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Publications

Featured publications

  • Meta-Analysis of Mutations in or Identified in a Large Cohort of 224 Patients.

    Genes

    Authors: 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 D Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer

  • NCSTN Deficiency and Depigmentation: All About Tyrosinase?

    The Journal of investigative dermatology

    Authors: Matthias A Hermasch, Helena Janning, Viktor Schnabel, Wiebke Muschalek, Anette Bennemann, Michael P Schön, Regina C Betz, Roland Dosch, Jorge Frank

  • The Alopecia Areata Consensus of Experts (ACE) study part II: Results of an international expert opinion on diagnosis and laboratory evaluation 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 D Sinclair

  • 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