American Journal of Human Genetics

Article	Citations
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	445
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	413
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	399
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	282
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	225
“Choice of law” in precision medicine research	145
This month in The Journal	137
2022 Curt Stern Award introduction: Heidi Rehm	136
This month in The Journal	130
Genetic determinants of IgG antibody response to COVID-19 vaccination	129
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	107
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	88
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	84
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	83
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	83
Fast and accurate Bayesian polygenic risk modeling with variational inference	82
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	81
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	77
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	76
The genomic signatures of natural selection in admixed human populations	74
Genetic control of non-coding RNAs in the human brain and their implications for complex traits	74
This month in The Journal	71
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	69
This Month in The Journal	69
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	67

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	63
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	63
This month in The Journal	62
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	61
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	61
2022 ASHG presidential address—One human race: Billions of genomes	61
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	60
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	60
Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding	57
Accounting for age of onset and family history improves power in genome-wide association studies	56
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	55
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	55
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	55
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	53
2021 ASHG presidential address—Imagination and daring: Past, present, and future	52
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	52
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	52
2024 ASHG Scientific Achievement Award	51
This month in The Journal	51
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	51
A new annual feature of AJHG: All of Us Research Program year in review	49
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3	49
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 2030	49
The ancestry and geographical origins of St Helena’s liberated Africans	48
Literature-based predictions of Mendelian disease therapies	46
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing	46
Genetics of cell-type-specific post-transcriptional gene regulation during human neurogenesis	44
Familial long-read sequencing increases yield of de novo mutations	43
Addressing underrepresentation in genomics research through community engagement	43
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts	43
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4	42
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits	42
Using the ancestral recombination graph to study the history of rare variants in founder populations	42
The association of cigarette smoking with DNA methylation and gene expression in human tissue samples	42
Structural biology in variant interpretation: Perspectives and practices from two studies	41
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability	41
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics	40
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity	40
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants	39
Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion	39
This month in The Journal	38
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa	38
This month in The Journal	38
Extremely early genomic events and temporal order of esophageal squamous cell carcinogenesis: Longitudinal self-comparison of progressors and non-progressors	38
2023 ASHG presidential address—Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future	38
Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention	37
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy	37
Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits	37
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes	37
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity	36

A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens	36
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models	35
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4	35
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites	35
Exploring the omnigenic architecture of selected complex traits	35
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications	35
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants	34
Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations	34
This Month in The Journal	34
Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications	34
2022 William Allan Award introduction: Peter Donnelly	33
Liver single-nucleus multiome profiling reveals cell-type mechanisms for cardiometabolic traits	33
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies	32
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects	32
The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function	32
COMPADRE: Combined pedigree-aware distant relatedness estimation for improved pedigree reconstruction	32
A powerful approach to identify replicable variants in genome-wide association studies	31
Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes	31
Demographic history and genetic variation of the Armenian population	31
Inferring population structure in biobank-scale genomic data	31
Significance tests for R2 of out-of-sample prediction using polygenic scores	31
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia	31
Pathogen exposure misclassification can bias association signals in GWAS of infectious diseases when using population-based common control subjects	31
The ancestry and geographical origins of St Helena’s liberated Africans	31
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation	31
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration	30
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals	30
This month in The Journal	30
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome	30
Landscapes of missense variant impact for human superoxide dismutase 1	30
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation	29
The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics	29
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome	29
Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability	29
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population	29
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling	28
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms	28
Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting	28
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders	28
Haplotype analysis reveals pleiotropic disease associations in the HLA region	28
Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench	28
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders	28
Biobank-scale inference of multi-individual identity by descent and gene conversion	27
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations	27
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?	27
Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds	27
A scalable framework for identifying allelic series from summary statistics	27
Trio RNA sequencing in a cohort of medically complex children	27
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection	27
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder	27
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2	26
High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility	26
Consequences of chromosome gain: A new view on trisomy syndromes	26
Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic	26
A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease	26
This month in The Journal	26
Misattributed paternity discovery: A critique of medical organizations’ recommendations	26
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank	26
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence	26
Response to Li and Hopper	26
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes	26
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring	25
A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer	25
75 years of The American Journal of Human Genetics	25
CAG repeat mosaicism is gene specific in spinocerebellar ataxias	25
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study	25
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy	24
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans	24
The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics	24
Implications of family history and polygenic risk scores for causation	24
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1	24
An allelic-series rare-variant association test for candidate-gene discovery	24
This month in The Journal	24
Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating	24
Understanding changes in genetic literacy over time and in genetic research participants	24
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity	24
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans	24
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk	24
Opportunities and challenges of local ancestry in genetic association analyses	23
This month in The Journal	23

2022 Victor A. McKusick Leadership Award	23
Overcoming constraints on the detection of recessive selection in human genes from population frequency data	22
Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries	22
Toward clinical exomes in diagnostics and management of male infertility	22
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome	22
This month in The Journal	22
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing	22
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14	22
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes	22
STIGMA: Single-cell tissue-specific gene prioritization using machine learning	22
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk	22
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans	22
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway	22
Will variants of uncertain significance still exist in 2030?	22
This month in The Journal	22
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature	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	21
Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets	21
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes	21
Response to Bassett et al.	21
Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking	21
International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review	21
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy	21
Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans	20
Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies	20
Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation	20
Distinct explanations underlie gene-environment interactions in the UK Biobank	20
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder	20
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder	20
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes	20
Fast, accurate local ancestry inference with FLARE	20
Estimating gene conversion rates from population data using multi-individual identity by descent	20
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia	20
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study	20
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome	20
Exploring the noncoding genome with chromosomal structural rearrangements	19
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design	19
Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants	19
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets	19
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data	19
CHARR efficiently estimates contamination from DNA sequencing data	18
When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions	18
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement	18
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies	18
Impact of genome build on RNA-seq interpretation and diagnostics	18
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case	18
Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations	18
Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression	18
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia	18
Addressing the challenges of polygenic scores in human genetic research	18
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature	18
Closing the loop: Editors' feedback on the ASHG readership survey	18
Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts	18
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range	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
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions	17
High-throughput identification of regulatory elements and functional assays to uncover susceptibility genes for nasopharyngeal carcinoma	17
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease	17
GWAS of longitudinal trajectories at biobank scale	17
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup	17
Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank	17
The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function	17
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders	17
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing	17
Natural Selection Shapes Codon Usage in the Human Genome	16
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction	16
Role of X chromosome and dosage-compensation mechanisms in complex trait genetics	16
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain	16
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities	16
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis	16
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism	16
Many roads to a gene-environment interaction	15
Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes	15
Shared components of heritability across genetically correlated traits	15
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder	15
MagicalRsq: Machine-learning-based genotype imputation quality calibration	15
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank	15
Response to Mörseburg et al.	15
CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data	15
Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population	15
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases	15
The individual and global impact of copy-number variants on complex human traits	15
Gene and phenome-based analysis of the shared genetic architecture of eye diseases	14
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders	14
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum	14
Integrative splicing-quantitative-trait-locus analysis reveals risk loci for non-small-cell lung cancer	14
Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells	14
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes	14
Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila	14
Low population penetrance of variants associated with inherited retinal degenerations	14
RAREsim: A simulation method for very rare genetic variants	14
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability	14
Estimation of demography and mutation rates from one million haploid genomes	14
METRO: Multi-ancestry transcriptome-wide association studies for powerful gene-trait association detection	14