RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
- First Published November 15, 2021
Sequence-based correction of barcode bias in massively parallel reporter assays
- First Published July 20, 2021
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants
- First Published January 19, 2021
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease
- First Published November 16, 2011
Loss of exon identity is a common mechanism of human inherited disease
- First Published July 12, 2011
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts
- First Published December 30, 2008