Anna K. Summerer

Albert Einstein Allee 11
Ulm, BW 89081, Germany

Last Updated: 09/26/2026

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Found 8 publications

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

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

Journal: Human genetics

Published: September 21, 2018

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

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

Journal: Human genetics

Published: June 07, 2018

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

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

Journal: Human genetics

Published: May 16, 2018

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

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

Journal: Human genetics

Published: March 16, 2018

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.

Journal: Molecular genetics & genomic medicine

Published: February 27, 2018

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

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

Journal: Human mutation

Published: June 26, 2017

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

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

Journal: Human molecular genetics

Published: November 12, 2015

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

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

Journal: Neurobiology of disease

Published: June 17, 2014

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Last Updated: 09/26/2026