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

Por Rice, Alan M., McLysaght, Aoife
Publicado no Nat Commun (2017)

Novel SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure

Por Kaur, Jasmeet, Rice, Alan M, O’Connor, Elizabeth, Piya, Anil, Buckler, Bradley, Bose, Himangshu S
Publicado no Endocrinol Diabetes Metab Case Rep (2016)

A chromatin-independent role of Polycomb-like 1 to stabilize p53 and promote cellular quiescence

Por Brien, Gerard L., Healy, Evan, Jerman, Emilia, Conway, Eric, Fadda, Elisa, O'Donovan, Darragh, Krivtsov, Andrei V., Rice, Alan M., Kearney, Conor J., Flaus, Andrew, McDade, Simon S., Martin, Seamus J., McLysaght, Aoife, O'Connell, David J., Armstrong, Scott A., Bracken, Adrian P.
Publicado no Genes Dev (2015)