American Journal of Human Genetics

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.  110:215-227. 2023

Closing the loop: Editors' feedback on the ASHG readership survey.  109:977-978. 2022

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.  109:361-372. 2022

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.  109:136-156. 2022

Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes.  109:81-96. 2022

Describing human populations: An evolving picture in human genetics research.  108:2207. 2021

Conceptualization of utility in translational clinical genomics research.  108:2027-2036. 2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.  108:1138-1150. 2021

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.  108:857-873. 2021

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.  108:502-516. 2021

Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.  108:431-445. 2021

Generalizability of “GWAS Hits” in Clinical Populations: Lessons from Childhood Cancer Survivors.  107:636-653. 2020

Genome-wide Study Identifies Association between HLA-B^∗55:01 and Self-Reported Penicillin Allergy.  107:612-621. 2020

Response to Holstege et al..  107:577-578. 2020

Genetic Consequences of the Transatlantic Slave Trade in the Americas.  107:265-277. 2020

The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family.  106:727-728. 2020

Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.  106:632-645. 2020

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.  105:1040-1047. 2019

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.  105:854-868. 2019

Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program.  105:706-718. 2019

Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014)).  105:672-674. 2019

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.  105:413-424. 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.  104:1127-1138. 2019

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.  104:1088-1096. 2019

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.  104:701-708. 2019

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.  104:422-438. 2019

Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.  104:112-138. 2019

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.  104:164-178. 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

IRF2BPL Is Associated with Neurological Phenotypes.  103:245-260. 2018

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.  103:154-162. 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

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.  97:435-444. 2015

Decoding NF1 Intragenic Copy-Number Variations.  97:238-249. 2015

Lupus risk variant increases pSTAT1 binding and decreases ETS1 expression.  96:731-739. 2015

Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.  96:283-294. 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

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.  94:233-245. 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

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.  91:872-882. 2012

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

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.  88:201-206. 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

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

Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation.  69:1134-1140. 2001

Genome scan of human systemic lupus erythematosus by regression modeling: Evidence of linkage and epistasis at 4p16-15.2.  67:1460-1469. 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

Fine mapping of the diabetes-susceptibility locus, IDDM4, on chromosome 11q13.  63:547-556. 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

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).  51:1213-1217. 1992

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

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

Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred.  36:131-142. 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

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

Efficiency and robustness of pedigree segregation analysis.  30:28-37. 1978

Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.  25:604-609. 1973