Regina C Betz (R C Betz)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 37

Top Venues

The British journal of dermatology

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Nature genetics

Journal of the European Academy of Dermatology and Venereology : JEADV

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

Publications

Xing Xiong, Nicole Cesarato, Yasmina Gossmann, Maria Wehner, Sheetal Kumar, Holger Thiele, Stephanie Demuth, Vinzenz Oji, Matthias Geyer, Henning Hamm, F Buket Basmanav, Regina C Betz
A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix. The British journal of dermatology (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schuelke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Nasir Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje G Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik Sebastian Westphal, Tim Strom, Reka Kovacs, Korbinian Maria Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian H Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Maria Nöthen, Olaf H Rieß, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias B Haack, Nadja Ehmke, Matias Wagner
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature genetics 56 (8) (2024)
Ariane Heyers, F Buket Basmanav, Regina C Betz
Uncombable hair syndrome: Burdensome or captivating? Clinical and experimental dermatology (2024)
Xing Xiong, Nicole Cesarato, Yasmina Gossmann, Maria Wehner, Sheetal Kumar, Holger Thiele, Stephanie Demuth, Vinzenz Oji, Matthias Geyer, Henning Hamm, F Buket Basmanav, Regina C Betz
A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix. The British journal of dermatology (2024)
Jerome Clifford Foo, S Redler, A J Forstner, F B Basmanav, L Pethukova, Jia Guo, F Streit, S H Witt, L Sirignano, L Zillich, S Avasthi, S Ripke, A M Christiano, F Tesch, J Schmitt, M M Nöthen, Regina C Betz, M Rietschel, J Frank
Exploring the overlap between alopecia areata and major depressive disorder: Epidemiological and genetic perspectives. Journal of the European Academy of Dermatology and Venereology : JEADV (2023)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Jerome Clifford Foo, S Redler, A J Forstner, F B Basmanav, L Pethukova, Jia Guo, F Streit, S H Witt, L Sirignano, L Zillich, S Avasthi, S Ripke, A M Christiano, F Tesch, J Schmitt, M M Nöthen, Regina C Betz, M Rietschel, J Frank
Exploring the Overlap Between Alopecia Areata and Major Depressive Disorder: Epidemiological and Genetic Perspectives. Journal of the European Academy of Dermatology and Venereology : JEADV (2023)
F Buket Basmanav, Regina C Betz
Recent advances in the genetics of alopecia areata. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
F Buket Basmanav, Regina C Betz
Recent advances in the genetics of alopecia areata. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Nicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, Sabrina K Henne, Kathrin Hillmann, Leonie H Frommherz, Maria Wehner, Xing Xiong, Holger Thiele, Vinzenz Oji, Donatella Milani, Iliana Tantcheva-Poor, Kathrin Giehl, Regina Fölster-Holst, Anne Teichler, Delphine Braeckmans, Peter H Hoeger, Gabriela Jones, Jorge Frank, Lisa Weibel, Ulrike Blume-Peytavi, Henning Hamm, Markus M Nöthen, Matthias Geyer, Stefanie Heilmann-Heimbach, F Buket Basmanav, Regina C Betz
Short anagen hair syndrome: Association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss. The British journal of dermatology (2023)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Regina C Betz, Ulrike Hüffmeier
Dermatological diseases from a genetic perspective. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
F Buket Basmanav, Regina C Betz
Recent advances in the genetics of alopecia areata. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Sheetal Kumar, Jonas Hausen, Sugirthan Sivalingam, Aytaj Humbatova, Andreas Buness, Jorge Frank, Damian J Ralser, Regina C Betz
Altered Notch signalling in Dowling-Degos disease: A transcriptomic insight into disease pathogenesis. The British journal of dermatology (2023)
F Buket Basmanav, Regina C Betz
Recent advances in the genetics of alopecia areata. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Jerome Clifford Foo, S Redler, A J Forstner, F B Basmanav, L Pethukova, Jia Guo, F Streit, S H Witt, L Sirignano, L Zillich, S Avasthi, S Ripke, A M Christiano, F Tesch, J Schmitt, M M Nöthen, Regina C Betz, M Rietschel, J Frank
