Skip to main content

Publications

featured publications

  • Insights Into the Biology of Persistent Chemotherapy-Induced Alopecia via Genomic Approaches-An Avenue to Clinical Translation?

    JAMA dermatology

    Authors: Fitnat Buket Basmanav, Markus M Nöthen, Regina C Betz

  • Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

    American journal of human genetics

    Authors: Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M Kroisel, Gianluca Tadini, Scott D Walter, Fabian Hauck, Katta M Girisha, Anne-Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buness, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl-Heinz Grzeschik, Regina C Betz, Zhimiao Lin

  • Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.

    Genetics in medicine : official journal of the American College of Medical Genetics

    Authors: Liron Malki, Ofer Sarig, Nicole Cesarato, Janan Mohamad, Talia Canter, Sari Assaf, Mor Pavlovsky, Dan Vodo, Yossi Anis, Ofer Bihari, Kiril Malovitski, Andrea Gat, Holger Thiele, Bethany E Perez White, Liat Samuelov, Arti Nanda, Amy S Paller, Regina C Betz, Eli Sprecher

  • The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areata.

    Journal of the American Academy of Dermatology

    Authors: Nekma Meah, Dmitri Wall, Katherine York, Bevin Bhoyrul, Laita Bokhari, Daniel Asz Sigall, Wilma F Bergfeld, Regina C Betz, Ulrike Blume-Peytavi, Valerie Callender, Vijaya Chitreddy, Andrea Combalia, George Cotsarelis, Brittany Craiglow, Jeff Donovan, Samantha Eisman, Paul Farrant, Jack Green, Ramon Grimalt, Matthew Harries, Maria Hordinsky, Alan D Irvine, Satoshi Itami, Victoria Jolliffe, Brett King, Won-Soo Lee, Amy McMichael, Andrew Messenger, Paradi Mirmirani, Elise Olsen, Seth J Orlow, Bianca Maria Piraccini, Adriana Rakowska, Pascal Reygagne, Janet L Roberts, Lidia Rudnicka, Jerry Shapiro, Pooja Sharma, Antonella Tosti, Annika Vogt, Martin Wade, Leona Yip, Abraham Zlotogorski, Rodney Sinclair

  • Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

    PloS one

    Authors: 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

  • UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

    Journal of dermatological science

    Authors: Ambreen Ijaz, Sabrina Wolf, Safur Rehman Mandukhail, Sulman Basit, Regina C Betz, Abdul Wali

  • [Not Available].

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

    Authors: Matthias A Hermasch, Michael P Schön, Regina C Betz, Jorge Frank

  • Two females with hair loss.

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

    Authors: Matthias A Hermasch, Michael P Schön, Regina C Betz, Jorge Frank

  • Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

    PloS one

    Authors: Carla Gliem, Martina Minnerop, Sandra Roeske, Hanna Gärtner, Jan-Christoph Schoene-Bake, Sandra Adler, Juri-Alexander Witt, Felix Hoffstaedter, Christiane Schneider-Gold, Regina C Betz, Christoph Helmstaedter, Marc Tittgemeyer, Katrin Amunts, Thomas Klockgether, Bernd Weber, Cornelia Kornblum

  • Variant in Central Centrifugal Cicatricial Alopecia.

    The New England journal of medicine

    Authors: Liron Malki, Ofer Sarig, Maria-Teresa Romano, Marie-Claire Méchin, Alon Peled, Mor Pavlovsky, Emily Warshauer, Liat Samuelov, Laura Uwakwe, Valeria Briskin, Janan Mohamad, Andrea Gat, Ofer Isakov, Tom Rabinowitz, Noam Shomron, Noam Adir, Michel Simon, Amy McMichael, Ncoza C Dlova, Regina C Betz, Eli Sprecher