Anke M. Nissen

发表

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

P. Møller, E. Hovig, D. Vodák, 2019, Scientific Reports.

Identification of genetic variants for clinical management of familial colorectal tumors

P. Møller, E. Hovig, D. Vodák, 2018, BMC Medical Genetics.

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families

P. Møller, E. Hovig, D. Vodák, 2017, Familial Cancer.

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6

M. Kerscher, H. Schackert, A. Laner, 2017, Familial Cancer.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

E. Puffenberger, K. Strauss, K. Millen, 2016, American journal of human genetics.

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

P. Møller, E. Hovig, D. Vodák, 2018, Hereditary Cancer in Clinical Practice.

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

E. Schröck, A. Rump, B. Klink, 2016, PLoS genetics.

Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation

A. Laner, G. Keller, M. Morak, 2018, Journal of Medical Genetics.

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

A. Rump, I. Glass, W. Berger, 2016, Journal of Medical Genetics.

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

P. Møller, E. Hovig, D. Vodák, 2018, Hereditary cancer in clinical practice.

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6

M. Kerscher, H. Schackert, A. Laner, 2017, Familial Cancer.