| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the<i>Journal</i> |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| Employment Opportunities; Conference |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the<i>Journal</i> |
|
|
|
|
|
|
|
|
|
| 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 |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Contents of Volume 74 |
|
|
|
|
|
|
|
|
|
| Employment Opportunities; Conference; Call for Patients |
|
|
|
|
|
|
|
|
|
| Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department |
|
|
|
|
|
|
|
|
|
| Contents of Volume 75 |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| This Month in the<i>Journal</i> |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| This Month in the<i>Journal</i> |
|
|
|
|
|
|
|
|
|
| Editorial Reviewers for 2004 |
|
|
|
|
|
|
|
|
|
| This Month in the Journal |
|
|
|
|
|
|
|
|
|
| Announcements11. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Departmen |
|
|
|
|
|
|
|
|
|
| Chronic and Recurrent Otitis Media: A Genome Scan for Susceptibility Loci |
|
|
|
|
|
|
|
|
|
| Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria |
|
|
|
|
|
|
|
|
|
| Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11 |
|
|
|
|
|
|
|
|
|
| Comparison of Microsatellites Versus Single-Nucleotide Polymorphisms in a Genome Linkage Screen for Prostate Cancer–Susceptibility Loci |
|
|
|
|
|
|
|
|
|
| The Genetic or Mythical Ancestry of Descent Groups: Lessons from the Y Chromosome |
|
|
|
|
|
|
|
|
|
| Ignoring Linkage Disequilibrium among Tightly Linked Markers Induces False-Positive Evidence of Linkage for Affected Sib Pair Analysis |
|
|
|
|
|
|
|
|
|
| Complex Genetics of Amyotrophic Lateral Sclerosis |
|
|
|
|
|
|
|
|
|
| Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening |
|
|
|
|
|
|
|
|
|
| CYP3A Variation and the Evolution of Salt-Sensitivity Variants |
|
|
|
|
|
|
|
|
|
| A Second-Generation Genomic Screen for Multiple Sclerosis |
|
|
|
|
|
|
|
|
|
| Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation |
|
|
|
|
|
|
|
|
|
| Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| CHEK2 Is a Multiorgan Cancer Susceptibility Gene |
|
|
|
|
|
|
|
|
|
| A 77-Kilobase Region of Chromosome 6p22.2 Is Associated with Dyslexia in Families From the United Kingdom and From the United States |
|
|
|
|
|
|
|
|
|
| A Combined Linkage-Physical Map of the Human Genome |
|
|
|
|
|
|
|
|
|
| Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites |
|
|
|
|
|
|
|
|
|
| Genetic Inheritance of Gene Expression in Human Cell Lines |
|
|
|
|
|
|
|
|
|
| Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder |
|
|
|
|
|
|
|
|
|
| A Genomewide Search Using an Original Pairwise Sampling Approach for Large Genealogies Identifies a New Locus for Total and Low-Density Lipoprotein Cholesterol in Two Genetically Differentiated Isolat |
|
|
|
|
|
|
|
|
|
| Etruscan Artifacts: Much Ado about Nothing |
|
|
|
|
|
|
|
|
|
| Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy |
|
|
|
|
|
|
|
|
|
| Genetic Variation in Radiation-Induced Expression Phenotypes |
|
|
|
|
|
|
|
|
|
| ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome |
|
|
|
|
|
|
|
|
|
| Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation |
|
|
|
|
|
|
|
|
|
| A Powerful and Robust New Linkage Statistic for Discordant Sibling Pairs |
|
|
|
|
|
|
|
|
|
| Disrupted in Schizophrenia 1 (DISC1): Association with Schizophrenia, Schizoaffective Disorder, and Bipolar Disorder |
|
|
|
|
|
|
|
|
|
| Finding Haplotype Tagging SNPs by Use of Principal Components Analysis |
|
|
|
|
|
|
|
|
|
