Research
RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
- First Published November 15, 2021
Method
Sequence-based correction of barcode bias in massively parallel reporter assays
- First Published July 20, 2021
Letter
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
- First Published January 12, 2010
Resource
ProPhylER: A curated online resource for protein function and structure based on evolutionary constraint analyses
- First Published October 21, 2009
Methods
On the probability that a novel variant is a disease-causing mutation
- First Published June 17, 2005