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Published in science

Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

published in nature

An atlas of active enhancers across human cell types and tissues

published in nature

A promoter-level mammalian expression atlas

published in nature

An integrated encyclopedia of DNA elements in the human genome

published in nature

Landscape of transcription in human cells

September 2023

The psychosocial impact of childhood dementia on children and their parents: a systematic review

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.

Published research Early Childhood Development Computational Biology Child and adolescent health
August 2023

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.

Published research Computational Biology Child disability