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Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program.
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
Erratum: IRF2BPL Is Associated with Neurological Phenotypes (The American Journal of Human Genetics (2018) 103(2) (245–260), (S0002929718302337) (10.1016/j.ajhg.2018.07.006)).
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood..
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848.
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011)).
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus.
Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
Decoding NF1 Intragenic Copy-Number Variations.
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.
Lupus risk variant increases pSTAT1 binding and decreases ETS1 expression.
MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.
Association of parkinson disease with structural and regulatory variants in the hla region.
Fine mapping and identification of BMI loci in African Americans.
Genome-wide association analysis of blood-pressure traits in african-ancestry individuals reveals common associated genes in African and Non-African populations.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans..
Genomic patterns of homozygosity in worldwide human populations.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Use of a multiethnic approach to identify rheumatoid- arthritis- susceptibility loci, 1p36 and 17q12.
Age-related somatic structural changes in the nuclear genome of human blood cells.
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.
Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease.
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011).
Population analysis of large copy number variants and hotspots of human genetic disease.
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project.
Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles.
Disruption of Neurexin 1 Associated with Autism Spectrum Disorder.
Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels (PII:S0002-9297(07)60902-1).
A new genetic disorder in mitochondrial fatty acid β-oxidation: ACAD9 deficiency.
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.
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.
Considerations for genomewide association studies in Parkinson disease .
Double inactivation of NF1 in tibial pseudarthrosis.
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.
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 HSP27.
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: Evidence of a common founder across European populations.
Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels.
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.
Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2.
Premature Myocardial Infarction Novel Susceptibility Locus on Chromosome 1P34-36 Identified by Genomewide Linkage Analysis.
Epigenetic control of hTERT expression and telomerase activity in differentiating leukemia HL60 cells..
"Are We There Yet?": Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative Traits.
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative-trait loci that influence variation in the human personality trait neuroticism.
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.
Extensive linkage disequilibrium, a common 16.7-kilobase deletion, and evidence of balancing selection in the human protocadherin α cluster.
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
Effect of winsorization on power and type 1 error of variance components and related methods of QTL detection..
Quantitative-Trait Loci on Chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 Control Variation in Levels of T and B Lymphocyte Subpopulations.
A combined analysis of genomewide linkage scans for body mass index, from the National Heart, Lung, and Blood Institute Family Blood Pressure Program.
Age at onset in two common neurodegenerative diseases is genetically controlled.
Bias in estimates of quantitative-trait-locus effect in genome scans: Demonstration of the phenomenon and a method-of-moments procedure for reducing bias.
PARK3 influences age at onset in Parkinson disease: A genome scan in the GenePD study.
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study.
Refined mapping of suggestive linkage to renal function in African Americans: The hyperGEN study .
Markers for Mapping by Admixture Linkage Disequilibrium in African American and Hispanic Populations.
Microarray analysis of changes in skeletal muscle gene expression in response to insulin..
Mitochondrial DNA and Y-chromosome haplotypes of Gullah-speaking African Americans show closer genetic distance to Sierra Leoneans and lower Caucasian admixture than other new world African populations..
A Genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases.
A genome scan for renal function among hypertensives: The HyperGEN study.
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.
Genome scan of human systemic lupus erythematosus by regression modeling: Evidence of linkage and epistasis at 4p16-15.2.
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci.
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes.
Parental attitudes toward genetic testing for pediatric deafness.
Testing the robustness of the new Haseman-Elston quantitative-trait loci-mapping procedure.
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations.
The number of trait loci in late-onset Alzheimer disease.
Role of human mitochondrial translocators in the import of nuclear encoded proteins..
A genomic screen of autism: Evidence for a multilocus etiology.
Genes, demography, and life span: The contribution of demographic data in genetic studies on aging and longevity.
Genetic linkage of hyper-IgE syndrome to chromosome 4.
Rh(mod) syndrome: A family study of the translation-initiator mutation in the Rh50 glycoprotein gene.
p53 Codon 72 polymorphism and longevity: Additional data on centenarians from continental Italy and Sardinia .
p53 variants predisposing to cancer are present in healthy centenarians .
An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians.
Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians.
Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
A new case report and further delineation of the Yunis-Varon syndrome..
A prospective study of cognitive health in the elderly (Oregon Brain Aging Study): Effects of family history and apolipoprotein E genotype.
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
Genomewide search for genes influencing percent body fat in Pima Indians: Suggestive linkage at chromosome 11q21-q22.
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.
Gender difference in apolipoprotein E - associated risk for familial alzheimer disease: A possible clue to the higher incidence of alzheimer disease in women.
Allele-specific replication of 15q11-q13 loci: A diagnostic test for detection of uniparental disomy.
Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
Evidence for familial factors that protect against dementia and outweigh the effect of increasing age.
The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease.
Genetic factors that protect against dementia .
A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Weidemann and associated embryonal tumor disease loci.
Chromosome 14 and late-onset familial Alzheimer disease (FAD).
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
Does the omission of missing information bias the estimates of age-at- onset distributions? .
Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis.
Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting.
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
Segregation analysis in Alzheimer disease: No evidence for a major gene .
A radiation hybrid map of the proximal long arm of human chromosome 11 containing the multiple endocrine neoplasia type 1 (MEN-1) and bcl-1 disease loci.
Segregation analysis reveals evidence of a major gene for Alzheimer disease.
Two frameshift mutations in the cystic fibrosis gene.
Estimation of morbid risk and age at onset with missing information.
Invited editorial: The end in sight for Huntington disease?.
Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages.
Methylation at the Huntington disease-linked D4S95 locus..
A simple method to detect and estimate heterogeneity: application to Huntington disease, diabetes, and HIV seroconversion.
Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).
Homozygote for Huntington disease.
Relative predispositional effects (RPEs) of marker alleles with disease: HLA-DR alleles and Graves disease.
Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes.
Analysis of genetic interrelationship among HLA-associated diseases.
Regionalization in hereditary IgA nephropathy.
Maternal factors in onset of Huntington disease.
The affected sib method. III. Selection and recombination..
The affected sib method. III. Selection and recombination.
Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.
Factors related to onset age of Huntington disease.
Normal activity and electrophoretic mobility of erythrocyte glucose-6-phosphate dehydrogenase in males with X-linked mental retardation and the fragile Xq..