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Publications

featured publications

  • Genetic lessons learned from pathogenic variants in KRT1.

    Journal of the European Academy of Dermatology and Venereology : JEADV

    Authors: Regina C Betz

  • Translational impact of omics studies in alopecia areata: recent advances and future perspectives.

    Expert review of clinical immunology

    Authors: F Buket Basmanav, Regina C Betz

  • [Uncombable hair].

    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

    Authors: Jakob Lillemoen Drivenes, Ramon Grimalt, Regina C Betz

  • Phänotypische Vielfalt bei Varianten im TP63-Gen.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C Betz, Silke Redler

  • Phenotype diversity associated with TP63 mutations.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C Betz, Silke Redler

  • A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

    Clinical and experimental dermatology

    Authors: Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie-Paule Gellé, Holger Thiele, Regina C Betz, Manuelle Viguier, Laurence Gusdorf

  • A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome.

    Lancet (London, England)

    Authors: Jakob Lillemoen Drivenes, Regina C Betz, Anette Bygum

  • Top publication

    GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

    Nature genetics

    Authors: Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J Lyon, Malte Spielmann, Christian P Schaaf, Stefan Mundlos, Markus M Nöthen, Peter M Krawitz

  • Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.

    Human mutation

    Authors: Hannah L Marko, Nadine C Hornig, Regina C Betz, Paul-Martin Holterhus, Janine Altmüller, Holger Thiele, Marietta Fabiano, Hans-Udo Schweikert, Doreen Braun, Ulrich Schweizer

  • A woman with hyperpigmented macules and papules.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Viktor Schnabel, Matthias A Hermasch, Sabrina Wolf, Michael P Schön, Regina C Betz, Jorge Frank