisplatin-Induced Cytotoxicity by Use of a Genomewide Approach |
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| Erratum |
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| Evidence of Still-Ongoing Convergence Evolution of the Lactase Persistence T-13910 Alleles in Humans |
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| Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 |
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| Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway |
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| The Genetics of Congenital Amusia (Tone Deafness): A Family-Aggregation Study |
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| This Month in the Journal |
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| ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States |
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| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to [email protected]. Submission must be received at l |
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| DLX5 and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency |
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| Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway |
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| Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance |
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| Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum |
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| Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects |
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| Combining Evidence of Natural Selection with Association Analysis Increases Power to Detect Malaria-Resistance Variants |
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| Reply to Dr. Robert A. Hegele |
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| Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy |
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| Reply to Lynch et al. |
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| The TAF1/DYT3 Multiple Transcript System in X-Linked Dystonia-Parkinsonism |
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| Enriching the Analysis of Genomewide Association Studies with Hierarchical Modeling |
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| New Perspectives for the Elucidation of Genetic Disorders |
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| This Month in the Journal |
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| Looking Back; Moving Forward |
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| A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) |
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| A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies |
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| Copy-Number Variations and Human Disease |
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| Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion |
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| Numbers of Copy-Number Variations and False-Negative Rates Will Be Underestimated If We Do Not Account for the Dependence between Repeated Experiments |
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| Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background |
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| Bayesian Mapping of Quantitative Trait Loci for Multiple Complex Traits with the Use of Variance Components |
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| Case-Control Association Testing with Related Individuals: A More Powerful Quasi-Likelihood Score Test |
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| Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy |
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| TAF1 as the Most Plausible Disease Gene for XDP/DYT3 |
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| Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1 |
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| A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN |
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| Sequence-Based Prioritization of Nonsynonymous Single-Nucleotide Polymorphisms for the Study of Disease Mutations |
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| Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTR1 3′ Untranslated Region: A Mechanism for Functional Single-Nucleotide Polymorphisms Related to Phen |
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| Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium |
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| Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly |
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| Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling |
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| The Nuclear Factor κB–Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset |
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| Erratum |
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| Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa |
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| Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H |
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| Conversion and Compensatory Evolution of the γ-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State |
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| A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population |
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✓ |
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Dutch population |
| Normal Levels of Wild-Type Mitochondrial DNA Maintain Cytochrome c Oxidase Activity for Two Pathogenic Mitochondrial DNA Mutations but Not for m.3243A→G |
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| RNA Interference–Mediated Suppression and Replacement of Human Rhodopsin In Vivo |
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| Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome |
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| The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter |
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| CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders |
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| A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency |
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| ASHG Continues Its Support of DNA Day |
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| Erratum |
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| Correlation of Intergenerational Family Sizes Suggests a Genetic Component of Reproductive Fitness |
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| Identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families |
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| Evidence of Amino Acid Diversity–Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ |
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| Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 |
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| Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor Specimens by Use of Affymetrix Single-Nucleotide–Polymorphism Genotyping Microarrays |
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| Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1 |
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| Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 |
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| A Genomewide Admixture Map for Latino Populations |
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European ancestry |
| A Common Haplotype in the G-Protein–Coupled Receptor Gene GPR74 Is Associated with Leanness and Increased Lipolysis |
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| Addendum |
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| ASHG Board Emphasizes Communication and Involvement |
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| A Genomewide Single-Nucleotide–Polymorphism Panel for Mexican American Admixture Mapping |
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| Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy |
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| Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a Risk Factor for and High Copy Number Is a Protectiv |
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✓ |
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European Americans |
| A Generalized Combinatorial Approach for Detecting Gene-by-Gene and Gene-by-Environment Interactions with Application to Nicotine Dependence |
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| Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4) |
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| Defining the Cause of Skewed X-Chromosome Inactivation in X-Linked Mental Retardation by Use of a Mouse Model |
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| Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia |
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| A Genomewide Admixture Mapping Panel for Hispanic/Latino Populations |
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| RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity |
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| Homozygosity Haplotype Allows a Genomewide Search for the Autosomal Segments Shared among Patients |
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| IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma |
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| A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss |
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| Arthur G. Steinberg, 1912–2006 |
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| Type 2 Diabetes TCF7L2 Risk Genotypes Alter Birth Weight: A Study of 24,053 Individuals |
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| Genetic Factors in Congenital Diaphragmatic Hernia |
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| Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes |
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| Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus |
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| The Himalayas as a Directional Barrier to Gene Flow |
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| Improving Power in Contrasting Linkage-Disequilibrium Patterns between Cases and Controls |
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| A Simple and Improved Correction for Population Stratification in Case-Control Studies |
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| Maimon M. Cohen: January 24, 1935, to January 25, 2007 |
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| The Federal Maze |
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| Erratum |
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| Measuring European Population Stratification with Microarray Genotype Data |
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| The Methylenetetrahydrofolate Reductase 677C→T Polymorphism as a Modulator of a B Vitamin Network with Major Effects on Homocysteine Metabolism |
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| Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities |
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| Genetic Linkage to Chromosome 22q12 for a Heavy-Smoking Quantitative Trait in Two Independent Samples |
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| Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction |
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| Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) |
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| Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A |
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| Gene-Gene and Gene-Environment Interactions Involving HLA-DRB1, PTPN22, and Smoking in Two Subsets of Rheumatoid Arthritis |
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| Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype |
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| CHD7 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Scoliosis |
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| Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1 |
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| Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway |
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| Peakwide Mapping on Chromosome 3q13 Identifies the Kalirin Gene as a Novel Candidate Gene for Coronary Artery Disease |
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| The Strength of Selection on Ultraconserved Elements in the Human Genome |
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| Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype |
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| Disruption of Diacylglycerol Kinase Delta (DGKD) Associated with Seizures in Humans and Mice |
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| Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis |
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| Robert J. Gorlin, 1923–2006: Evolution of His Phenotype |
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| Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux |
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| Overcoming the Winner’s Curse: Estimating Penetrance Parameters from Case-Control Data |
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| Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans |
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| Leveraging the HapMap Correlation Structure in Association Studies |
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| Association Mapping via Regularized Regression Analysis of Single-Nucleotide–Polymorphism Haplotypes in Variable-Sized Sliding Windows |
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| Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels |
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| Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Choles |
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| Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs |
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| Identification of a Novel Risk Locus for Progressive Supranuclear Palsy by a Pooled Genomewide Scan of 500,288 Single-Nucleotide Polymorphisms |
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| Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement |
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| Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome |
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| Medical Sequencing at the Extremes of Human Body Mass |
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| Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies |
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| A Genetic Association Study of Chromosome 11q22-24 in Two Different Samples Implicates the FXYD6 Gene, Encoding Phosphohippolin, in Susceptibility to Schizophrenia |
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| Congress 110 |
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| Erratum |
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| Mendelian Inheritance in Man and Its Online Version, OMIM |
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| Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome |
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| Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation |
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| Erratum |
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| Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enha |
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| Gene-Expression Variation Within and Among Human Populations |
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| A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy |
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| No Gene Is an Island: The Flip-Flop Phenomenon |
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| Localization of a Gene for Nonsyndromic Renal Hypodysplasia to Chromosome 1p32-33 |
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| First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure |
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| Mutation in CUL4B, Which Encodes a Member of Cullin-RING Ubiquitin Ligase Complex, Causes X-Linked Mental Retardation |
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| Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions |
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| Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike |
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| Polymorphic Variation in Human Meiotic Recombination |
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| The Evolution of Satellite III DNA Subfamilies among Primates |
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| Genomewide Association Studies Data Sharing: National Institutes of Health Policy Process |
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| The Use of Inferred Haplotypes in Downstream Analyses |
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| Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians |
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| Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation |
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| Evidence of Positive Selection on a Class I ADH Locus |
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| Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation |
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| Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism |
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| Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase |
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| Efficient Association Mapping of Quantitative Trait Loci with Selective Genotyping |
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| A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation |
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| A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes |
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| GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies |
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| Long-Term Rescue of a Lethal Inherited Disease by Adeno-Associated Virus–Mediated Gene Transfer in a Mouse Model of Molybdenum-Cofactor Deficiency |
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| Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata |
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| ALAD Porphyria Is a Conformational Disease |
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| Reply to Loughlin et al. |
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| CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1 |
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| Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome |
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| Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families |
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| Inheritance of Mitochondrial DNA Recombinants in Double-Heteroplasmic Families: Potential Implications for Phylogenetic Analysis |
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| Improved Power by Use of a Weighted Score Test for Linkage Disequilibrium Mapping |
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| The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior |
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| Erratum |
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| Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome |
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| Associating Mitochondrial DNA Variation with Complex Traits |
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| Reply to Elson et al. |
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| Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q |
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| Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia |
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| Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, H |
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| Conflict of Interest: The “Interest” of ASHG |
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| The Role of Neuronal Complexes in Human X-Linked Brain Diseases |
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| Genetic Association Analysis of RHOB and TXNDC3 in Osteoarthritis |
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| Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome |
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| Genome Scanning by Composite Likelihood |
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| Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2 |
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| A Mitochondrial Stratigraphy for Island Southeast Asia |
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| Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations |
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| An Evaluation of Power and Type I Error of Single-Nucleotide Polymorphism Transmission/Disequilibrium–Based Statistical Methods under Different Family Structures, Missing Parental Data, and Population |
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| The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome |
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| Orofacial Cleft Risk Is Increased with Maternal Smoking and Specific Detoxification-Gene Variants |
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| Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu |
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| A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome |
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| Identification of the Genetic Basis for Complex Disorders by Use of Pooling-Based Genomewide Single-Nucleotide–Polymorphism Association Studies |
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| Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1 |
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|
✓ |
|
Arab family |
| Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration |
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| ASHG Receives $1.1 Million NSF Grant |
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| An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation |
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| Functional Variants in the Promoter Region of Chitinase 3–Like 1 (CHI3L1) and Susceptibility to Schizophrenia |
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| Genotype × Adiposity Interaction Linkage Analyses Reveal a Locus on Chromosome 1 for Lipoprotein-Associated Phospholipase A2, a Marker of Inflammation and Oxidative Stress |
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| X-APL: An Improved Family-Based Test of Association in the Presence of Linkage for the X Chromosome |
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| Multipoint Linkage-Disequilibrium Mapping with Haplotype-Block Structure |
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| Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia |
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