| The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool |
|
|
|
|
✓ |
|
|
|
European gene pool |
| Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears |
|
|
|
|
|
|
|
|
|
| Etruscan Artifacts |
|
|
|
|
|
|
|
|
|
| On the Etruscan Mitochondrial DNA Contribution to Modern Humans |
|
|
|
|
|
|
|
|
|
| Association of the DTNBP1 Locus with Schizophrenia in a U.S. Population |
|
|
|
|
|
|
|
|
|
| Statistical Tests for Admixture Mapping with Case-Control and Cases-Only Data |
|
|
|
|
|
|
|
|
|
| A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis |
|
|
|
|
|
|
|
|
|
| Association of the Gene Encoding Wingless-Type Mammary Tumor Virus Integration-Site Family Member 5B (WNT5B) with Type 2 Diabetes |
|
|
|
|
|
|
|
|
|
| GDD1 Is Identical to TMEM16E, a Member of the TMEM16 Family |
|
|
|
|
|
|
|
|
|
| Response to Katoh and Katoh |
|
|
|
|
|
|
|
|
|
| Family-Based Association Study of Synapsin II and Schizophrenia |
|
|
|
|
|
|
|
|
|
| Functional Analysis of Genetic Variation in Catechol-O-Methyltransferase (COMT): Effects on mRNA, Protein, and Enzyme Activity in Postmortem Human Brain |
|
|
|
|
|
|
|
|
|
| The Genetics of Sun Sensitivity in Humans |
|
|
|
|
|
|
|
|
|
| Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome |
|
|
|
|
|
|
|
|
|
| Chromosomal Instability at Common Fragile Sites in Seckel Syndrome |
|
|
|
|
|
|
|
|
|
| Attention Deficit Hyperactivity Disorder: Fine Mapping Supports Linkage to 5p13, 6q12, 16p13, and 17p11 |
|
|
|
|
|
|
|
|
|
| Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2 |
|
|
|
|
|
|
|
|
|
| Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region |
|
|
|
|
|
|
|
|
|
| A Powerful Strategy to Account for Multiple Testing in the Context of Haplotype Analysis |
|
|
|
|
|
|
|
|
|
| Genetics of Mitochondrial Diseases |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium and Association of MAPT H1 in Parkinson Disease |
|
|
|
|
|
|
|
|
|
| Mutants: On Genetic Variety and the Human Body |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Transmission-Ratio Distortion and Allele Sharing in Affected Sib Pairs: A New Linkage Statistic with Reduced Bias, with Application to Chromosome 6q25.3 |
|
|
|
|
|
|
|
|
|
| Germline PHOX2B Mutation in Hereditary Neuroblastoma |
|
|
|
|
|
|
|
|
|
| The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis |
|
|
|
|
|
|
|
|
|
| Guidelines for Genotyping in Genomewide Linkage Studies: Single-Nucleotide–Polymorphism Maps Versus Microsatellite Maps |
|
|
|
|
|
|
|
|
|
| The Longue Durée of Genetic Ancestry: Multiple Genetic Marker Systems and Celtic Origins on the Atlantic Facade of Europe |
|
|
|
|
|
|
|
|
|
| NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations |
|
|
|
|
|
|
|
|
|
| No “Bias” Toward the Null Hypothesis in Most Conventional Multipoint Nonparametric Linkage Analyses |
|
|
|
|
|
|
|
|
|
| Conventional Multipoint Nonparametric Linkage Analysis Is Not Necessarily Inherently Biased |
|
|
|
|
|
|
|
|
|
| “Bias toward the Null” Means Reduced Power |
|
|
|
|
|
|
|
|
|
| No Bias in Linkage Analysis |
|
|
|
|
|
|
|
|
|
| Got Bias? The Authors Reply |
|
|
|
|
|
|
|
|
|
| Mutation History of the Roma/Gypsies |
|
|
|
|
|
|
|
|
|
| Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1) |
|
|
|
|
|
|
|
|
|
| The G/G Genotype of a Resistin Single-Nucleotide Polymorphism at −420 Increases Type 2 Diabetes Mellitus Susceptibility by Inducing Promoter Activity through Specific Binding of Sp1/3 |
|
|
|
|
|
|
|
|
|
| Comparative Frequency of Fragile-X (FMR1) and Creatine Transporter (SLC6A8) Mutations in X-Linked Mental Retardation |
|
|
|
|
|
|
|
|
|
| Reply to Mandel |
|
|
|
|
|
|
|
|
|
