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RNA ends connect genetic risk to brain disease
Establishing Polycomb regulatory landscapes in human early development
Publisher Correction: <i>Gb3</i> encodes a unique kinase fusion protein conferring greenbug resistance in wheat
Author Correction: Histone H3 proline 16 hydroxylation regulates mammalian gene expression
Clonal heterogeneity in human pancreatic ductal adenocarcinoma and its impact on tumor progression
Micronuclear ecDNA constrains tumor cell fitness and is associated with favorable patient survival
Live-cell transcriptomics
Calorie restriction reduces somatic mutation burden in mice

AJHG

The genetic architecture of pentanucleotide repeat variation and disease association
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
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance
Loss of the human BRIP1 C terminus does not cause Fanconi anemia
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
Effect heterogeneity reveals complex pleiotropic effects of rare coding variants
Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders
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
Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists