| 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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| 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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| 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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| 2005 Cotterman Award Winners |
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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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| 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<i>Journal</i> |
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| Society News |
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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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| 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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| Employment Opportunities; Meetings; Conferences |
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| This Month in the<i>Journal</i> |
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| Editorial Reviewers for 2006 |
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| Contents of Volume 79 |
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| Employment Opportunities; Conferences; Patient Registry Forming |
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| This Month in the Journal |
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| Contents of Volume 78 |
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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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| This Month in the Journal |
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| This Month in the Journal |
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| Announcements 1 1Announcements 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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| Society News |
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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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| Employment Opportunities; Meetings; Conference; Colloquium |
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| Announcements |
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| Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III |
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| Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci |
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| A Common Haplotype of the Glucokinase Gene Alters Fasting Glucose and Birth Weight: Association in Six Studies and Population-Genetics Analyses |
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| Human Adaptive Evolution at Myostatin (GDF8), a Regulator of Muscle Growth |
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| Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia |
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| Tricellulin Is a Tight-Junction Protein Necessary for Hearing |
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| ASHG Code of Ethics |
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| Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy |
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| Powerful Multilocus Tests of Genetic Association in the Presence of Gene-Gene and Gene-Environment Interactions |
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| Biochemical and Genetic Analysis of ANK in Arthritis and Bone Disease |
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| Mutations of Presenilin Genes in Dilated Cardiomyopathy and Heart Failure |
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| Erratum |
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| Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration |
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| Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations |
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| Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation |
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| Exact Tests of Hardy-Weinberg Equilibrium and Homogeneity of Disequilibrium across Strata |
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| Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia |
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| HLA and Genomewide Allele Sharing in Dizygotic Twins |
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| Molecular Population Genetics of the Gene Encoding the Human Fertilization Protein Zonadhesin Reveals Rapid Adaptive Evolution |
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| Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome |
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| Mutation-Positive and Mutation-Negative Patients with Cowden and Bannayan-Riley-Ruvalcaba Syndromes Associated with Distinct 10q Haplotypes |
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| What is FASEB, Anyway? |
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| Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching |
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| Nucleotide-Resolution Mapping of Topoisomerase-Mediated and Apoptotic DNA Strand Scissions at or near an MLL Translocation Hotspot |
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| Multipoint Linkage Analysis with Many Multiallelic or Dense Diallelic Markers: Markov Chain–Monte Carlo Provides Practical Approaches for Genome Scans on General Pedigrees |
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| Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies |
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| Test for Interaction between Two Unlinked Loci |
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| A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination |
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| Mapping Trait Loci by Use of Inferred Ancestral Recombination Graphs |
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| Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) |
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| Generalized Genomic Distance–Based Regression Methodology for Multilocus Association Analysis |
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| A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome |
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| Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs |
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| Erratum |
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| PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy |
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| Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement |
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| Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia |
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| Analysis of High-Resolution HapMap of DTNBP1 (Dysbindin) Suggests No Consistency between Reported Common Variant Associations and Schizophrenia |
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| Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy |
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| Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2 |
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| Parent-of-Origin Effect and Risk for Attention-Deficit/Hyperactivity Disorder: Balancing the Evidence against Bias and Chance Findings |
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| Reply to Joober and Sengupta |
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| CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia |
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| Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p |
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| Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate |
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| A New Method for Detecting Human Recombination Hotspots and Its Applications to the HapMap ENCODE Data |
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| Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C) |
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| Genomewide Linkage Screen for Waldenström Macroglobulinemia Susceptibility Loci in High-Risk Families |
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| Reduction of Sample Heterogeneity through Use of Population Substructure: An Example from a Population of African American Families with Sarcoidosis |
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✓ |
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African American |
| Reply to Webb et al. |
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| A Flexible Bayesian Framework for Modeling Haplotype Association with Disease, Allowing for Dominance Effects of the Underlying Causative Variants |
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| HLA-B Maternal-Fetal Genotype Matching Increases Risk of Schizophrenia |
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| Satb2 Haploinsufficiency Phenocopies 2q32-q33 Deletions, whereas Loss Suggests a Fundamental Role in the Coordination of Jaw Development |