| The IL12B Gene Is Associated with Asthma |
|
|
|
|
|
|
|
|
|
| Polymorphisms in the Trace Amine Receptor 4 (TRAR4) Gene on Chromosome 6q23.2 Are Associated with Susceptibility to Schizophrenia |
|
|
|
|
|
|
|
|
|
| Sequence-Based Linkage Analysis |
|
|
|
|
|
|
|
|
|
| Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis |
|
|
|
|
|
|
|
|
|
| Signatures of Selection and Gene Conversion Associated with Human Color Vision Variation |
|
|
|
|
|
|
|
|
|
| Microarray Analysis of Cell-Free Fetal DNA in Amniotic Fluid: a Prenatal Molecular Karyotype |
|
|
|
|
|
|
|
|
|
| Trisomy Recurrence: A Reconsideration Based on North American Data |
|
|
|
|
|
|
|
|
|
| Evidence for a Novel Late-Onset Alzheimer Disease Locus on Chromosome 19p13.2 |
|
|
|
|
|
|
|
|
|
| Are Sequence Family Variants Useful for Identifying Deletions in the Human Y Chromosome? |
|
|
|
|
|
|
|
|
|
| Reply to Repping et al. |
|
|
|
|
|
|
|
|
|
| Genomewide Scan for Gout in Taiwanese Aborigines Reveals Linkage to Chromosome 4q25 |
|
|
|
|
|
|
|
|
|
| Estimating the Rate of Gene Conversion on Human Chromosome 21 |
|
|
|
|
|
|
|
|
|
| Problematic Use of Greenberg's Linguistic Classification of the Americas in Studies of Native American Genetic Variation |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome |
|
|
|
|
|
|
|
|
|
| High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene |
|
|
|
|
|
|
|
|
|
| Efficient Computation of Significance Levels for Multiple Associations in Large Studies of Correlated Data, Including Genomewide Association Studies |
|
|
|
|
|
|
|
|
|
| Human Genome Epidemiology |
|
|
|
|
|
|
|
|
|
| Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12 |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish Families |
| Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE |
|
|
|
|
|
|
|
|
|
| Genetics and the Logic of Evolution |
|
|
|
|
|
|
|
|
|
| The Phylogeography of Mitochondrial DNA Haplogroup L3g in Africa and the Atlantic Slave Trade |
|
|
|
|
|
|
|
|
|
| Reply to Bortolini et al. |
|
|
|
|
|
|
|
|
|
| A Major Lung Cancer Susceptibility Locus Maps to Chromosome 6q23–25 |
|
|
|
|
|
|
|
|
|
| Replication Study Supports Evidence for Linkage to 9p24 in Obsessive-Compulsive Disorder |
|
|
|
|
|
|
|
|
|
| A Genomewide Scan for Early-Onset Coronary Artery Disease in 438 Families: The GENECARD Study |
|
|
|
|
|
|
|
|
|
| The Future of Association Studies: Gene-Based Analysis and Replication |
|
|
|
|
|
|
|
|
|
| Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study |
|
|
|
|
|
|
|
|
|
| Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3) |
|
|
|
|
|
|
|
|
|
| Age-Related Maculopathy: A Genomewide Scan with Continued Evidence of Susceptibility Loci within the 1q31, 10q26, and 17q25 Regions |
|
|
|
|
|
|
|
|
|
| Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation |
|
|
|
|
|
|
|
|
|
| Common Variants in the 5′ Region of the Leptin Gene Are Associated with Body Mass Index in Men from the National Heart, Lung, and Blood Institute Family Heart Study |
|
|
|
|
|
|
|
|
|
| Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation |
|
|
|
|
|
|
|
|
|
| Intergenerational Instability of the Expanded CTG Repeat in the DMPK Gene: Studies in Human Gametes and Preimplantation Embryos |
|
|
|
|
|
|
|
|
|
| Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease |
|
|
|
|
|
|
|
|
|
| Authenticity of Ancient-DNA Results: A Statistical Approach |
|
|
|
|
|
|
|
|
|
| A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis |
|
|
|
|
|
|
|
|
|
| High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage |
|
|
|
|
|
|
|
|
|
| Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation |
