A. Wernstedt

发表

Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL

M. Baudis, S. Girlando, L. Messiaen, 2012, Genes, chromosomes & cancer.

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

K. Wimmer, N. Friedrichs, J. Zschocke, 2022, Biomolecules.

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency

H. Peeters, T. Giner, R. Sciot, 2013, Genes, chromosomes & cancer.

SLC26A1 is a major determinant of sulfate homeostasis in humans

A. Köttgen, F. Luft, J. M. van de Kamp, 2023, The Journal of clinical investigation.

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

C. Fauth, H. Fiegl, K. Wimmer, 2015, European Journal of Human Genetics.

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

T. Callens, L. Messiaen, K. Wimmer, 2011, PLoS genetics.

Functional PMS2 hybrid alleles containing a pseudogene‐specific missense variant trace back to a single ancient intrachromosomal recombination event

H. Kehrer-Sawatzki, L. Messiaen, K. Wimmer, 2010, Human mutation.

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

S. Robertson, K. Wimmer, M. Nyström, 2012, European Journal of Human Genetics.

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

K. Wimmer, C. Kratz, J. Zschocke, 2016, European Journal of Human Genetics.

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

Yunjia Chen, T. Callens, L. Messiaen, 2020, Human mutation.

PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.

K. Wimmer, A. Wernstedt, 2014, Methods in molecular biology.

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency

J. Jiricny, K. Wimmer, G. Amann, 2012, DNA repair.

Gyrate Atrophy in 2 Siblings – Ophthalmological Findings and A New Mutation

G. Blatsios, D. Karall, A. Entenmann, 2015, Klinische Pädiatrie.