American Journal of Human Genetics

Article	Citations
This month in The Journal	452
A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data	291
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes	277
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models	275
This Month in The Journal	273
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder	236
A novel multivariable Mendelian randomization framework to disentangle highly correlated exposures with application to metabolomics	228
Genetic association studies using disease liabilities from deep neural networks	178
2024 ASHG Leadership Award	170
Misattributed paternity discovery: A critique of medical organizations’ recommendations	160
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study	155
2022 ASHG awards and addresses	114
2022 Curt Stern Award introduction: Heidi Rehm	106
Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo	105
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	101
This month in The Journal	100
Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease	99
Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas	99
This Month in The Journal	97
This month in The Journal	97
Describing human populations: An evolving picture in human genetics research	91
This month in The Journal	91
The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells	84
Genomic medicine year in review: 2021	83
Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility	81

The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care	77
75 years of The American Journal of Human Genetics	77
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders	75
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	71
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring	66
High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility	65
This month in The Journal	64
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia	64
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation	63
This month in The Journal	61
An allelic-series rare-variant association test for candidate-gene discovery	61
Response to Li and Hopper	59
Response to Luzzatto et al.	57
2021 McKusick Leadership Award: Learning from communities	57
2021 ASHG awards and addresses	57
Stephen T. Warren, Ph.D. (1953–2021): A remembrance	57
Imputation accuracy across global human populations	55
Consequences of chromosome gain: A new view on trisomy syndromes	55
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	55
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia	55
FastRNA: An efficient solution for PCA of single-cell RNA-sequencing data based on a batch-accounting count model	54
A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population	53
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations	50
Artificial variables help to avoid over-clustering in single-cell RNA sequencing	50
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis	50
Enhancer variants on chromosome 2p14 regulating SPRED2 and ACTR2 act as a signal amplifier to protect against rheumatoid arthritis	49
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	49
This month in The Journal	49
This month in The Journal	48
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease	48
Genetic modifiers of body mass index in individuals with cystic fibrosis	48
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature	47
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome	47
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder	46
Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG’s continuing journey to advance human genetics	46
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals	46
Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits	46
Bayesian model comparison for rare-variant association studies	45
Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways	45
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure	45
The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK	45
Association between telomere length and Plasmodium falciparum malaria endemicity in sub-Saharan Africans	45
A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer	44
Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic	44
An epigenome-wide view of osteoarthritis in primary tissues	43
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation	43
Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability	43
Fast and accurate Bayesian polygenic risk modeling with variational inference	43
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	43
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	42

De novo variants in DENND5B cause a neurodevelopmental disorder	42
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	42
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	42
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	42
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing	41
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data	40
Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls	39
Cross-ancestry analysis of brain QTLs enhances interpretation of schizophrenia genome-wide association studies	39
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants	38
“Choice of law” in precision medicine research	37
Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits	37
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia	37
CRISPR activation to characterize splice-altering variants in easily accessible cells	36
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder	36
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program	36
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	35
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer	35
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy	35
EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies	35
A Bayesian approach to Mendelian randomization using summary statistics in the univariable and multivariable settings with correlated pleiotropy	34
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder	34
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics	34
Establishing risk of vision loss in Leber hereditary optic neuropathy	33
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice	33
TEMR: Trans-ethnic mendelian randomization method using large-scale GWAS summary datasets	32
When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants	32
Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa	32
Response to Bodmer and Charlesworth: Mendelian genetics and eugenics	32
Genetic determinants of IgG antibody response to COVID-19 vaccination	32
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants	31
Leveraging the local genetic structure for trans-ancestry association mapping	31
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder	31
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans	31
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder	31
The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk	30
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	30
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features	30
The PRIMED Consortium: Reducing disparities in polygenic risk assessment	29
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants	29
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8	29
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction	29
Improved pathogenicity prediction for rare human missense variants	29
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial	29
Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes	28
Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization	28
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity	28
Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?	27
CAG repeat mosaicism is gene specific in spinocerebellar ataxias	27
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis	27
A scalable and robust variance components method reveals insights into the architecture of gene-environment interactions underlying complex traits	27
Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease	27
Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank	27
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder	27
Exome variant discrepancies due to reference-genome differences	26
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1	26
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care	26
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability	26
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	26
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project	26
Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis	26
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss	25
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase	25
Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes	25
Understanding changes in genetic literacy over time and in genetic research participants	25
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk	25
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank	25
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome	24
Optical genome mapping enables constitutional chromosomal aberration detection	24
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction	24
Anatomy of DNA methylation signatures: Emerging insights and applications	24
The genomic signatures of natural selection in admixed human populations	24
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly	24
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution	24
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2	24
Systematic comparison of family history and polygenic risk across 24 common diseases	24
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes	23
Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population	23
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	23
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria	23
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis	22

This month in The Journal	22
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery	22
2022 Victor A. McKusick Leadership Award	22
Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches	22
2021 Allan Award	22
Liability-scale heritability estimation for biobank studies of low-prevalence disease	22
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	22
The construction of cross-population polygenic risk scores using transfer learning	22
This month in The Journal	22
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	22
Phenotypic spectrum of dual diagnoses in developmental disorders	22
This month in The Journal	21
Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements	21
reg-eQTL: Integrating transcription factor effects to unveil regulatory variants	21
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies	21
Facing Our History—Building an Equitable Future	21
2022 ASHG presidential address—One human race: Billions of genomes	21
This month in The Journal	21
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	21
This month in The Journal	21
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns	21
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias	21
DNA methylation-based predictors of metabolic traits in Scottish and Singaporean cohorts	20
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy	20
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration	20
A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus	20
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway	20
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	20
This month in The Journal	20
KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies	19
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans	19
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism	19
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	19
Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease	19
A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank	19
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy	19
The impact of coding germline variants on contralateral breast cancer risk and survival	19
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric	19
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes	18
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus	18
Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating	18
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	18
omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases	18
Toward clinical exomes in diagnostics and management of male infertility	18
Profiling genetically driven alternative splicing across the Indonesian archipelago	18
Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation	18
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing	18
Dynamic chromatin accessibility tuning by the long noncoding RNA ELDR accelerates chondrocyte senescence and osteoarthritis	18
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B	18
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals	18
Power of inclusion: Enhancing polygenic prediction with admixed individuals	17
Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation	17
This month in The Journal	17
H. Eldon Sutton, PhD (1927–2023): A long and full life	17
Ethical considerations when co-analyzing ancient DNA and data from private genetic databases	17
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research	17
Quantifying the contribution of dominance deviation effects to complex trait variation in biobank-scale data	17
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	17
Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction	17
The 2023 Distinguished Speakers Symposium: Closing Remarks	17
STIGMA: Single-cell tissue-specific gene prioritization using machine learning	17
Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals	17
Implications of family history and polygenic risk scores for causation	17
Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease	17
The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics	17