|
|
|
|
|
|
|
|
|
| A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases |
|
|
|
|
|
|
|
|
|
| A Susceptibility Locus for Myopia in the Normal Population Is Linked to the PAX6 Gene Region on Chromosome 11: A Genomewide Scan of Dizygotic Twins |
|
|
|
|
|
|
|
|
|
| Jane M. Olson (December 6, 1952–May 2, 2004) |
|
|
|
|
|
|
|
|
|
| SLEN2 (2q34–35) and SLEN1 (10q22.3) Replication in Systemic Lupus Erythematosus Stratified by Nephritis |
|
|
|
|
|
|
|
|
|
| Genomewide Linkage Scan for Bipolar-Disorder Susceptibility Loci among Ashkenazi Jewish Families |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35 |
|
|
|
|
|
|
|
|
|
| The Hereditary Basis of Allergic Disease |
|
|
|
|
|
|
|
|
|
| Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study |
|
|
|
|
|
|
|
|
|
| Autosomal Dominant Avascular Necrosis of Femoral Head in Two Taiwanese Pedigrees and Linkage to Chromosome 12q13 |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Large-Scale Single-Nucleotide Polymorphism (SNP) and Haplotype Analyses, Using Dense SNP Maps, of 199 Drug-Related Genes in 752 Subjects: the Analysis of the Association between Uncommon SNPs within H |
|
|
|
|
|
|
|
|
|
| A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa |
|
|
|
|
|
|
|
|
|
| The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome |
|
|
|
|
|
|
|
|
|
| Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux |
|
|
|
|
|
|
|
|
|
| Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates |
|
|
|
|
|
|
|
|
|
| High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation |
|
|
|
|
|
|
|
|
|
| Hypergonadotropic Ovarian Failure Associated with an Inherited Mutation of Human Bone Morphogenetic Protein-15 (BMP15) Gene |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium Mapping via Cladistic Analysis of Single-Nucleotide Polymorphism Haplotypes |
|
|
|
|
|
|
|
|
|
| On the Significance of Linkage Studies of Complex Traits: Reply to Newton-Cheh et al. |
|
|
|
|
|
|
|
|
|
| Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL |
|
|
|
|
|
|
|
|
|
| Theodore Reich, M.D. (1938–2003) |
|
|
|
|
|
|
|
|
|
| Theoretical and Empirical Power of Regression and Maximum-Likelihood Methods to Map Quantitative Trait Loci in General Pedigrees |
|
|
|
|
|
|
|
|
|
| Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia |
|
|
|
|
|
|
|
|
|
| A HOX Gene Mutation in a Family with Isolated Congenital Vertical Talus and Charcot-Marie-Tooth Disease |
|
|
|
|
|
|
|
|
|
| Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| Whole-Genome Scan, in a Complex Disease, Using 11,245 Single-Nucleotide Polymorphisms: Comparison with Microsatellites |
|
|
|
|
|
|
|
|
|
| Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe |
|
|
|
|
|
|
|
|
|
| On the Significance of Linkage Studies of Complex Traits |
|
|
|
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| A Common Haplotype of the Nicotine Acetylcholine Receptor α4 Subunit Gene Is Associated with Vulnerability to Nicotine Addiction in Men |
|
|
|
|
|
|
|
|
|
| Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen |
|
|
|
|
|
|
|
|
|
| Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome |
|
|
|
|
|
|
|
|
|
| Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease |
|
|
|
|
|
|
|
|
|
| Modes of Action of HLA-DR Susceptibility Specificities in Multiple Sclerosis |
|
|
|
|
|
|
|
|
|
| Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease Penetrance |
|
|
|
|
|
|
|
|
|
| Relevance of Connexin Deafness (DFNB1) to Human Evolution **This article represents the opinions of the authors and has not been peer-reviewed. |
|
|
|
|
|
|
|
|
|
