ORCA
Online Research @ CardiffÂ
Browse by All Cardiff Authors
![[up]](/style/images/multi_up.png)
Up a levelNumber of items: 4.
Kehrer-Sawatzki, Hildegard and Cooper, David N.  ORCID: https://orcid.org/0000-0002-8943-8484
2025.
SMARCB1 -related schwannomatosis and other SMARCB1 -associated phenotypes: clinical spectrum and molecular pathogenesis.
Familial Cancer
24
(3)
, 64.
10.1007/s10689-025-00486-4
|
|
|
Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Hamby, Stephen E., Stenson, Peter Daniel, Phillips, Andrew David, Kehrer-Sawatzki, Hildegard, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Chuzhanova, Nadia
2011.
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
Human Mutation
32
(6)
, pp. 620-632.
10.1002/humu.21483
|
|
|
Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Chen, Jian-Min, Ball, Edward Vincent, Howells, Katy, Mort, Matthew Edwin, Phillips, Andrew David, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard and Stenson, Peter Daniel
2010.
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Human Mutation
31
(6)
, pp. 631-655.
10.1002/humu.21260
|
|
|
|
Zhang, Guojie, Pei, Zhang, Krawczak, Michael, Ball, Edward Vincent, Mort, Matthew Edwin, Kehrer-Sawatzki, Hildegard and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484
2010.
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Human Mutation
31
(12)
, pp. 1286-1293.
10.1002/humu.21389
|
|
|