Publications by authors named "Anna Summerer"

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Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
Anna Summerer, Eleonora Schäfer, Victor-Felix Mautner, Ludwine Messiaen, David N Cooper

Hum Genet· January 2019

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Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.
Anna Summerer, Victor-Felix Mautner, Meena Upadhyaya, Kathleen B M Claes, Josef Högel

Hum Genet· July 2018

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Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Hildegard Kehrer-Sawatzki, Lan Kluwe, Reinhard E Friedrich, Anna Summerer, Eleonora Schäfer

Hum Genet· July 2018

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Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.
Lisa Neuhäusler, Anna Summerer, David N Cooper, Victor-F Mautner, Hildegard Kehrer-Sawatzki

Hum Genet· May 2018

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Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel

Mol Genet Genomic Med· May 2018

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Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification.
Morten Hillmer, Anna Summerer, Victor-Felix Mautner, Josef Högel, David N Cooper

Hum Mutat· December 2017

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Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.
Morten Hillmer, David Wagner, Anna Summerer, Michaela Daiber, Victor-Felix Mautner

Hum Mol Genet· February 2016

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Nuclear import factor transportin and arginine methyltransferase 1 modify FUS neurotoxicity in Drosophila.
Sandra Jäckel, Anna K Summerer, Catherine M Thömmes, Xia Pan, Aaron Voigt

Neurobiol Dis· February 2015

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