| The T Allele of a Single-Nucleotide Polymorphism 13.9 kb Upstream of the Lactase Gene (LCT) (C−13.9kbT) Does Not Predict or Cause the Lactase-Persistence Phenotype in Africans |
|
|
|
|
|
|
|
|
|
| Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene |
|
|
|
|
|
|
|
|
|
| Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease |
|
|
|
|
|
|
|
|
|
| Mutated MESP2 Causes Spondylocostal Dysostosis in Humans |
|
|
|
|
|
|
|
|
|
| DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) |
|
|
|
|
|
|
|
|
|
| Graphical Modeling of the Joint Distribution of Alleles at Associated Loci |
|
|
|
|
|
|
|
|
|
| Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages |
|
|
|
|
|
|
|
|
|
| CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies |
|
|
|
|
|
|
|
|
|
| Linkage Analysis of a Complex Disease through Use of Admixed Populations |
|
|
|
|
|
|
|
|
|
| Extended Linkage Disequilibrium Surrounding the Hemoglobin E Variant Due to Malarial Selection |
|
|
|
|
|
|
|
|
|
| Mutations in the Human TBX4 Gene Cause Small Patella Syndrome |
|
|
|
|
|
|
|
|
|
| Penetrance and Expressivity of MSH6 Germline Mutations in Seven Kindreds Not Ascertained by Family History |
|
|
|
|
|
|
|
|
|
| Genomewide Significant Linkage to Recurrent, Early-Onset Major Depressive Disorder on Chromosome 15q |
|
|
|
|
|
|
|
|
|
| Offspring Gender Ratio and the Rate of Recurrent Spontaneous Miscarriages in Jewish Women at High Risk for Breast/Ovarian Cancer |
|
|
|
|
|
|
|
|
|
| Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome |
|
|
|
|
|
|
|
|
|
| Lost Paradises and the Ethics of Research and Publication. |
|
|
|
|
|
|
|
|
|
| Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10 |
|
|
|
|
|
|
|
|
|
| The Novel Gene Encoding a Putative Transmembrane Protein Is Mutated in Gnathodiaphyseal Dysplasia (GDD) |
|
|
|
|
|
|
|
|
|
| Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2 |
|
|
|
|
|
|
|
|
|
| Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment |
|
|
|
|
|
|
|
|
|
| Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) |
|
|
|
|
|
|
|
|
|
| A Comprehensive Survey of Human Y-Chromosomal Microsatellites |
|
|
|
|
|
|
|
|
|
| Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome |
|
|
|
|
|
|
|
|
|
| Chromosomal Abnormalities among Offspring of Childhood-Cancer Survivors in Denmark: A Population-Based Study |
|
|
|
|
|
|
|
|
|
| AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC |
|
|
|
|
|
|
|
|
|
| Bias toward the Null Hypothesis in Model-Free Linkage Analysis Is Highly Dependent on the Test Statistic Used |
|
|
|
|
|
|
|
|
|
| A Genomewide Scan Identifies Novel Early-Onset Primary Open-Angle Glaucoma Loci on 9q22 and 20p12 |
|
|
|
|
|
|
|
|
|
| Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2 |
|
|
|
|
|
|
|
|
|
| MSH2 c.1452–1455delAATG Is a Founder Mutation and an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Southern Chinese Population |
|
|
|
|
|
|
✓ |
|
Southern Chinese Population |
| Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area |
|
|
|
|
|
|
✓ |
|
Neolithization of Europe; Europe; Mediterranean area |
| Erratum |
|
|
|
|
|
|
|
|
|
| Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation |
|
|
|
|
|
|
|
|
|
| Little Loss of Information Due to Unknown Phase for Fine-Scale Linkage-Disequilibrium Mapping with Single-Nucleotide–Polymorphism Genotype Data |
|
|
|
|
|
|
|
|
|
| Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway |
|
|
|
|
|
|
|
|
|
| Design and Analysis of Admixture Mapping Studies |
|
|
|
|
|
|
|
|
|
| Ching Chun Li (1912–2003):A Personal Remembrance of a Hero of Genetics |
|
|
|
|
|
|
|
|
|
| Methods for High-Density Admixture Mapping of Disease Genes |
