American Journal of Human Genetics

Article	Citations
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia	490
This month in The Journal	308
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	302
This month in The Journal	297
“Choice of law” in precision medicine research	254
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	243
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	191
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	182
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	172
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	168
Bayesian model comparison for rare-variant association studies	132
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction	132
Genomic medicine year in review: 2021	116
2022 Curt Stern Award introduction: Heidi Rehm	113
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	109
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	108
The genomic signatures of natural selection in admixed human populations	104
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	100
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	89
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	87
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	87
Fast and accurate Bayesian polygenic risk modeling with variational inference	86
Genetic determinants of IgG antibody response to COVID-19 vaccination	83
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	76
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals	66

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	66
Optical genome mapping enables constitutional chromosomal aberration detection	66
This month in The Journal	65
2022 ASHG presidential address—One human race: Billions of genomes	65
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	63
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	62
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	62
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	61
This month in The Journal	60
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	60
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	59
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	58
This Month in The Journal	57
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders	57
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	56
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	56
Accounting for age of onset and family history improves power in genome-wide association studies	52
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	52
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	52
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	52
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	52
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	51
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	51
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	50
2024 ASHG Scientific Achievement Award	50
Structural biology in variant interpretation: Perspectives and practices from two studies	50
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits	50
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4	49
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants	48
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 2030	48
This month in The Journal	48
Literature-based predictions of Mendelian disease therapies	48
2021 ASHG presidential address—Imagination and daring: Past, present, and future	47
The ancestry and geographical origins of St Helena’s liberated Africans	47
Genetics of cell-type-specific post-transcriptional gene regulation during human neurogenesis	46
A new annual feature of AJHG: All of Us Research Program year in review	46
Robust genetic nurture effects on education: A systematic review and meta-analysis based on 38,654 families across 8 cohorts	45
Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades	45
Familial long-read sequencing increases yield of de novo mutations	45
Addressing underrepresentation in genomics research through community engagement	44
H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility	43
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics	43
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3	43
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts	42
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics	41
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN	41
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity	41
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models	40
The association of cigarette smoking with DNA methylation and gene expression in human tissue samples	40
Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion	40

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial	40
This month in The Journal	40
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity	39
This month in The Journal	39
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder	39
2023 ASHG presidential address—Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future	39
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications	38
A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens	38
Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations	38
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites	36
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa	36
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4	36
This month in The Journal	36
2022 William Allan Award introduction: Peter Donnelly	36
A powerful approach to identify replicable variants in genome-wide association studies	35
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects	35
Pathogen exposure misclassification can bias association signals in GWAS of infectious diseases when using population-based common control subjects	35
This Month in The Journal	35
The ancestry and geographical origins of St Helena’s liberated Africans	34
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies	34
Demographic history and genetic variation of the Armenian population	34
Inferring population structure in biobank-scale genomic data	33
Significance tests for R2 of out-of-sample prediction using polygenic scores	33
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation	33
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants	33
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome	32
The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function	32
This month in The Journal	32
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans	32
Position effects at the FGF8 locus are associated with femoral hypoplasia	31
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome	31
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration	31
This month in The Journal	31
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection	31
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders	30
Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting	30
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms	30
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population	30
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals	29
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling	29
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders	29
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation	29
Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds	29
Trio RNA sequencing in a cohort of medically complex children	29
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?	29
This month in The Journal	28
Biobank-scale inference of multi-individual identity by descent and gene conversion	28
EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies	28
Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability	28
Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic	27
Response to Li and Hopper	27
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring	27
75 years of The American Journal of Human Genetics	26
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence	26
Misattributed paternity discovery: A critique of medical organizations’ recommendations	26
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study	26
An allelic-series rare-variant association test for candidate-gene discovery	25
A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer	25
Exome variant discrepancies due to reference-genome differences	25
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder	25
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy	25
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1	25
Consequences of chromosome gain: A new view on trisomy syndromes	25
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank	25
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes	25
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans	25
Improved pathogenicity prediction for rare human missense variants	24
Understanding changes in genetic literacy over time and in genetic research participants	24
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans	24
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk	24
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity	24
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations	24
CAG repeat mosaicism is gene specific in spinocerebellar ataxias	24
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2	24
High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility	24
2022 Victor A. McKusick Leadership Award	24
Will variants of uncertain significance still exist in 2030?	23
Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries	23
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing	23
Opportunities and challenges of local ancestry in genetic association analyses	23

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders	23
Implications of family history and polygenic risk scores for causation	23
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway	23
Overcoming constraints on the detection of recessive selection in human genes from population frequency data	23
The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics	23
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans	23
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus	23
Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating	23
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature	23
This month in The Journal	23
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes	22
Response to Bassett et al.	22
This month in The Journal	22
Toward clinical exomes in diagnostics and management of male infertility	22
Genomic partitioning of inbreeding depression in humans	22
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14	22
A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes	22
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design	21
STIGMA: Single-cell tissue-specific gene prioritization using machine learning	21
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study	21
This month in The Journal	21
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder	21
International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review	21
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk	21
Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation	21
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome	20
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets	20
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes	20
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia	20
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy	20
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes	20
Distinct explanations underlie gene-environment interactions in the UK Biobank	20
Fast, accurate local ancestry inference with FLARE	20
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms	19
Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome	19
High-throughput identification of regulatory elements and functional assays to uncover susceptibility genes for nasopharyngeal carcinoma	19
Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression	19
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder	19
Exploring the noncoding genome with chromosomal structural rearrangements	19
Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants	19
CHARR efficiently estimates contamination from DNA sequencing data	19
Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets	19
Closing the loop: Editors' feedback on the ASHG readership survey	19
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions	19
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case	18
Role of X chromosome and dosage-compensation mechanisms in complex trait genetics	18
Addressing the challenges of polygenic scores in human genetic research	18
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy	18
Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services	18
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature	18
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data	18
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis	18
GWAS of longitudinal trajectories at biobank scale	18
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 concentrations	18
Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank	18
Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts	18
Impact of genome build on RNA-seq interpretation and diagnostics	18
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range	18