Hildegard Kehrer-Sawatzki

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 14

Top Topics

Psychometric Properties

Top Venues

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Gergely Büki, Anna Bekő, Csaba Bödör, Peter Urban, Krisztina Németh, Kinga Hadzsiev, György Fekete, Hildegard Kehrer-Sawatzki, Judit Bene
Identification of an NF1 Microdeletion with Optical Genome Mapping. International journal of molecular sciences 24 (17) (2023)
Hildegard Kehrer-Sawatzki, David N Cooper
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Human genetics 141 (2) (2021)
Hildegard Kehrer-Sawatzki, Ute Wahlländer, David N Cooper, Victor-Felix Mautner
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions. Genes 12 (10) (2021)
Hildegard Kehrer-Sawatzki, David N Cooper
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. Human genetics 140 (12) (2021)
Lan Kluwe, Reinhard E Friedrich, Said C Farschtschi, Christian Hagel, Hildegard Kehrer-Sawatzki, Victor-Felix Mautner
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism. Human mutation 41 (7) (2020)
Hildegard Kehrer-Sawatzki, Lan Kluwe, Johannes Salamon, Lennart Well, Said Farschtschi, Thorsten Rosenbaum, Victor-Felix Mautner
Clinical characterization of children and adolescents with NF1 microdeletions. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 36 (10) (2020)
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor-Felix Mautner
Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1. Molecular genetics & genomic medicine (2018)
Lisa Neuhäusler, Anna Summerer, David N Cooper, Victor-F Mautner, Hildegard Kehrer-Sawatzki
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions. Human genetics 137 (5) (2018)
Anna Summerer, Victor-Felix Mautner, Meena Upadhyaya, Kathleen B M Claes, Josef Högel, David N Cooper, Ludwine Messiaen, Hildegard Kehrer-Sawatzki
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences. Human genetics 137 (6-7) (2018)
Anna Summerer, Eleonora Schäfer, Victor-Felix Mautner, Ludwine Messiaen, David N Cooper, Hildegard Kehrer-Sawatzki
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions. Human genetics 138 (1) (2018)
Hildegard Kehrer-Sawatzki, Lan Kluwe, Reinhard E Friedrich, Anna Summerer, Eleonora Schäfer, Ute Wahlländer, Cordula Matthies, Isabel Gugel, Said Farschtschi, Christian Hagel, David N Cooper, Victor-Felix Mautner
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas. Human genetics 137 (6-7) (2018)
Morten Hillmer, Anna Summerer, Victor-Felix Mautner, Josef Högel, David N Cooper, Hildegard Kehrer-Sawatzki
Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification. Human mutation 38 (12) (2017)
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
Emerging genotype-phenotype relationships in patients with large NF1 deletions. Human genetics 136 (4) (2017)
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Human genetics 136 (2) (2016)