Exploring the overlap between alopecia areata and major depressive disorder: Epidemiological and genetic perspectives. Journal of the European Academy of Dermatology and Venereology : JEADV (2023)
Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie-Paule Gellé, Holger Thiele, Regina C Betz, Manuelle Viguier, Laurence Gusdorf
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 47 (7) (2022)
Regina C Betz
Genetic lessons learned from pathogenic variants in KRT1. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (10) (2022)
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, Stephane Bezieau, 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 Maria Nöthen, Peter M Krawitz
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nature genetics 54 (3) (2022)
Lara M Hochfeld, Marta Bertolini, David Broadley, Natalia V Botchkareva, Regina C Betz, Susanne Schoch, Markus Maria Nöthen, Stefanie Heilmann-Heimbach
Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness. PloS one 16 (9) (2021)
Evgeniya Denisova, Dana Westphal, Harald M Surowy, Friedegund Meier, Barbara Hutter, Julia Reifenberger, Arno Rütten, Alexander Schulz, Mildred Sergon, Mirjana Ziemer, Benedikt Brors, Regina C Betz, Silke Redler
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies. Cancer gene therapy (2021)
C Pan, A Humbatova, L Zheng, N Cesarato, C Grimm, F Chen, B Blaumeiser, A Catalán-Lambán, A Patiño-García, U Fischer, R Cheng, Y Li, X Yu, Zhirong Yao, Qian Liu, Regina C Betz
Additional causal SNRPE mutations in hereditary hypotrichosis simplex. The British journal of dermatology 185 (2) (2021)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Katalin Komlosi, Kathrin Giehl, Bakar Bouadjar, Anette Bygum, Iliana Tantcheva-Poor, Maritta Hellström Pigg, Cristina Has, Zhou Yang, Alan D Irvine, Regina C Betz, Giovanna Zambruno, Gianluca Tadini, Kira Süßmuth, Robert Gruber, Matthias Schmuth, Juliette Mazereeuw-Hautier, Natalie Jonca, Sophie Guez, Michela Brena, Angela Hernandez-Martin, Peter van den Akker, Maria C Bolling, Katariina Hannula-Jouppi, Andreas David Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes 12 (1) (2021)
Nicole Cesarato, Maria Wehner, Mariam Ghughunishvili, Axel Schmidt, Daisy Axt, Holger Thiele, Michael J Lentze, Cristina Has, Matthias Geyer, Fitnat Buket Basmanav, Regina C Betz
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. American journal of medical genetics. Part A 185 (12) (2021)
D J Ralser, S Kumar, O Borisov, O Sarig, G Richard, S Wolf, P M Krawitz, E Sprecher, M Kreiß, Regina C Betz
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. The British journal of dermatology 183 (4) (2020)
Annika E Schlaweck, Rachid Tazi-Ahnini, F Buket Ü Basmanav, Javed Mohungoo, Sandra M Pasternack-Ziach, Manuel Mattheisen, Ana-Maria Oprisoreanu, Aytaj Humbatova, Sabrina Wolf, Andrew Messenger, Regina C Betz
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. PloS one 14 (12) (2019)
Regina C Betz
Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level. The British journal of dermatology 181 (2) (2019)
J Knuever, Oana-Diana Persa, A Illerhaus, D J Ralser, K Hartmann, Regina C Betz, I Tantcheva-Poór
Mast cell activation in Dowling-Degos disease. The British journal of dermatology 181 (6) (2019)
Silke Redler, Andrew G Messenger, Regina C Betz
Genetics and other factors in the aetiology of female pattern hair loss. Experimental dermatology 26 (6) (2018)
A Humbatova, R Maroofian, M-T Romano, A Tafazzoli, M Behnam, N Dilaver, N Nouri, M Salehi, S Wolf, J Frank, P Kokordelis, Regina C Betz
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. The British journal of dermatology 178 (4) (2018)
Regina C Betz
A path through the reticulate pigmentation disorder jungle. The British journal of dermatology 177 (4) (2017)
Johannes Fischer, Franziska Degenhardt, Andrea Hofmann, Silke Redler, F Buket Basmanav, Stefanie Heilmann-Heimbach, Sandra Hanneken, Kathrin A Giehl, Hans Wolff, Susanne Moebus, Roland Kruse, Gerhard Lutz, Bettina Blaumeiser, Markus Böhm, Natalie Garcia Bartels, Ulrike Blume-Peytavi, Lynn Petukhova, Angela M Christiano, Markus M Nöthen, Regina C Betz
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2. Experimental dermatology 26 (6) (2017)
Regina C Betz
Nails - more than just an ectodermal appendage: the genetics behind isolated nail disorders. The British journal of dermatology 173 (4) (2016)

Regina C Betz.css-eqlu8i{font-size:small;padding-left:4px;} (R C Betz)

Publication Activity (10 Years)

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Regina C Betz (R C Betz)