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| ASHG Takes Steps to Impact Undergraduate Genetics Education |
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| Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14 |
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| Colorectal Cancer Risk in Monoallelic Carriers of MYH Variants |
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| LRRK2 G2019S in Families with Parkinson Disease Who Originated from Europe and the Middle East: Evidence of Two Distinct Founding Events Beginning Two Millennia Ago |
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| Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness |
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| A Genomewide Search Finds Major Susceptibility Loci for Nicotine Dependence on Chromosome 10 in African Americans |
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✓ |
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African Americans |
| Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis |
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| Origins of the Human Genome Project: Why Sequence the Human Genome When 96% of It Is Junk? |
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| Genetic Mapping at 3-Kilobase Resolution Reveals Inositol 1,4,5-Triphosphate Receptor 3 as a Risk Factor for Type 1 Diabetes in Sweden |
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| A Genomewide Single-Nucleotide–Polymorphism Panel with High Ancestry Information for African American Admixture Mapping |
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| A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis |
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| Introductory Speech for Francis S. Collins** Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 28, 2005. |
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| A Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon |
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| A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene |
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| Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene |
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| Monte Carlo Pedigree Disequilibrium Test for Markers on the X Chromosome |
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| Reply to Salviati et al. |
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| Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation |
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| Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote |
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| Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase |
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| Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans |
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| No Longer Just Looking under the Lamppost**Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 28, 2005. |
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| Exploring along a Crooked Path** Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 29, 2005. |
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| Introductory Speech for Patrick O. Brown** Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 29, 2005. |
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| The Value of Molecular Haplotypes in a Family-Based Linkage Study |
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| An Expectation-Maximization Algorithm for the Analysis of Allelic Expression Imbalance |
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| UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome |
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| Mitochondrial DNA–Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers |
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| Deletion of PTEN and BMPR1A on Chromosome 10q23 Is Not Always Associated with Juvenile Polyposis of Infancy |
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| Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis |
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| X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females |
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| Schizophrenia and Oxidative Stress: Glutamate Cysteine Ligase Modifier as a Susceptibility Gene |
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| Medical Genetics in the Genomic Medicine of the 21st Century** This article is based on a talk given at the Symposium on the Future of Human and Medical Genetics, held in Seattle on May 19, 2004, in h |
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| Meiotic Recombination and Spatial Proximity in the Etiology of the Recurrent t(11;22) |
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| The Annual Meeting: From Conception to Birth |
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| A Fast Method for Computing High-Significance Disease Association in Large Population-Based Studies |
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| Genomewide Scan for Nonsyndromic Cleft Lip and Palate in Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q33.1-34 |
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| Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites |
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| Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome |
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| Introduction |
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| Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome |
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| Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear |
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| Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots |
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| ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated in Hereditary Spastic Paraplegia |
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| Epigenetic Regulation of Human γ-Glutamyl Hydrolase Activity in Acute Lymphoblastic Leukemia Cells |
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| Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31 |
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| To Reveal the Genomes |
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| Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes |
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| Reply to Benito-Sanz et al. |
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| ASHG Honors Its Own |
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| A Geographically Explicit Genetic Model of Worldwide Human-Settlement History |
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| Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome |
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| Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome |
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| Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans |
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| Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy |
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| Linkage of Monogenic Infantile Hypertrophic Pyloric Stenosis to Chromosome 16p12-p13 and Evidence for Genetic Heterogeneity |
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| A Coalescence-Guided Hierarchical Bayesian Method for Haplotype Inference |
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| Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations |
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| Accommodating Chromosome Inversions in Linkage Analysis |
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| The Affected-/Discordant-Sib-Pair Design Can Guarantee Validity of Multipoint Model-Free Linkage Analysis of Incomplete Pedigrees When There Is Marker-Marker Disequilibrium |
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| The Alexander Disease–Causing Glial Fibrillary Acidic Protein Mutant, R416W, Accumulates into Rosenthal Fibers by a Pathway That Involves Filament Aggregation and the Association of αB-Crystallin and |
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| Genomewide Association Analysis of Human Narcolepsy and a New Resistance Gene |
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| Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit |
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| Linkage Analysis Using Co-Phenotypes in the BRIGHT Study Reveals Novel Potential Susceptibility Loci for Hypertension |
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| Trait Components Provide Tools to Dissect the Genetic Susceptibility of Migraine |
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| The SERPINE2 Gene and Chronic Obstructive Pulmonary Disease |
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| Distinct Expression Profiles for PTEN Transcript and Its Splice Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome |
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| Reply to Chappell et al. |
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| NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway |
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| Single-Nucleotide Polymorphism rs498055 on Chromosome 10q24 Is Not Associated with Alzheimer Disease in Two Independent Family Samples |
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| Familial Osteoarthritis of the Hip Joint Associated with Acetabular Dysplasia Maps to Chromosome 13q |
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| Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele |
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| DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy |
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| Human Genomic Deletions Mediated by Recombination between Alu Elements |
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| Reply to Bertram et al. |
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| Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure |
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| Mapping Tumor-Suppressor Genes with Multipoint Statistics from Copy-Number–Variation Data |
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| High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening* |
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| Intra- and Interindividual Epigenetic Variation in Human Germ Cells |
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| Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype |
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| Double Inactivation of NF1 in Tibial Pseudarthrosis |
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| ELMOD2 Is a Candidate Gene for Familial Idiopathic Pulmonary Fibrosis |
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| Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease |
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| Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly |
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| Genetic Variation in the CCL18-CCL3-CCL4 Chemokine Gene Cluster Influences HIV Type 1 Transmission and AIDS Disease Progression |
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| Reconstructing Genetic Ancestry Blocks in Admixed Individuals |
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| Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome |
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| Bayesian Graphical Models for Genomewide Association Studies |
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| The Advocates Training Partnership Program |
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| Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease |
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| Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes |
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| No Evidence for Association with Parkinson Disease for 13 Single-Nucleotide Polymorphisms Identified by Whole-Genome Association Screening |
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| Considerations for Genomewide Association Studies in Parkinson Disease |
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| Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome |
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| Reply to Dudbridge |
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| Variance Calculations for Identity-by-Descent Estimation |
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| Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder |
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| A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia |
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| Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes |
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| The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males |
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| Total-Genome Analysis of BRCA1/2-Related Invasive Carcinomas of the Breast Identifies Tumor Stroma as Potential Landscaper for Neoplastic Initiation |
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| Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia |
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| Genomewide Association, Parkinson Disease, and PARK10 |
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| Response from Maraganore et al. |
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| Errata |
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| Multilocus Association Mapping Using Variable-Length Markov Chains |
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| Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy |
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| A Note on Permutation Tests in Multistage Association Scans |
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| Conflicting Results Regarding the Semaphorin Gene (SEMA5A) and the Risk for Parkinson Disease |
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| Errata |
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| Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene: Multiple Significant Associations with Alcohol Dependence |
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| Online System for Faster Multipoint Linkage Analysis via Parallel Execution on Thousands of Personal Computers |
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| Elevated Expression and Genetic Association Links the SOCS3 Gene to Atopic Dermatitis |
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| Ordered Genotypes: An Extended ITO Method and a General Formula for Genetic Covariance |
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| Haplotype Homozygosity and Derived Alleles in the Human Genome |
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| A Case-Control Association Study of the 12 Single-Nucleotide Polymorphisms Implicated in Parkinson Disease by a Recent Genome Scan |
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| Fine-Mapping Chromosome 20 in 230 Systemic Lupus Erythematosus Sib Pair and Multiplex Families: Evidence for Genetic Epistasis with Chromosome 16q12 |
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| Contrasting Linkage-Disequilibrium Patterns between Cases and Controls as a Novel Association-Mapping Method |
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| Efficient Study Designs for Test of Genetic Association Using Sibship Data and Unrelated Cases and Controls |
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| Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease |
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| Coverage and Power in Genomewide Association Studies |
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| Variation in the Gene Encoding the Serotonin 2A Receptor Is Associated with Outcome of Antidepressant Treatment |
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| Sequence and Haplotype Analysis Supports HLA-C as the Psoriasis Susceptibility 1 Gene |
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| Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration |
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| Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder |
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| Erratum |
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| Genomewide Linkage Scan for Opioid Dependence and Related Traits |
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| Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans |
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|
✓ |
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|
Northern Europeans |
| Association of Polymorphisms in the Angiotensin-Converting Enzyme Gene with Alzheimer Disease in an Israeli Arab Community |
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| Polymorphism in Maternal LRP8 Gene Is Associated with Fetal Growth |
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| Erratum |
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| Cis - and Trans -Acting Gene Regulation Is Associated with Osteoarthritis |
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| Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease |
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| Genome Scan for Loci Predisposing to Anxiety Disorders Using a Novel Multivariate Approach: Strong Evidence for a Chromosome 4 Risk Locus |
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| Impact of Haplotype-Frequency Estimation Error on Test Statistics in Association Studies |
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| New Complexities in the Genetics of Stuttering: Significant Sex-Specific Linkage Signals |
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| A Murine Model for Human Sepiapterin-Reductase Deficiency |
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| Erratum |
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| Proportioning Whole-Genome Single-Nucleotide–Polymorphism Diversity for the Identification of Geographic Population Structure and Genetic Ancestry |
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| The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation |
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| Erratum |
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| Estimated Haplotype Counts from Case-Control Samples Cannot Be Treated as Observed Counts |
