American Journal of Human Genetics

Article	Citations
Fast two-stage phasing of large-scale sequence data	251
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?	168
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care	139
Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort	135
The Genetic Landscape and Epidemiology of Phenylketonuria	135
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk	123
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria	120
Genotyping Array Design and Data Quality Control in the Million Veteran Program	117
Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability	113
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial	111
Optical genome mapping enables constitutional chromosomal aberration detection	109
Insufficient Evidence for “Autism-Specific” Genes	107
Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects	106
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility	106
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm	106
Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches	103
Targeted long-read sequencing identifies missing disease-causing variation	102
Genetic Consequences of the Transatlantic Slave Trade in the Americas	96
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups	90
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy	88
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping	87
High-Throughput Reclassification of SCN5A Variants	86
A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data	85
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases	82
Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data Sets	78

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa	76
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?	76
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest	76
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility	74
15 years of GWAS discovery: Realizing the promise	74
A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits	72
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies	72
Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data	71
A dyadic approach to the delineation of diagnostic entities in clinical genomics	71
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice	69
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals	68
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility	66
Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility	65
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype	63
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants	62
Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations	62
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism	62
The omnigenic model and polygenic prediction of complex traits	61
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks	61
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos	61
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases	60
Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years	60
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk	60
Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals	60
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project	59
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes	57
Fostering Responsible Research on Ancient DNA	56
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families	56
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation	55
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality	55
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank	54
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm	53
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14	53
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance	52
Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics	52
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases	52
Genetic Architecture of Gene Expression in European and African Americans: An eQTL Mapping Study in GENOA	51
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice	50
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies	50
Genetic control of the human brain proteome	49
Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data	49
Improved pathogenicity prediction for rare human missense variants	49
A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos	48
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures	48
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females	48
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios	48
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans	48
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum	47
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases	47
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations	47

Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice	45
Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies	44
Natural Selection Shapes Codon Usage in the Human Genome	44
Systematic comparison of family history and polygenic risk across 24 common diseases	44
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population	44
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease	43
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects	43
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN	42
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation	42
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases	42
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes	41
The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature	41
Rapid, Phase-free Detection of Long Identity-by-Descent Segments Enables Effective Relationship Classification	41
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes	41
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms	40
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia	40
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome	39
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions	39
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study	39
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA	38
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits	38
Evolution of a Human-Specific Tandem Repeat Associated with ALS	38
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment	38
Multiplexed Functional Assessment of Genetic Variants in CARD11	38
Using genetic association data to guide drug discovery and development: Review of methods and applications	38
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population	38
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay	37
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation	37
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk	37
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	37
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup	37
Robust genetic nurture effects on education: A systematic review and meta-analysis based on 38,654 families across 8 cohorts	37
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution	37
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals	36
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population	36
Exome variant discrepancies due to reference-genome differences	36
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling	36
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2	35
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4	35
Anatomy of DNA methylation signatures: Emerging insights and applications	35
Leveraging phenotypic variability to identify genetic interactions in human phenotypes	35
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis	35
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects	35
An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships	35
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy	34
Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology	34
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome	33
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome	33
Shifting landscapes of human MTHFR missense-variant effects	33
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms	33
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration	33
Multi-trait transcriptome-wide association studies with probabilistic Mendelian randomization	33
Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy	32
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature	32
The individual and global impact of copy-number variants on complex human traits	32
Addressing underrepresentation in genomics research through community engagement	32
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects	32
Familial long-read sequencing increases yield of de novo mutations	32
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model	31
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia	31
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts	31
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization	31
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy	31
Inferring Gene-by-Environment Interactions with a Bayesian Whole-Genome Regression Model	31
eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene	30
Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression	30
H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility	30
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity	30
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia	30
Interpretable prioritization of splice variants in diagnostic next-generation sequencing	30
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics	30
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype	30
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity	30
Negative selection on complex traits limits phenotype prediction accuracy between populations	29
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance	29
Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation	29
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction	29
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	29
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures	29
A catalog of GWAS fine-mapping efforts in autoimmune disease	28

A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years	28
Management of Secondary Genomic Findings	28
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits	28
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy	28
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains	27
Failure to recombine is a common feature of human oogenesis	27
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations	27
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome	27
Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades	26
Establishing risk of vision loss in Leber hereditary optic neuropathy	26
Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity	26
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling	26
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss	26
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities	26
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study	26
Regional Variation of Splicing QTLs in Human Brain	25
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants	25
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation	25
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling	25
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations	25
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program	25
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes	24
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores	24
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data	24
Midbrain organoids mimic early embryonic neurodevelopment and recapitulate LRRK2-p.Gly2019Ser-associated gene expression	24
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis	24
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data	24
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity	24
Population-Specific Recombination Maps from Segments of Identity by Descent	23
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies	23
Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort	23
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency	23
A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes	23
Genetic effects on liver chromatin accessibility identify disease regulatory variants	23
Lessons Learned from Bugs in Models of Human History	23
The genomics workforce must become more diverse: a strategic imperative	23
Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries	23
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy	23
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration	23
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype	23
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network	23
Association of structural variation with cardiometabolic traits in Finns	23
On the reproductive capabilities of aneuploid human preimplantation embryos	23
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene	22
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations	22
PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics	22
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome	22
The genetic architecture of pediatric cardiomyopathy	22
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes	22
Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning	22
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila	22