Anna Summerer

发表

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions

D. Cooper, H. Kehrer-Sawatzki, L. Messiaen, 2018, Human Genetics.

Nuclear import factor transportin and arginine methyltransferase 1 modify FUS neurotoxicity in Drosophila

Tobias M. Rasse, J. Schulz, X. Pan, 2015, Neurobiology of Disease.

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions

D. Cooper, H. Kehrer-Sawatzki, V. Mautner, 2018, Human Genetics.

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

D. Cooper, J. Högel, H. Kehrer-Sawatzki, 2018, Human Genetics.

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

D. Cooper, H. Kehrer-Sawatzki, K. Claes, 2018, Human Genetics.

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions

D. Cooper, H. Kehrer-Sawatzki, V. Mautner, 2018, Human Genetics.

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

D. Cooper, J. Högel, H. Kehrer-Sawatzki, 2017, Human mutation.

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

D. Cooper, H. Kehrer-Sawatzki, L. Messiaen, 2016, Human molecular genetics.

Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

U. Schüller, H. Kehrer-Sawatzki, M. Bendszus, 2018, Molecular genetics & genomic medicine.

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

D. Cooper, H. Kehrer-Sawatzki, L. Kluwe, 2018, Human Genetics.

Nuclear import factor transportin and arginine methyltransferase 1 modify FUS neurotoxicity in Drosophila

Tobias M. Rasse, J. Schulz, X. Pan, 2015, Neurobiology of Disease.

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

D. Cooper, H. Kehrer-Sawatzki, L. Kluwe, 2018, Human Genetics.