The American Journal of Human Genetics - 2023

186 articles | Last updated: 2025-12-03 14:12:57
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T A T A T A T A
This month in The Journal
H. Eldon Sutton, PhD (1927–2023): A long and full life
Tree-based QTL mapping with expected local genetic relatedness matrices
Genomic medicine year in review: 2023
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families
Increasing diversity of functional genetics studies to advance biological discovery and human health
CHARR efficiently estimates contamination from DNA sequencing data
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Inferring disease architecture and predictive ability with LDpred2-auto
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care
Response to Luzzatto et al.
Potentially pathogenic and pathogenic G6PD variants
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 2030
Factorizing polygenic epistasis improves prediction and uncovers biological pathways in complex traits
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes
This month in The Journal
Power of inclusion: Enhancing polygenic prediction with admixed individuals
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics
Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics
Identification of a robust DNA methylation signature for Fanconi anemia
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA
The need for an intersectionality framework in precision medicine research
The ancestry and geographical origins of St Helena’s liberated Africans
Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy
Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction
This month in The Journal
Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
Literature-based predictions of Mendelian disease therapies
The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Demographic modeling of admixed Latin American populations from whole genomes
mtPGS: Leverage multiple correlated traits for accurate polygenic score construction
This month in The Journal
The ancestry and geographical origins of St Helena’s liberated Africans
Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background
Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals
The phenotype-genotype reference map: Improving biobank data science through replication
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Integrative splicing-quantitative-trait-locus analysis reveals risk loci for non-small-cell lung cancer
Genetic insights into the age-specific biological mechanisms governing human ovarian aging
This month in The Journal
Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Ethical considerations when co-analyzing ancient DNA and data from private genetic databases
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon
An allelic-series rare-variant association test for candidate-gene discovery
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis
Response to Li and Hopper
Approaches to studying the impact of 22q11.2 copy number variants
Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes
Response to Bassett et al.
This month in The Journal
Implications of family history and polygenic risk scores for causation
Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
High-throughput identification of regulatory elements and functional assays to uncover susceptibility genes for nasopharyngeal carcinoma
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
Studying the impact of translational genomic research: Lessons from eMERGE
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry European ancestry
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Progress in expanding newborn screening in the United States
Response to Grosse et al.
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?
This month in The Journal
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
Estimating clinical risk in gene regions from population sequencing cohort data
Impact of cross-ancestry genetic architecture on GWASs in admixed populations
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
A joint transcriptome-wide association study across multiple tissues identifies candidate breast cancer susceptibility genes
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics
The functional impact of 1,570 individual amino acid substitutions in human OTC
Kurt Hirschhorn (1926–2022)
This month in The Journal
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of “Bushman” in the Maloti-Drakensberg, southern Africa
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Fast and accurate Bayesian polygenic risk modeling with variational inference
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets
This month in The Journal
Scalable mixed model methods for set-based association studies on large-scale categorical data analysis and its application to exome-sequencing data in UK Biobank
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
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
Deletion mapping of regulatory elements for GATA3 in T cells reveals a distal enhancer involved in allergic diseases
Trio RNA sequencing in a cohort of medically complex children
Identifying parental and cell-division origins of aneuploidy in the human blastocyst
Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
Robust multivariable Mendelian randomization based on constrained maximum likelihood
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
Enhancer variants on chromosome 2p14 regulating SPRED2 and ACTR2 act as a signal amplifier to protect against rheumatoid arthritis
Variation in ERAP2 has opposing effects on severe respiratory infection and autoimmune disease
2022 Curt Stern Award introduction: Heidi Rehm
2022 ASHG awards and addresses
2022 Victor A. McKusick Leadership Award
This month in The Journal
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing
Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG’s continuing journey to advance human genetics
2022 ASHG presidential address—One human race: Billions of genomes
2022 William Allan Award
Facing Our History—Building an Equitable Future
On the report of the ASHG “Facing Our History—Building an Equitable Future” initiative
Dynamic chromatin accessibility tuning by the long noncoding RNA ELDR accelerates chondrocyte senescence and osteoarthritis
2022 Victor A. McKusick Leadership Award introduction: David Nelson
2022 William Allan Award introduction: Peter Donnelly
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
The impact of coding germline variants on contralateral breast cancer risk and survival
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding
Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas
Challenges of accurately estimating sex-biased admixture from X chromosomal and autosomal ancestry proportions
Using genetic association data to guide drug discovery and development: Review of methods and applications
Response to Pfenning and Lachance
This month in The Journal
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
The impact of 22q11.2 copy-number variants on human traits in the general population
Significance tests for R2 of out-of-sample prediction using polygenic scores
Loci for insulin processing and secretion provide insight into type 2 diabetes risk
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
Epigenome-wide meta-analysis of BMI in nine cohorts: Examining the utility of epigenetically predicted BMI
Pathogen exposure misclassification can bias association signals in GWAS of infectious diseases when using population-based common control subjects
15 years of GWAS discovery: Realizing the promise
Fast, accurate local ancestry inference with FLARE
Unsupervised discovery of ancestry-informative markers and genetic admixture proportions in biobank-scale datasets
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans African Americans
Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits
Genotype first: Clinical genomics research through a reverse phenotyping approach
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data
This month in The Journal
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Low disease risk and penetrance in Leber hereditary optic neuropathy
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
LDAK-GBAT: Fast and powerful gene-based association testing using summary statistics
SDPRX: A statistical method for cross-population prediction of complex traits
Statistical phasing of 150,119 sequenced genomes in the UK Biobank