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The American Journal of Human Genetics
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
- A phenotypic paradigm for cerebral palsy genetics
- All of Us Research Program year in review: 2025
- This month in The Journal
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
- A phenotypic paradigm for cerebral palsy genetics
- All of Us Research Program year in review: 2025
- This month in The Journal
- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
- RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
- Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
- RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
- Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
- Shared genetic basis and structure of syndromic and normal facial variation
- Shared genetic basis and structure of syndromic and normal facial variation
- Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
- Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
- Shared inheritance reveals landscape of somatic and germline cancer risk in TP53
- Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study
- The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies
- Shared inheritance reveals landscape of somatic and germline cancer risk in TP53
- Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study
- The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies
- Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa
- Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa
- Reply to Zaslavsky et al.
- Response to Quinodoz and Leroy
- This month in The Journal
- Systematic and proactive evaluation of AIRE missense variant effects
- Systematic and proactive evaluation of AIRE missense variant effects
- Reply to Zaslavsky et al.
- Response to Quinodoz and Leroy
- This month in The Journal
- Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features
- Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features
- Cell villages and Dirichlet modeling map human cell fitness genetics
- Cell villages and Dirichlet modeling map human cell fitness genetics
- Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs
- Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs
- Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia
- Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility
- Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia
- Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility
- Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
- Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
- Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts
- Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
- Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts
- Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
- Landscape of parental postzygotic mutations across >11,000 rare disease trios
- Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification
- Landscape of parental postzygotic mutations across >11,000 rare disease trios
- Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification
- Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder
- Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder
- Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
- Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
- Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
- Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
- A transparent and generalizable deep-learning framework for genomic ancestry prediction
- Bi-allelic missense variants in human GPN2 result in Perrault syndrome
- Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias
- This month in The Journal
- Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome
- A transparent and generalizable deep-learning framework for genomic ancestry prediction
- Bi-allelic missense variants in human GPN2 result in Perrault syndrome
- Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias
- This month in The Journal
- Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome
- Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns
- Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans
- Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns
- Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans
- Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
- Deciding “what” to screen for and “when”: The importance of natural history information
- Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
- Deciding “what” to screen for and “when”: The importance of natural history information
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease
- Integrating social determinants of health and genetic risk in disease risk models
- Integrating social determinants of health and genetic risk in disease risk models
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease
- De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
- De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
- Complete chromosome 21 centromere sequencing of families with Down syndrome
- Complete chromosome 21 centromere sequencing of families with Down syndrome
- Genome-wide analysis implicates inner ear development in Ménière disease
- Genome-wide analysis implicates inner ear development in Ménière disease
- Trust, mistrust, and the promise of AI in genomics for African populations
- Trust, mistrust, and the promise of AI in genomics for African populations
- Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
- Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
- Identifying condition-related cell-cell communication events using supervised tensor analysis
- HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
- Patricia A. Jacobs (1934–2026)
- This month in The Journal
- HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
- Patricia A. Jacobs (1934–2026)
