Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Mederer T et al.
Plos Genetics, 2020
33151932 (PubMed )
Supplement: pgen.1009106.s007.pdf
Select a paper to view details