Am J Hum Genet

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  Publication Venue For

  • Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts. 2023
  • Addressing the challenges of polygenic scores in human genetic research..  109:2095-2100. 2022
  • Genomic Medicine Year in Review: 2022..  109:2101-2104. 2022
  • A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes..  109:1814-1827. 2022
  • Addressing underrepresentation in genomics research through community engagement..  109:1563-1571. 2022
  • Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita..  109:1472-1483. 2022
  • Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits..  109:1286-1297. 2022
  • Genomic medicine year in review: 2021..  108:2210-2214. 2021
  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals..  108:2024. 2021
  • The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading..  108:1817-1822. 2021
  • Targeted long-read sequencing identifies missing disease-causing variation..  108:1436-1449. 2021
  • Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation..  108:1342-1349. 2021
  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals..  108:965-982. 2021
  • Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder..  108:929-941. 2021
  • Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry..  108:564-582. 2021
  • Rare and de novo coding variants in chromodomain genes in Chiari I malformation..  108:530-531. 2021
  • De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis..  108:357-367. 2021
  • Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction..  108:346-356. 2021
  • Rare and de novo coding variants in chromodomain genes in Chiari I malformation..  108:368. 2021
  • Rare and de novo coding variants in chromodomain genes in Chiari I malformation..  108:100-114. 2021
  • Genomic Medicine Year in Review: 2020..  107:1007-1010. 2020
  • NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism..  107:963-976. 2020
  • Genotyping Array Design and Data Quality Control in the Million Veteran Program..  106:535-548. 2020
  • Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects..  106:26-40. 2020
  • Genomic Medicine Year in Review: 2019..  105:1072-1075. 2019
  • A Genocentric Approach to Discovery of Mendelian Disorders..  105:974-986. 2019
  • Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level..  105:1057-1068. 2019
  • Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1..  105:894-906. 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
  • Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies..  105:763-772. 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
  • De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies..  105:640-657. 2019
  • Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders..  105:631-639. 2019
  • Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network..  105:588-605. 2019
  • Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis..  105:549-561. 2019
  • De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia..  105:283-301. 2019
  • Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways..  105:334-350. 2019
  • The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research..  104:1088-1096. 2019
  • A Global Collaborative to Advance Genomic Medicine..  104:407-409. 2019
  • Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes..  104:422-438. 2019
  • De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias..  104:562. 2019
  • GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish..  104:503-519. 2019
  • Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability..  104:530-541. 2019
  • Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance..  104:299-309. 2019
  • Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder..  104:287-298. 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
  • Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies..  104:94-111. 2019
  • 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
  • Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia..  103:421-430. 2018
  • IRF2BPL Is Associated with Neurological Phenotypes..  103:456. 2018
  • Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements..  103:457. 2018
  • An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome..  103:232-244. 2018
  • IRF2BPL Is Associated with Neurological Phenotypes..  103:245-260. 2018
  • Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia..  102:744-759. 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
  • Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects..  102:88-102. 2018
  • Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila..  102:44-57. 2018
  • DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation..  101:888-902. 2017
  • Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"..  101:815-823. 2017
  • Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements..  101:616-622. 2017
  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome..  100:843-853. 2017
  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay..  100:343-351. 2017
  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3..  100:128-137. 2017
  • De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies..  100:179. 2017
  • De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype..  100:179. 2017
  • De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype..  99:991-999. 2016
  • REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants..  99:877-885. 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 Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies..  99:287-298. 2016
  • Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy..  99:423-429. 2016
  • Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man..  99:521. 2016
  • Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits..  99:8-21. 2016
  • Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases..  99:22-39. 2016
  • Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals..  99:40-55. 2016
  • Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin..  99:56-75. 2016
  • DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis..  98:680-696. 2016
  • Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans..  98:229-242. 2016
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia..  97:837-847. 2015
  • Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss..  97:457-464. 2015
  • Incorporating Functional Information in Tests of Excess De Novo Mutational Load..  97:272-283. 2015
  • The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease..  97:111-124. 2015
  • Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies..  96:816-825. 2015
  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay..  96:462-473. 2015
  • Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder..  96:283-294. 2015
  • Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension..  96:21-36. 2015
  • De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies..  95:360-370. 2014
  • Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia..  95:24-38. 2014
  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders..  94:677-694. 2014
  • Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks..  94:223-232. 2014
  • Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol..  94:233-245. 2014
  • 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
  • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing..  93:249-263. 2013
  • Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error..  93:264-277. 2013
  • Mutations in SCO2 are associated with autosomal-dominant high-grade myopia..  92:820-826. 2013
  • Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria..  92:627-631. 2013
  • Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes..  92:439-447. 2013
  • Deep whole-genome sequencing of 100 southeast Asian Malays..  92:52-66. 2013
  • Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed site..  92:5-14. 2013
  • AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes..  91:890-896. 2012
  • Discovery and fine mapping of serum protein loci through transethnic meta-analysis..  91:744-753. 2012
  • Using ERDS to infer copy-number variants in high-coverage genomes..  91:408-421. 2012
  • Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy..  91:293-302. 2012
  • Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia..  91:303-312. 2012
  • PSORS2 is due to mutations in CARD14..  90:784-795. 2012
  • Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man..  90:457-466. 2012
  • Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes..  86:707-718. 2010
  • Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p..  86:45-53. 2010
  • Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection..  85:923-928. 2009
  • A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease..  85:214-227. 2009
  • Association test for X-linked QTL in family-based designs..  84:431-444. 2009
  • Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3..  84:511-518. 2009
  • Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18..  84:499-504. 2009
  • Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3..  84:519-523. 2009
  • Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease..  84:35-43. 2009
  • Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein..  82:283-289. 2008
  • No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma..  86:498-499. 2010