Hildegard Kehrer‐Sawatzki - Publications, H-index & Citations

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Hildegard Kehrer‐Sawatzki

Ulm University

45H-index

175Paper Count

9.0KCitation Count

Published Papers 82

Publication Date

Schwannomatosis in children and adolescents: high relevance of early diagnostics

MONATSSCHRIFT KINDERHEILKUNDE

IF0.3

2025-11-01

OAAI

Kehrer-Sawatzki, Hildegard; Kluwe, Lan; Farschtschi, Said

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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections

HUMAN GENETICS

IF3.6

2022-11-07

OAAI

Fan, Cong; Chen, Ken; Wang, Yukai; Ball, Edward, V; Stenson, Peter D.; Mort, Matthew; Bacolla, Albino; Kehrer-Sawatzki, Hildegard; Tainer, John A.; Cooper, David N.; Zhao, Huiying

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

GENETICS IN MEDICINE

IF6.2

2022-09-01

OAAI

Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth

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The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

IF3.8

2022-03-04

OAAI

Kehrer-Sawatzki, Hildegard; Baezner, Ute; Kraemer, Johannes; Lewerenz, Jan; Pfeiffer, Christiane

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Distinct sequence features underlie microdeletions and gross deletions in the human genome

HUMAN MUTATION

IF3.7

2022-02-01

OAAI

Qi, Mengling; Stenson, Peter D.; Ball, Edward, V; Tainer, John A.; Bacolla, Albino; Kehrer-Sawatzki, Hildegard; Cooper, David N.; Zhao, Huiying

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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

IF3.6

2021-12-20

OAAI

Kehrer-Sawatzki, Hildegard; Cooper, David N.

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Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

HUMAN GENETICS

IF3.6

2021-09-18

OAAI

Kehrer-Sawatzki, Hildegard; Cooper, David N.

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

GENETICS IN MEDICINE

IF6.2

2021-08-01

389

OAAI

Legius, Eric; Messiaen, Ludwine; Wolkenstein, Pierre; Pancza, Patrice; Avery, Robert A.; Berman, Yemima; Blakeley, Jaishri; Babovic-Vuksanovic, Dusica; Cunha, Karin Soares; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Gutmann, David H.; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; Peltonen, Sirkku; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Stemmer-Rachamimov, Anat; Stevenson, David A.; Tadini, Gianluca; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Evans, D. Gareth; Plotkin, Scott R.

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Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism

HUMAN MUTATION

IF3.7

2020-04-13

OAAI

Kluwe, Lan; Friedrich, Reinhard E.; Farschtschi, Said C.; Hagel, Christian; Kehrer-Sawatzki, Hildegard; Mautner, Victor-Felix

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

HUMAN GENETICS

IF3.6

2018-11-26

PREAI

Summerer, Anna; Schaefer, Eleonora; Mautner, Victor-Felix; Messiaen, Ludwine; Cooper, David N.; Kehrer-Sawatzki, Hildegard

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

HUMAN GENETICS

IF3.6

2018-07-13

OAAI

Kehrer-Sawatzki, Hildegard; Kluwe, Lan; Friedrich, Reinhard E.; Summerer, Anna; Schaefer, Eleonora; Wahllaender, Ute; Matthies, Cordula; Gugel, Isabel; Farschtschi, Said; Hagel, Christian; Cooper, David N.; Mautner, Victor-Felix

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

HUMAN GENETICS

IF3.6

2018-07-10

PREAI

Summerer, Anna; Mautner, Victor-Felix; Upadhyaya, Meena; Claes, Kathleen B. M.; Hoegel, Josef; Cooper, David N.; Messiaen, Ludwine; Kehrer-Sawatzki, Hildegard

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

HUMAN GENETICS

IF3.6

2018-05-05

OAAI

Neuhaeusler, Lisa; Summerer, Anna; Cooper, David N.; Mautner, Victor-F.; Kehrer-Sawatzki, Hildegard

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

HUMAN MUTATION

IF3.7

2017-09-22

OAAI

Hillmer, Morten; Summerer, Anna; Mautner, Victor-Felix; Hoegel, Josef; Cooper, David N.; Kehrer-Sawatzki, Hildegard

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Emerging genotype-phenotype relationships in patients with large NF1 deletions

HUMAN GENETICS

IF3.6

2017-02-17

177

OAAI

Kehrer-Sawatzki, Hildegard; Mautner, Victor-Felix; Cooper, David N.

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The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

HUMAN GENETICS

IF3.6

2016-12-05

OAAI

Kehrer-Sawatzki, Hildegard; Farschtschi, Said; Mautner, Victor-Felix; Cooper, David N.

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Multifocal Nerve Lesions and LZTR1 Germline Mutations in Segmental Schwannomatosis

ANNALS OF NEUROLOGY

IF7.7

2016-08-13

PREAI

Farschtschi, Said; Mautner, Victor-Felix; Pham, Mirko; Rosa Nguyen; Kehrer-Sawatzki, Hildegard; Hutter, Sonja; Friedrich, Reinhard E.; Schulz, Alexander; Morrison, Helen; Jones, David T. W.; Bendszus, Martin; Baeumer, Philipp

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No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

HUMAN GENETICS

IF3.6

2016-03-11

PREAI

Hutter, Sonja; Piro, Rosario M.; Waszak, Sebastian M.; Kehrer-Sawatzki, Hildegard; Friedrich, Reinhard E.; Lassaletta, Alvaro; Witt, Olaf; Korbel, Jan O.; Lichter, Peter; Schuhmann, Martin U.; Pfister, Stefan M.; Tabori, Uri; Mautner, Victor F.; Jones, David T. W.

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

HUMAN MOLECULAR GENETICS

IF3.2

2015-11-27

OAAI

Hillmer, Morten; Wagner, David; Summerer, Anna; Daiber, Michaela; Mautner, Victor-Felix; Messiaen, Ludwine; Cooper, David N.; Kehrer-Sawatzki, Hildegard

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Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

GENES CHROMOSOMES & CANCER

IF2.8

2015-05-29

PREAI

Spyra, Melanie; Otto, Benjamin; Schoen, Gerhard; Kehrer-Sawatzki, Hildegard; Mautner, Victor-Felix

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Research Directions