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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Genomic analyses implicate noncoding de novo variants in congenital heart disease.
A compendium of promoter-centered long-range chromatin interactions in the human genome.
Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes.
Genomic subtyping and therapeutic targeting of acute erythroleukemia.
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease.
Corrigendum: The genomic landscape of juvenile myelomonocytic leukemia.
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis.