American Journal of Human Genetics

Papers
(The TQCC of American Journal of Human Genetics is 18. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Genomic medicine year in review: 2021473
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia304
This month in The Journal293
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA289
2022 Curt Stern Award introduction: Heidi Rehm283
This month in The Journal247
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program236
“Choice of law” in precision medicine research184
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability177
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues167
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt166
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms127
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics120
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions111
Bayesian model comparison for rare-variant association studies107
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals105
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction104
Fast and accurate Bayesian polygenic risk modeling with variational inference101
Genetic determinants of IgG antibody response to COVID-19 vaccination99
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data95
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia92
The genomic signatures of natural selection in admixed human populations85
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions85
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer84
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease83
Optical genome mapping enables constitutional chromosomal aberration detection80
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact75
2022 ASHG presidential address—One human race: Billions of genomes69
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project66
This month in The Journal65
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome64
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results62
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals62
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags60
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants59
Accounting for age of onset and family history improves power in genome-wide association studies58
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores58
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder58
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits57
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index57
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome55
This Month in The Journal55
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus55
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders54
A spectrum of recessiveness among Mendelian disease variants in UK Biobank53
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics51
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing51
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity50
Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion50
2024 ASHG Scientific Achievement Award50
Addressing underrepresentation in genomics research through community engagement50
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD450
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants50
Structural biology in variant interpretation: Perspectives and practices from two studies49
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits49
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN47
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background47
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?47
Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades47
The ancestry and geographical origins of St Helena’s liberated Africans46
H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility46
2021 ASHG presidential address—Imagination and daring: Past, present, and future46
This month in The Journal46
Literature-based predictions of Mendelian disease therapies45
A new annual feature of AJHG: All of Us Research Program year in review45
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 203045
Genetics of cell-type-specific post-transcriptional gene regulation during human neurogenesis44
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts44
The association of cigarette smoking with DNA methylation and gene expression in human tissue samples44
Familial long-read sequencing increases yield of de novo mutations43
Robust genetic nurture effects on education: A systematic review and meta-analysis based on 38,654 families across 8 cohorts43
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA343
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial41
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics40
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models40
A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens39
Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations38
This month in The Journal38
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa38
This month in The Journal38
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity37
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications37
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder37
2023 ASHG presidential address—Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future37
This month in The Journal36
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 436
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites36
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies35
A powerful approach to identify replicable variants in genome-wide association studies35
2022 William Allan Award introduction: Peter Donnelly35
Pathogen exposure misclassification can bias association signals in GWAS of infectious diseases when using population-based common control subjects35
The ancestry and geographical origins of St Helena’s liberated Africans35
Demographic history and genetic variation of the Armenian population35
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans34
This Month in The Journal34
Inferring population structure in biobank-scale genomic data33
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation33
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects32
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome32
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection32
Significance tests for R2 of out-of-sample prediction using polygenic scores32
Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting32
This month in The Journal32
The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function32
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants32
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome32
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy32
Position effects at the FGF8 locus are associated with femoral hypoplasia31
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration31
This month in The Journal31
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders30
Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds30
Trio RNA sequencing in a cohort of medically complex children30
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation30
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population29
Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration29
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders29
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling29
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?29
Biobank-scale inference of multi-individual identity by descent and gene conversion29
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals29
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms29
This month in The Journal28
Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability28
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH227
Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic27
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring27
Misattributed paternity discovery: A critique of medical organizations’ recommendations27
EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies27
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study27
Response to Li and Hopper27
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB127
An allelic-series rare-variant association test for candidate-gene discovery26
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations26
Consequences of chromosome gain: A new view on trisomy syndromes26
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity26
Understanding changes in genetic literacy over time and in genetic research participants26
Exome variant discrepancies due to reference-genome differences25
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans25
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank25
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder25
CAG repeat mosaicism is gene specific in spinocerebellar ataxias25
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence25
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk25
Improved pathogenicity prediction for rare human missense variants25
75 years of The American Journal of Human Genetics25
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes24
2022 Victor A. McKusick Leadership Award24
Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating24
High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility24
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans24
A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer24
The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics24
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes23
Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries23
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway23
Implications of family history and polygenic risk scores for causation23
Toward clinical exomes in diagnostics and management of male infertility23
Opportunities and challenges of local ancestry in genetic association analyses23
Will variants of uncertain significance still exist in 2030?23
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing23
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature23
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans23
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders23
Overcoming constraints on the detection of recessive selection in human genes from population frequency data23
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus23
This month in The Journal23
Response to Bassett et al.22
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF1422
Genomic partitioning of inbreeding depression in humans22
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk22
This month in The Journal22
This month in The Journal22
A form of muscular dystrophy associated with pathogenic variants in JAG222
A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes22
STIGMA: Single-cell tissue-specific gene prioritization using machine learning22
Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation22
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets21
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome21
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms21
Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome21
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy21
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder21
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes21
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study20
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder20
Distinct explanations underlie gene-environment interactions in the UK Biobank20
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design20
International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review20
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia20
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes20
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions19
Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants19
Closing the loop: Editors' feedback on the ASHG readership survey19
High-throughput identification of regulatory elements and functional assays to uncover susceptibility genes for nasopharyngeal carcinoma19
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy19
Fast, accurate local ancestry inference with FLARE19
Exploring the noncoding genome with chromosomal structural rearrangements19
Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank19
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders19
Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts19
CHARR efficiently estimates contamination from DNA sequencing data19
The National Academies’ Roundtable on Genomics and Precision Health: Where we have been and where we are heading18
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations18
An integrated approach to identify environmental modulators of genetic risk factors for complex traits18
GWAS of longitudinal trajectories at biobank scale18
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement18
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case18
Addressing the challenges of polygenic scores in human genetic research18
Impact of genome build on RNA-seq interpretation and diagnostics18
Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services18
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature18
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease18
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis18
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data18
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup18
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