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| Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions |
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| Reply to Wirtenberger et al. |
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| A Fast and Flexible Statistical Model for Large-Scale Population Genotype Data: Applications to Inferring Missing Genotypes and Haplotypic Phase |
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| Biases and Reconciliation in Estimates of Linkage Disequilibrium in the Human Genome |
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| Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype |
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| Spread of an Inactive Form of Caspase-12 in Humans Is Due to Recent Positive Selection |
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| GDF5 Is a Second Locus for Multiple-Synostosis Syndrome |
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| A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8 |
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| Recently Mobilized Transposons in the Human and Chimpanzee Genomes |
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| Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension |
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| Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees |
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| A Fine-Scale Linkage-Disequilibrium Measure Based on Length of Haplotype Sharing |
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| Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome |
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| The Power to Detect Disease Associations with Mitochondrial DNA Haplogroups |
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| Society News |
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| Mapping Genetic Loci That Determine Leukocyte Telomere Length in a Large Sample of Unselected Female Sibling Pairs |
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| If Only We Spoke the Same Language—We Would Have So Much to Discuss* |
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| Education for Health Professionals and the Public* |
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| The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event |
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| Introductory Speech for Joseph D. McInerney* |
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| An Ancient Balanced Polymorphism in a Regulatory Region of Human Major Histocompatibility Complex Is Retained in Chinese Minorities but Lost Worldwide |
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| Identification of Frequent Chromosome Copy-Number Polymorphisms by Use of High-Resolution Single-Nucleotide–Polymorphism Arrays |
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| A Comparison of Phasing Algorithms for Trios and Unrelated Individuals |
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| Evaluating Statistical Significance in Two-Stage Genomewide Association Studies |
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| Bladder Cancer Predisposition: A Multigenic Approach to DNA-Repair and Cell-Cycle–Control Genes |
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| Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase α/β–Subunits Precursor Gene |
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| A Second Recombination Hotspot Associated with SHOX Deletions |
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| Erratum |
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| Theodore T. Puck (September 24, 1916–November 6, 2005) |
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| A Genomewide Search Finds Major Susceptibility Loci for Gallbladder Disease on Chromosome 1 in Mexican Americans |
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| Improved Power Offered by a Score Test for Linkage Disequilibrium Mapping of Quantitative-Trait Loci by Selective Genotyping |
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| Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism |
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| Deciphering the Ancient and Complex Evolutionary History of Human Arylamine N-Acetyltransferase Genes |
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| A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol |
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| Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease |
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| SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis |
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| Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 |
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| Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists |
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✓ |
|
Central Asian Pastoralists |
| Erratum |
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| Erratum |
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| A Novel Framework for Sib Pair Linkage Analysis |
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| Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease |
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| Regression-Based Association Analysis with Clustered Haplotypes through Use of Genotypes |
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| Using Linkage Genome Scans to Improve Power of Association in Genome Scans |
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| Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency |
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| Robust Genomic Control for Association Studies |
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| A Y-Chromosome Signature of Hegemony in Gaelic Ireland |
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| A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency |
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| Single-Nucleotide Polymorphisms in NAGNAG Acceptors Are Highly Predictive for Variations of Alternative Splicing |
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| Genomewide Linkage Scan of 409 European-Ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample |
|
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|
✓ |
|
✓ |
|
European-Ancestry; African American |
| Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation |
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| USH1A: Chronicle of a Slow Death |
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| ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation |
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| Society News |
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| The SERPINE2 Gene Is Associated with Chronic Obstructive Pulmonary Disease |
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| Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier? |
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| Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome |
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| Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2 |
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| Epimerase-Deficiency Galactosemia Is Not a Binary Condition |
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| Screening for Recently Selected Alleles by Analysis of Human Haplotype Similarity |
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| Society News |
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| You Say Goodbye and I Say Hello…* |
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| Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria |
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| A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis |
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| Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype |
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| Erratum |
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| Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia |
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| Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness |
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| Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer |
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| Variants Associated with Common Disease Are Not Unusually Differentiated in Frequency across Populations |
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| A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8) |
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| Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss |
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| A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease |
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| Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis |
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| Functional Variant in a Bitter-Taste Receptor (hTAS2R16) Influences Risk of Alcohol Dependence |
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| A Genetic and Cultural Odyssey: The Life and Work of L. Luca Cavalli-Sforza |
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