American Journal of Human Genetics

Journal

Publication Venue For

  • Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.  104:701-708. 2019
  • Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.  104:112-138. 2019
  • Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.  103:1022-1029. 2018
  • Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.  103:691-706. 2018
  • 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)).  103:456. 2018
  • The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.  103:319-327. 2018
  • Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood..  102:1185-1194. 2018
  • Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.  102:985-994. 2018
  • A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.  102:375-400. 2018
  • Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.  102:494-504. 2018
  • Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848.  102:69-87. 2018
  • DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation.  101:888-902. 2017
  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.  101:664-685. 2017
  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.  100:843-853. 2017
  • Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.  100:751-765. 2017
  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.  100:128-137. 2017
  • Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.  100:117-127. 2017
  • De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.  99:991-999. 2016
  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.  99:711-719. 2016
  • De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.  99:720-727. 2016
  • 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)).  99:246. 2016
  • Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.  99:8-21. 2016
  • Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin.  99:56-75. 2016
  • Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.  98:1051-1066. 2016
  • Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus.  98:185-201. 2016
  • Sequence-Level Analysis of the Major European Huntington Disease Haplotype.  97:435-444. 2015
  • Decoding NF1 Intragenic Copy-Number Variations.  97:238-249. 2015
  • Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.  96:283-294. 2015
  • Lupus risk variant increases pSTAT1 binding and decreases ETS1 expression.  96:731-739. 2015
  • MAT2A mutations predispose individuals to thoracic aortic aneurysms.  96:170-177. 2015
  • Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.  94:586-598. 2014
  • Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.  95:462-471. 2014
  • Association of parkinson disease with structural and regulatory variants in the hla region.  93:984-993. 2013
  • Fine mapping and identification of BMI loci in African Americans.  93:661-671. 2013
  • Genome-wide association analysis of blood-pressure traits in african-ancestry individuals reveals common associated genes in African and Non-African populations.  93:545-554. 2013
  • Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans..  91:778-793. 2012
  • Genomic patterns of homozygosity in worldwide human populations.  91:275-292. 2012
  • Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.  90:836-846. 2012
  • Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.  90:648-660. 2012
  • Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.  90:434-444. 2012
  • Use of a multiethnic approach to identify rheumatoid- arthritis- susceptibility loci, 1p36 and 17q12.  90:524-532. 2012
  • Age-related somatic structural changes in the nuclear genome of human blood cells.  90:217-228. 2012
  • Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.  89:619-627. 2011
  • Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.  88:83-91. 2011
  • Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease.  84:617-627. 2009
  • Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011).  83:425-427. 2008
  • Population analysis of large copy number variants and hotspots of human genetic disease.  84:148-161. 2008
  • Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project.  82:712-722. 2008
  • Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles.  82:763-771. 2008
  • Disruption of Neurexin 1 Associated with Autism Spectrum Disorder.  82:199-207. 2008
  • Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels (PII:S0002-9297(07)60902-1).  82:251. 2008
  • A new genetic disorder in mitochondrial fatty acid β-oxidation: ACAD9 deficiency.  81:87-103. 2007
  • 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.  80:140-151. 2007
  • Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.  80:792-799. 2007
  • Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.  80:769-778. 2007
  • Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.  81:243-251. 2007
  • Considerations for genomewide association studies in Parkinson disease [1].  78:1081-1082. 2006
  • Double inactivation of NF1 in tibial pseudarthrosis.  79:143-148. 2006
  • 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.  79:752-758. 2006
  • 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.  79:197-213. 2006
  • Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.  77:205-218. 2005
  • Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: Evidence of a common founder across European populations.  76:672-680. 2005
  • Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels.  77:64-77. 2005
  • 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.  75:220-230. 2004
  • Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2.  75:398-409. 2004
  • Premature Myocardial Infarction Novel Susceptibility Locus on Chromosome 1P34-36 Identified by Genomewide Linkage Analysis.  74:262-271. 2004
  • Epigenetic control of hTERT expression and telomerase activity in differentiating leukemia HL60 cells..  73:336-336. 2003
  • "Are We There Yet?": Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative Traits.  73:711-719. 2003
  • A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.  73:682-687. 2003
  • Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative-trait loci that influence variation in the human personality trait neuroticism.  72:879-890. 2003
  • Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.  72:804-811. 2003
  • Extensive linkage disequilibrium, a common 16.7-kilobase deletion, and evidence of balancing selection in the human protocadherin α cluster.  72:621-635. 2003
  • FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.  72:478-487. 2003
  • Effect of winsorization on power and type 1 error of variance components and related methods of QTL detection..  71:571-571. 2002
  • 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.  70:1172-1182. 2002
  • A combined analysis of genomewide linkage scans for body mass index, from the National Heart, Lung, and Blood Institute Family Blood Pressure Program.  70:1247-1256. 2002
  • Age at onset in two common neurodegenerative diseases is genetically controlled.  70:985-993. 2002
  • Bias in estimates of quantitative-trait-locus effect in genome scans: Demonstration of the phenomenon and a method-of-moments procedure for reducing bias.  70:575-585. 2002