|
|
|
|
|
|
|
|
|
| Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor |
|
|
|
|
|
|
|
|
|
| Positional Cloning by Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| Myotonic Dystrophy: RNA Pathogenesis Comes into Focus |
|
|
|
|
|
|
|
|
|
| Linkage Disequilibrium Mapping of Schizophrenia Susceptibility to the CAPON Region of Chromosome 1q22 |
|
|
|
|
|
|
|
|
|
| Genomewide Linkage Analysis of Bipolar Disorder by Use of a High-Density Single-Nucleotide–Polymorphism (SNP) Genotyping Assay: A Comparison with Microsatellite Marker Assays and Finding of Significan |
|
|
|
|
|
|
|
|
|
| Natural Selection and Population History in the Human Angiotensinogen Gene (AGT): 736 Complete AGT Sequences in Chromosomes from Around the World |
|
|
|
|
|
|
|
|
|
| Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates |
|
|
|
|
|
|
|
|
|
| Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome |
|
|
|
|
|
|
|
|
|
| The Genetic Architecture of Selection at the Human Dopamine Receptor D4 (DRD4) Gene Locus |
|
|
|
|
|
|
|
|
|
| A High-Density Admixture Map for Disease Gene Discovery in African Americans |
|
|
|
|
|
|
|
|
|
| Inferring Phylogenies. |
|
|
|
|
|
|
|
|
|
| Analyses of Genetic Structure of Tibeto-Burman Populations Reveals Sex-Biased Admixture in Southern Tibeto-Burmans |
|
|
|
|
|
|
|
|
|
| Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer |
|
|
|
|
|
|
|
|
|
| Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa |
|
|
|
|
|
|
|
|
|
| The Fragile-X Premutation: A Maturing Perspective |
|
|
|
|
|
|
|
|
|
| Polymorphisms in the Low-Density Lipoprotein Receptor–Related Protein 5 (LRP5) Gene Are Associated with Variation in Vertebral Bone Mass, Vertebral Bone Size, and Stature in Whites |
|
|
|
|
|
|
|
|
|
| Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p |
|
|
|
|
|
|
|
|
|
| Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations |
|
|
|
|
|
|
|
|
|
| Huntington’s Disease |
|
|
|
|
|
|
|
|
|
| Entwined Lives: Twins and What They Tell Us about Human Behavior |
|
|
|
|
|
|
|
|
|
| A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts |
|
|
|
|
|
|
|
|
|
| Novel Analytical Methods Applied to Type 1 Diabetes Genome-Scan Data |
|
|
|
|
|
|
|
|
|
| Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q |
|
|
|
|
|
|
|
|
|
| Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly |
|
|
|
|
|
|
|
|
|
| A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other |
|
|
|
|
|
|
|
|
|
| High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta**Presented as a platform presentation at the National Meeting of the Ame |
|
|
|
|
|
|
|
|
|
| Power for Genetic Association Studies with Random Allele Frequencies and Genotype Distributions |
|
|
|
|
|
|
|
|
|
| The Etruscans: A Population-Genetic Study |
|
|
|
|
|
|
|
|
|
| Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4) |
|
|
|
|
|
|
|
|
|
| Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families |
|
|
|
|
|
|
✓ |
|
Ashkenazi and Sephardi/Oriental Jewish families |
| Errata |
|
|
|
|
|
|
|
|
|
| Epigenetics and Assisted Reproductive Technology: A Call for Investigation |
|
|
|
|
|
|
|
|
|
| Natural Selection and Molecular Evolution in PTC, a Bitter-Taste Receptor Gene |
|
|
|
|
|
|
|
|
|
| Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome |
|
|
|
|
|
|
|
|
|
| Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II |
|
|
|
|
|
|
|
|
|
| The Western and Eastern Roots of the Saami—the Story of Genetic “Outliers” Told by Mitochondrial DNA and Y Chromosomes |
|
|
|
|
|
|
|
|
|
| Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy |
|
|
|
|
|
|
|
|
|
| Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma |
|
|
|
|
|
|
|
|
|
| Variations in GABRA2, Encoding the α2 Subunit of the GABAA Receptor, Are Associated with Alcohol Dependence and with Brain Oscillations |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information |
|
|
|
|
|
|
|
|
|
| Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1 |
|
|
|
|
|
|
|
|
|
| Introductory Speech for Joan Marks**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 8, 2003. |
|
|
|
|
|
|
|
|
|
| Introductory Speech for Sir David Weatherall**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 7, 2003. |
|
|
|
|
|
|
|
|
|
| The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| X-Chromosome Inactivation Patterns Are Unbalanced and Affect the Phenotypic Outcome in a Mouse Model of Rett Syndrome |
|
|
|
|
|
|
|
|
|
| Impact of Genotyping Errors on Type I Error Rate of the Haplotype-Sharing Transmission/Disequilibrium Test (HS-TDT) |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| Melanocortin-4 Receptor Gene Variant I103 Is Negatively Associated with Obesity |
|
|
|
|
|
|
|
|
|
| On Low Expectations Exceeded; or, The Genomic Salvation of the Y Chromosome**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 8, 2003. |
|
|
|
|
|
|
|
|
|
| Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease |
|
|
|
|
|
|
|
|
|
| Genetics, Individuality, and Medicine in the 21st Century**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 5, 2003. |
|
|
|
|
|
|
|
|
|
| The Thalassemias: The Role of Molecular Genetics in an Evolving Global Health Problem**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November |
|
|
|
|
|
|
|
|
|
| Assessing Whether an Allele Can Account in Part for a Linkage Signal: The Genotype-IBD Sharing Test (GIST) |
|
|
|
|
|
|
|
|
|
| Introductory Speech for David Page**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 8, 2003. |
|
|
|
|
|
|
|
|
|
| 2003 Cotterman Award Winners |
|
|
|
|
|
|
|
|
|
| Multiple Comparisons in Studies of Gene × Gene and Gene × Environment Interaction |
|
|
|
|
|
|
|
|
|
| Revisiting the Clinical Validity of Multiplex Genetic Testing in Complex Diseases |
|
|
|
|
|
|
|
|
|
| Reply to Kraft |
|
|
|
|
|
|
|
|
|
| Revisiting the Clinical Validity of Multiplex Genetic Testing in Complex Diseases: Reply to Janssens et al. |
|
|
|
|
|
|
|
|
|
| Errata |
|
|
|
|
|
|
|
|
|
| Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age |
|
|
|
|
|
|
|
|
|
| X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family |
|
|
|
|
|
|
|
|
|
| Human Male Recombination Maps for Individual Chromosomes |
|
|
|
|
|
|
|
|
|
| Homozygous WNT3 Mutation Causes Tetra-Amelia in a Large Consanguineous Family |
|
|
|
|
|
|
|
|
|
| Incorporating Genotyping Uncertainty in Haplotype Inference for Single-Nucleotide Polymorphisms |
|
|
|
|
|
|
|
|
|
| Intracranial Aneurysms in Finnish Families: Confirmation of Linkage and Refinement of the Interval to Chromosome 19q13.3 |
|
|
|
|
|
|
✓ |
|
Finnish families |
| The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations |
|
|
|
|
|
|
|
|
|
| Reply to Knapp and Becker |
|
|
|
|
|
|
|
|
|
| Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik |
|
|
|
|
|
|
|
|
|
| Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I |
|
|
|
|
|
|
|
|
|
| The Importance of Genetic Counseling**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 8, 2003. |
|
|
|
|
|
|
|
|
|
| Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan |
|
|
|
|
|
|
|
|
|
| Both Rare and Common Polymorphisms Contribute Functional Variation at CHGA, a Regulator of Catecholamine Physiology |
|
|
|
|
|
|
|
|
|
| Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes? A Quantitative Assessment of Population and Family-Based Association Studies |
|
|
|
|
|
|
|
|
|
| Confirmation of Linkage to Chromosome 1q for Peak Vertebral Bone Mineral Density in Premenopausal White Women |
|
|
✓ |
|
|
|
|
|
|
| Erratum |
|
|
|
|
|
|
|
|
|
| Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection |
|
|
|
|
|
|
|
|
|
| Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activity via the RBP/JK Si |
|
|
|
|
|
|
|
|
|
| Genomewide Linkage Analysis for Internal Carotid Artery Intimal Medial Thickness: Evidence for Linkage to Chromosome 12 |
|
|
|
|
|
|
|
|
|
| Premature Myocardial Infarction Novel Susceptibility Locus on Chromosome 1P34-36 Identified by Genomewide Linkage Analysis |
|
|
|
|
|
|
|
|
|
| Joint Analysis of the DRD5 Marker Concludes Association with Attention-Deficit/Hyperactivity Disorder Confined to the Predominantly Inattentive and Combined Subtypes |
|
|
|
|
|
|
|
|
|
| Pleiotropic Effects of a Chromosome 3 Locus on Speech-Sound Disorder and Reading |
|
|
|
|
|
|
|
|
|
| PBAT: Tools for Family-Based Association Studies |
|
|
|
|
|
|
|
|
|
| Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein |
|
|
|
|
|
|
|
|
|
| Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II |
|
|
|
|
|
|
|
|
|
| Inherent Bias toward the Null Hypothesis in Conventional Multipoint Nonparametric Linkage Analysis |
|
|
|
|
|
|
|
|
|
| Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome |
|
|
|
|
|
|
|
|
|
| Matching Strategies for Genetic Association Studies in Structured Populations |
|
|
|
|
|
|
|
|
|
| Evidence of a Novel Quantitative-Trait Locus for Obesity on Chromosome 4p in Mexican Americans |
|
|
|
|
|
|
|
|
|
| Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations |
|
|
|
|
|
|
|
|
|
| The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats |
|
|
|
|
|
|
|
|
|
| Hormones, Genes, and Cancer |
|
|
|
|
|
|
|
|
|
| Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration |
|
|
|
|
|
|
|
|
|
| Linkage at 12q24 with Systemic Lupus Erythematosus (SLE) Is Established and Confirmed in Hispanic and European American Families |
|
|
|
|
✓ |
|
✓ |
|
European American; Hispanic |
| A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene |
|
|
|
|
|
|
|
|
|
| Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium |
|
|
|
|
|
|
|
|
|
| Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense |
|
|
|
|
|
|
|
|
|
| Population-Genetic Basis of Haplotype Blocks in the 5q31 Region |
|
|
|
|
|
|
|
|
|
| The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital |
|
|
|
|
|
|
|
|
|
| Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma |
|
|
|
|
|
|
|
|
|
| Evidence for Extensive Transmission Distortion in the Human Genome |
|
|
|
|
|
|
|
|
|
| A Large AZFc Deletion Removes DAZ3/DAZ4 and Nearby Genes from Men in Y Haplogroup N |
|
|
|
|
|
|
|
|
|
| Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese Family |
|
|
|
|
|
|
|
|
|
| The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval |
|
|
|
|
|
|
|
|
|
| The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time |
|
|
|
|
|
|
|
|
|
| Mapping Multiple Sclerosis Susceptibility to the HLA-DR Locus in African Americans |
|
|
|
|
|
|
|
|
|
| Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects |
|
|
|
|
|
|
|
|
|
| Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign |
|
|
|
|
|
|
|
|
|
| Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26) |
|
|
|
|
|
|
|
|
|
| Novel Vitiligo Susceptibility Loci on Chromosomes 7 (AIS2) and 8 (AIS3), Confirmation of SLEV1 on Chromosome 17, and Their Roles in an Autoimmune Diathesis |
|
|
|
|
|
|
|
|
|