American Journal of Human Genetics

Article	Citations
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	389
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	380
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	368
The genomic signatures of natural selection in admixed human populations	273
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	210
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	192
“Choice of law” in precision medicine research	141
Genomic medicine year in review: 2021	127
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	127
This month in The Journal	124
2022 Curt Stern Award introduction: Heidi Rehm	123
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	103
This month in The Journal	100
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	84
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	79
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	78
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	76
Bayesian model comparison for rare-variant association studies	72
Fast and accurate Bayesian polygenic risk modeling with variational inference	72
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	71
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	69
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	69
Genetic determinants of IgG antibody response to COVID-19 vaccination	67
This month in The Journal	66
This Month in The Journal	66

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	65
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	63
2022 ASHG presidential address—One human race: Billions of genomes	62
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	61
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	60
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	58
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	58
This month in The Journal	58
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	57
Accounting for age of onset and family history improves power in genome-wide association studies	57
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	56
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	54
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	52
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	52
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	51
Literature-based predictions of Mendelian disease therapies	51
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	51
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	51
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	51
2021 ASHG presidential address—Imagination and daring: Past, present, and future	50
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	49
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing	48
This month in The Journal	48
Genetics of cell-type-specific post-transcriptional gene regulation during human neurogenesis	48
2024 ASHG Scientific Achievement Award	48
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants	47
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	47
A new annual feature of AJHG: All of Us Research Program year in review	46
Structural biology in variant interpretation: Perspectives and practices from two studies	45
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3	44
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits	43
Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion	43
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4	42
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics	42
Familial long-read sequencing increases yield of de novo mutations	42
The association of cigarette smoking with DNA methylation and gene expression in human tissue samples	41
Addressing underrepresentation in genomics research through community engagement	41
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN	40
H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility	40
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 2030	39
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics	39
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity	38
Using the ancestral recombination graph to study the history of rare variants in founder populations	38
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts	38
The ancestry and geographical origins of St Helena’s liberated Africans	38
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial	38
Exploring the omnigenic architecture of selected complex traits	37
Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades	37
2023 ASHG presidential address—Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future	36
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity	36

This month in The Journal	36
Extremely early genomic events and temporal order of esophageal squamous cell carcinogenesis: Longitudinal self-comparison of progressors and non-progressors	35
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models	35
Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits	35
This month in The Journal	35
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa	35
A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens	34
Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations	34
Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications	34
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites	34
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy	34
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4	33
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications	33
This Month in The Journal	32
Demographic history and genetic variation of the Armenian population	32
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants	32
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes	32
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans	32
Pathogen exposure misclassification can bias association signals in GWAS of infectious diseases when using population-based common control subjects	31
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome	31
2022 William Allan Award introduction: Peter Donnelly	31
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects	31
COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction	31
The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function	31
A powerful approach to identify replicable variants in genome-wide association studies	31
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation	30
The ancestry and geographical origins of St Helena’s liberated Africans	30
Inferring population structure in biobank-scale genomic data	30
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies	29
This month in The Journal	29
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome	29
Significance tests for R2 of out-of-sample prediction using polygenic scores	29
Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting	29
Haplotype analysis reveals pleiotropic disease associations in the HLA region	28
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration	28
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders	27
Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench	27
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals	27
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms	27
Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds	27
Trio RNA sequencing in a cohort of medically complex children	27
Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability	27
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation	27
The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics	27
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population	27
Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic	26
Landscapes of missense variant impact for human superoxide dismutase 1	26
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?	26
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling	26
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection	26
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence	26
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders	26
Biobank-scale inference of multi-individual identity by descent and gene conversion	26
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder	25
Response to Li and Hopper	25
Misattributed paternity discovery: A critique of medical organizations’ recommendations	25
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes	25
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank	25
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy	25
This month in The Journal	25
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity	24
An allelic-series rare-variant association test for candidate-gene discovery	24
A scalable framework for identifying allelic series from summary statistics	24
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1	24
75 years of The American Journal of Human Genetics	24
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans	24
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2	24
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations	24
Consequences of chromosome gain: A new view on trisomy syndromes	24
High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility	24
CAG repeat mosaicism is gene specific in spinocerebellar ataxias	24
Understanding changes in genetic literacy over time and in genetic research participants	24
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study	24
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk	24
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring	23
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans	23
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature	23
A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer	23
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway	23
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans	23

Overcoming constraints on the detection of recessive selection in human genes from population frequency data	23
Will variants of uncertain significance still exist in 2030?	22
The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics	22
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes	22
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14	22
Implications of family history and polygenic risk scores for causation	22
Opportunities and challenges of local ancestry in genetic association analyses	22
Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating	22
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing	22
This month in The Journal	22
2022 Victor A. McKusick Leadership Award	22
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder	21
Toward clinical exomes in diagnostics and management of male infertility	21
Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking	21
Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets	21
Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries	21
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design	21
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia	21
Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation	20
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	20
This month in The Journal	20
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk	20
Response to Bassett et al.	20
This month in The Journal	20
STIGMA: Single-cell tissue-specific gene prioritization using machine learning	20
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy	20
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome	20
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study	20
Distinct explanations underlie gene-environment interactions in the UK Biobank	19
Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans	19
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes	19
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome	19
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder	19
Estimating gene conversion rates from population data using multi-individual identity by descent	19
Fast, accurate local ancestry inference with FLARE	19
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes	19
Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies	19
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets	18
Closing the loop: Editors' feedback on the ASHG readership survey	18
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature	18
Addressing the challenges of polygenic scores in human genetic research	18
Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants	18
Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome	18
Exploring the noncoding genome with chromosomal structural rearrangements	18
Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression	18
Role of X chromosome and dosage-compensation mechanisms in complex trait genetics	18
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy	18
International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review	18
CHARR efficiently estimates contamination from DNA sequencing data	18
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case	18
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data	18
Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services	18
Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations	17
GWAS of longitudinal trajectories at biobank scale	17
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range	17
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions	17
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease	17
Impact of genome build on RNA-seq interpretation and diagnostics	17
When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions	17
High-throughput identification of regulatory elements and functional assays to uncover susceptibility genes for nasopharyngeal carcinoma	17
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing	17
Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts	17
Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank	17
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies	17
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders	17
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia	17