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The American Journal of Human Genetics
- This month in The Journal
- Scaling haplospecific antisense oligonucleotides from N-of-1 to broad use in genetic disease populations by diplotyping
- Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing
- De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons
- Loss of the human BRIP1 C terminus does not cause Fanconi anemia
- Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance
- A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism
- Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I
- RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
- MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort
- This month in The Journal
- MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort
- This month in The Journal
- Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders
- Effect heterogeneity reveals complex pleiotropic effects of rare coding variants
- Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy
- Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
- Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network
- Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network
- Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists
- A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies
- International experiences of genomic newborn screening: Lessons from over 10,800 newborns
- A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies
- International experiences of genomic newborn screening: Lessons from over 10,800 newborns
- Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults
- A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity
- CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes
- Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults
- A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity
- CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes
- Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation
- Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation
- Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders
- Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features
- Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features
- Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders
- Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations
- Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness
- Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations
- Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness
- 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
- Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk
- Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk
- 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
