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Hildegard Kehrer-Sawatzki

Hildegard Kehrer-Sawatzki

D-Index & Metrics

Genetics

D-Index
46
Citations
11631
World Ranking
4148
National Ranking
278

Overview

Hildegard Kehrer-Sawatzki is affiliated with the University of Ulm in Germany and specializes primarily in the field of Medicine, with a significant focus on Neurology, Rheumatology, and Molecular Biology. Their research work prominently addresses neurofibromatosis and schwannoma cases, alongside related topics such as soft tissue tumor case studies, sarcoma diagnosis and treatment, chromatin remodeling and cancer, meningioma and schwannoma management, bone tumor diagnosis and treatments, and vascular malformations and hemangiomas.

The scientist has contributed to several frequent publication venues, including Human Genetics, OPAL (Open@LaTrobe) (La Trobe University), Genetics in Medicine, JDDG Journal der Deutschen Dermatologischen Gesellschaft, and the International Journal of Molecular Sciences.

Recent papers authored or co-authored by Hildegard Kehrer-Sawatzki include:

  • 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, 2021, Human Genetics
  • Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions, 2021, Human Genetics
  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation, 2021, Genetics in Medicine
  • Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation, 2022, Genetics in Medicine
  • The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1, 2020, PLoS ONE

Frequent co-authors collaborating with Hildegard Kehrer-Sawatzki include Said Farschtschi, D.N. Cooper, Victor-Felix Mautner, Lennart Well, and Victor F. Mautner.

Their research intersects multidisciplinary aspects within Medicine, focusing extensively on subfields such as Neurology, Rheumatology, and Molecular Biology. The specific topics they engage with involve:

  • Neurofibromatosis and Schwannoma Cases
  • Soft tissue tumor case studies
  • Sarcoma Diagnosis and Treatment
  • Chromatin Remodeling and Cancer
  • Meningioma and schwannoma management
  • Bone Tumor Diagnosis and Treatments
  • Vascular Malformations and Hemangiomas

Best Publications

  • Encyclopedia of life sciences

    Yixian Zheng;Cheryl Tickle;Roland Jansson;Hildegard Kehrer-Sawatzki

  • Evolutionary and biomedical insights from the rhesus macaque genome

    Richard A. Gibbs;Jeffrey Rogers

  • Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

    David Neil Cooper;Michael Krawczak;Constantin Polychronakos;Chris Tyler-Smith

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

    E Legius;L Messiaen;P Wolkenstein;P Pancza

  • PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

    Thomas De Raedt;Eline Beert;Eric Pasmant;Armelle Luscan

  • A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?

    Ulrich Zechner;Monika Wilda;Hildegard Kehrer-Sawatzki;Walther Vogel

  • Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.

    Lan Kluwe;Reiner Siebert;Stefan Gesk;Reinhard E. Friedrich

  • Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics

    David Neil Cooper;Jian-Min Chen;Edward Vincent Ball;Katy Howells

  • Emerging genotype–phenotype relationships in patients with large NF1 deletions

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

  • Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

    V. F. Mautner;L. Kluwe;R. E. Friedrich;A. C. Roehl

  • Recombination hotspot in NF1 microdeletion patients

    Catalina López-Correa;Michael Dorschner;Hilde Brems;Conxi Lázaro

  • High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

    H. Kehrer-Sawatzki;L. Kluwe;C. Sandig;M. Kohn

  • Genomic rearrangements in inherited disease and cancer.

    Jian-Min Chen;David Neil Cooper;Claude Férec;Hildegard Kehrer-Sawatzki

  • Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.

    Dieter E. Jenne;Sigrid Tinschert;Heike Reimann;Wolfgang Lasinger

  • Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

    K. Wimmer;S. Yao;K. Claes;H. Kehrer-Sawatzki

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

    Hildegard Kehrer-Sawatzki;Said Farschtschi;Victor-Felix Mautner;David Neil Cooper

  • On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

    David Neil Cooper;Albino Bacolla;Claude Férec;Karen M. Vasquez

  • Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

    Ludwine Messiaen;Julia Vogt;Kathrin Bengesser;Chuanhua Fu

  • Reconstruction of a 450-My-old ancestral vertebrate protokaryotype

    Matthias Kohn;Josef Högel;Walther Vogel;Peter Minich

  • The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

    Hildegard Kehrer-Sawatzki;Jürgen Häussler;Winfried Krone;Harald Bode

Frequent Co-Authors

David Neil Cooper
David Neil Cooper Cardiff University
Horst Hameister
Horst Hameister University of Ulm
Ludwine Messiaen
Ludwine Messiaen University of Alabama at Birmingham
Nadia Chuzhanova
Nadia Chuzhanova Nottingham Trent University
Eric Legius
Eric Legius KU Leuven
Conxi Lázaro
Conxi Lázaro Institut d'Investigació Biomédica de Bellvitge
Meena Upadhyaya
Meena Upadhyaya Cardiff University
Dieter E. Jenne
Dieter E. Jenne Max Planck Society
Walther Vogel
Walther Vogel University of Ulm
Kathleen Claes
Kathleen Claes Ghent University Hospital

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