  • PARK3 influences age at onset in Parkinson disease: A genome scan in the GenePD study.  70:1089-1095. 2002
  • 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.  70:1305-1317. 2002
  • Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study.  70:72-82. 2002
  • Refined mapping of suggestive linkage to renal function in African Americans: The hyperGEN study [1].  71:204-205. 2002
  • Markers for Mapping by Admixture Linkage Disequilibrium in African American and Hispanic Populations.  69:1080-1094. 2001
  • Microarray analysis of changes in skeletal muscle gene expression in response to insulin..  69:451-451. 2001
  • 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..  69:227-227. 2001
  • A Genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases.  68:927-936. 2001
  • A genome scan for renal function among hypertensives: The HyperGEN study.  68:136-144. 2001
  • An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.  69:791-803. 2001
  • Genome scan of human systemic lupus erythematosus by regression modeling: Evidence of linkage and epistasis at 4p16-15.2.  67:1460-1469. 2000
  • Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci.  66:1863-1870. 2000
  • NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes.  66:100-109. 2000
  • Parental attitudes toward genetic testing for pediatric deafness.  67:1621-1625. 2000
  • Testing the robustness of the new Haseman-Elston quantitative-trait loci-mapping procedure.  67:249-252. 2000
  • The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations.  67:207-212. 2000
  • The number of trait loci in late-onset Alzheimer disease.  66:196-204. 2000
  • Role of human mitochondrial translocators in the import of nuclear encoded proteins..  65:A182-A182. 1999
  • A genomic screen of autism: Evidence for a multilocus etiology.  65:493-507. 1999
  • Genes, demography, and life span: The contribution of demographic data in genetic studies on aging and longevity.  65:1178-1193. 1999
  • Genetic linkage of hyper-IgE syndrome to chromosome 4.  65:735-744. 1999
  • Rh(mod) syndrome: A family study of the translation-initiator mutation in the Rh50 glycoprotein gene.  64:108-117. 1999
  • p53 Codon 72 polymorphism and longevity: Additional data on centenarians from continental Italy and Sardinia [4].  65:1782-1785. 1999
  • p53 variants predisposing to cancer are present in healthy centenarians [2].  64:292-294. 1999
  • An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians.  63:1130-1138. 1998
  • Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians.  62:659-668. 1998
  • Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.  63:1086-1094. 1998
  • Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.  62:1370-1380. 1998
  • A new case report and further delineation of the Yunis-Varon syndrome..  61:A368-A368. 1997
  • A prospective study of cognitive health in the elderly (Oregon Brain Aging Study): Effects of family history and apolipoprotein E genotype.  60:948-956. 1997
  • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.  60:555-564. 1997
  • Genomewide search for genes influencing percent body fat in Pima Indians: Suggestive linkage at chromosome 11q21-q22.  60:166-173. 1997
  • Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.  61:1287-1292. 1997
  • The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.  61:918-923. 1997
  • Gender difference in apolipoprotein E - associated risk for familial alzheimer disease: A possible clue to the higher incidence of alzheimer disease in women.  58:803-811. 1996
  • Allele-specific replication of 15q11-q13 loci: A diagnostic test for detection of uniparental disomy.  59:423-430. 1996
  • Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.  58:1247-1253. 1996
  • A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.  56:938-943. 1995
  • Evidence for familial factors that protect against dementia and outweigh the effect of increasing age.  54:650-657. 1994
  • The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease.  54:631-642. 1994
  • Genetic factors that protect against dementia [6].  55:588-589. 1994
  • A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Weidemann and associated embryonal tumor disease loci.  52:915-921. 1993
  • Chromosome 14 and late-onset familial Alzheimer disease (FAD).  53:619-628. 1993
  • The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.  53:125-130. 1993
  • Does the omission of missing information bias the estimates of age-at- onset distributions? [5].  50:652-654. 1992
  • Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis.  50:278-287. 1992
  • Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting.  50:528-535. 1992
  • Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.  51:998-1014. 1992
  • Recombination of 4p16 DNA markers in an unusual family with Huntington disease.  50:1218-1230. 1992
  • Segregation analysis in Alzheimer disease: No evidence for a major gene [2].  50:645-648. 1992
  • 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.  49:1189-1196. 1991
  • Segregation analysis reveals evidence of a major gene for Alzheimer disease.  48:1026-1033. 1991
  • Two frameshift mutations in the cystic fibrosis gene.  48:227-231. 1991
  • Immunochemical studies of ferrochelatase protein: Characterization of the normal and mutant protein in bovine and human protoporphyria.  48:72-78. 1991
  • Estimation of morbid risk and age at onset with missing information.  49:76-87. 1991
  • Invited editorial: The end in sight for Huntington disease?.  49:1-6. 1991
  • Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages.  46:613-623. 1990
  • Methylation at the Huntington disease-linked D4S95 locus..  45:335-336. 1989
  • A simple method to detect and estimate heterogeneity: application to Huntington disease, diabetes, and HIV seroconversion.  44:107-114. 1989
  • Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).  44:30-32. 1989
  • Homozygote for Huntington disease.  45:615-618. 1989
  • Relative predispositional effects (RPEs) of marker alleles with disease: HLA-DR alleles and Graves disease.  45:541-546. 1989
  • Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes.  42:542-549. 1988
  • Analysis of genetic interrelationship among HLA-associated diseases.  41:331-349. 1987
  • Regionalization in hereditary IgA nephropathy.  41:36-50. 1987
  • Maternal factors in onset of Huntington disease.  37:511-523. 1985
  • The affected sib method. III. Selection and recombination..  36:352-362. 1984
  • The affected sib method. III. Selection and recombination.  36:353-362. 1984
  • Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.  34:966-971. 1982
  • Bovine protoporphyria: Documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity.  34:322-330. 1982
  • Factors related to onset age of Huntington disease.  34:481-488. 1982
  • Normal activity and electrophoretic mobility of erythrocyte glucose-6-phosphate dehydrogenase in males with X-linked mental retardation and the fragile Xq..  33:826-828. 1981
  • International Standard Serial Number (issn)

  • 0002-9297
  • Electronic International Standard Serial Number (eissn)

  • 1537-6605