American Journal of Human Genetics

Article	Citations
This month in The Journal	365
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	241
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder	230
EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies	206
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes	201
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models	184
This Month in The Journal	173
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase	167
Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis	145
Exome variant discrepancies due to reference-genome differences	137
The construction of cross-population polygenic risk scores using transfer learning	133
2022 ASHG awards and addresses	132
2022 Curt Stern Award introduction: Heidi Rehm	106
The genomic signatures of natural selection in admixed human populations	94
This month in The Journal	92
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing	91
De novo variants in DENND5B cause a neurodevelopmental disorder	89
Describing human populations: An evolving picture in human genetics research	84
This month in The Journal	84
The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells	82
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction	82
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly	79
75 years of The American Journal of Human Genetics	76
Genomic medicine year in review: 2021	74
Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility	73

“Choice of law” in precision medicine research	71
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia	70
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics	69
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8	68
This month in The Journal	65
Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls	65
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation	64
An allelic-series rare-variant association test for candidate-gene discovery	64
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis	62
This month in The Journal	61
Response to Li and Hopper	60
2021 ASHG awards and addresses	58
2021 McKusick Leadership Award: Learning from communities	56
Response to Luzzatto et al.	54
Stephen T. Warren, Ph.D. (1953–2021): A remembrance	53
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	52
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder	52
Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits	51
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	51
Association between telomere length and Plasmodium falciparum malaria endemicity in sub-Saharan Africans	49
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	49
Imputation accuracy across global human populations	48
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders	48
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	48
Understanding changes in genetic literacy over time and in genetic research participants	47
Consequences of chromosome gain: A new view on trisomy syndromes	46
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia	46
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature	45
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis	45
FastRNA: An efficient solution for PCA of single-cell RNA-sequencing data based on a batch-accounting count model	44
A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population	44
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	43
This month in The Journal	43
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease	43
This month in The Journal	41
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder	41
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1	41
Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease	41
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank	41
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data	41
Population structure and migration in the Eastern Highlands of Papua New Guinea, a region impacted by the kuru epidemic	41
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder	40
This Month in The Journal	40
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution	39
Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits	39
Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population	39
The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK	38
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care	38
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity	38
Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG’s continuing journey to advance human genetics	38

Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas	36
Bayesian model comparison for rare-variant association studies	36
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction	36
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring	36
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure	36
Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways	35
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants	35
An epigenome-wide view of osteoarthritis in primary tissues	34
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder	33
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome	33
A Bayesian approach to Mendelian randomization using summary statistics in the univariable and multivariable settings with correlated pleiotropy	33
Fast and accurate Bayesian polygenic risk modeling with variational inference	33
CAG repeat mosaicism is gene specific in spinocerebellar ataxias	33
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes	32
Establishing risk of vision loss in Leber hereditary optic neuropathy	32
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice	32
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation	32
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants	31
CRISPR activation to characterize splice-altering variants in easily accessible cells	31
Anatomy of DNA methylation signatures: Emerging insights and applications	31
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants	31
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2	31
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care	31
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer	31
Genetic modifiers of body mass index in individuals with cystic fibrosis	30
A novel multivariable Mendelian randomization framework to disentangle highly correlated exposures with application to metabolomics	30
Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability	29
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	29
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	29
A scalable and robust variance components method reveals insights into the architecture of gene-environment interactions underlying complex traits	28
Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa	28
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	28
Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization	28
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis	27
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria	27
When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants	27
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia	27
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project	27
Response to Bodmer and Charlesworth: Mendelian genetics and eugenics	27
Systematic comparison of family history and polygenic risk across 24 common diseases	27
TEMR: Trans-ethnic mendelian randomization method using large-scale GWAS summary datasets	27
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder	26
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome	26
Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes	26
Leveraging the local genetic structure for trans-ancestry association mapping	26
Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?	26
Enhancer variants on chromosome 2p14 regulating SPRED2 and ACTR2 act as a signal amplifier to protect against rheumatoid arthritis	26
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	25
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder	25
Optical genome mapping enables constitutional chromosomal aberration detection	25
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss	25
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	25
Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches	25
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk	25
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy	24
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	24
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility	24
Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes	24
Genetic determinants of IgG antibody response to COVID-19 vaccination	24
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans	23
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program	23
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features	23
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability	23
A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer	23
Rare and de novo coding variants in chromodomain genes in Chiari I malformation	23
Improved pathogenicity prediction for rare human missense variants	23
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals	23
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial	22
The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk	22
The PRIMED Consortium: Reducing disparities in polygenic risk assessment	22
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	22
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	21
High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility	21
Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease	21
2020 William Allan Award introduction: Mary-Claire King	21
This month in The Journal	21
Cross-ancestry analysis of brain QTLs enhances interpretation of schizophrenia genome-wide association studies	21
Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease	21
Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism	21
2022 Victor A. McKusick Leadership Award	21

ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya	21
Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo	21
2021 Allan Award	21
This month in The Journal	21
A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data	21
The impact of coding germline variants on contralateral breast cancer risk and survival	20
2022 ASHG presidential address—One human race: Billions of genomes	20
Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction	20
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes	20
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model	20
Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements	19
This month in The Journal	19
Ethical considerations when co-analyzing ancient DNA and data from private genetic databases	19
Facing Our History—Building an Equitable Future	19
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies	19
This month in The Journal	19
Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation	19
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	19
Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancer	18
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay	18
omicSynth: An open multi-omic community resource for identifying druggable targets across neurodegenerative diseases	18
Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer	18
Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B	18
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway	18
Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease	18
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism	18
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss	18
LDAK-GBAT: Fast and powerful gene-based association testing using summary statistics	17
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans	17
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	17
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration	17
How science will help us move forward in 2021	17
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability	17
Chromosome X-wide common variant association study in autism spectrum disorder	17
Recognizing those who deal with rare disease every day	17
Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation	17
DNA methylation-based predictors of metabolic traits in Scottish and Singaporean cohorts	17
2020 Curt Stern Award address: a more perfect clinical genome—how consanguineous populations contribute to the medical annotation of the human genome	17
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage	17
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA	16
H. Eldon Sutton, PhD (1927–2023): A long and full life	16
Implications of family history and polygenic risk scores for causation	16
Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease	16
HiFi long-read genomes for difficult-to-detect, clinically relevant variants	16
Toward building a comprehensive human pan-genome: The SEN-GENOME project	16
This month in The Journal	16
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy	16
This Month in The Journal	16
The 2023 Distinguished Speakers Symposium: Closing Remarks	16
This month in The Journal	16
A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus	16
The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics	16
KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies	16
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita	16