Dosage sensitivity is a major determinant of human copy number variant pathogenicity

by Alan M. Rice, Aoife McLysaght
Published 2017-02-01

Dosage-sensitive genes in evolution and disease

by Alan M. Rice, Aoife McLysaght
Published 2017-09-01

De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development

by Anil Piya, Jasmeet Kaur, Alan M Rice, Himangshu S Bose
Published 2017-03-01

Deficient pregnenolone synthesis associated with congenital adrenal hyperplasia and organelle dysfunction

by Himangshu S Bose, Alan M Rice, Brendan Marshall, Fadi Gebrail, David Kupshik, Elizabeth W Perry
Published 2019-05-01