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Publications

featured publications

  • From Hypotrichosis to Frontonasal Dysplasia: Expanding the Phenotypic Spectrum of ALX4 Variants.

    American journal of medical genetics. Part A

    Authors: Nicole Cesarato, Sheetal Kumar, Maria Wehner, Rana Aldisi, Holger Thiele, Henning Hamm, Regina C Betz

  • Do Alopecia Areata and Hair Colour Have a Shared Genetic Component?

    Experimental dermatology

    Authors: Leonie Rieger-Molitor, Carlo Maj, Silke Redler, Yasmina Gossmann, Stephan Ripke, Lynn Pethukova, Angela M Christiano, Markus M Nöthen, F Buket Basmanav, Regina C Betz

  • Multi-cytokine based TWAS for seven inflammatory skin disorders identify candidate causal genes in keratinocytes.

    The Journal of allergy and clinical immunology

    Authors: Haihan Zhang, Matthew T Patrick, Mrinal K Sarkar, Rachael Bogle, Qinmengge Li, Ranjitha Uppala, Bethany E Perez White, Lynn Petukhova, Nick Dand, Philip E Stuart, Angela M Christiano, Michael A Simpson, Jonathan N Barker, Stephan Weidinger, Robert L Modlin, Regina C Betz, Dinesh Khanna, John Varga, J Michelle Kahlenberg, Kevin He, James T Elder, Xiang Zhou, Johann E Gudjonsson, Lam C Tsoi

  • Transcriptomic crossroads: Decoding genes and pathways that connect alopecia areata with chronic inflammatory skin disorders.

    JID innovations : skin science from molecules to population health

    Authors: Hadis Abdolahzadeh, Sabrina Henne, Amir Mokhlesi, Jörg Wenzel, Stefanie Heilmann-Heimbach, Regina C Betz, F Buket Basmanav

  • Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata.

    Frontiers in immunology

    Authors: Marisol Herrera-Rivero, Yasmina Gossmann, Swapnil Awasthi, Nicole Cesarato, Stephan Ripke, Bettina Blaumeiser, Ulrike Blume-Peytavi, Gerhard Lutz, Silke Redler, Markus M Nöthen, Regina C Betz, F Buket Basmanav

  • Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.

    Human genome variation

    Authors: Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Monica Ines Natale, Muhammad Javed Khan, Laura Valinotto, Kifayat Ullah, Wasim Ahmad, Ines Irurzun, Peter M Krawitz, Bo Liang, Regina C Betz

  • A recurrent variant in two patients with EMP2-nEDD.

    The British journal of dermatology

    Authors: Yunran Peng, Nicole Cesarato, Tsenka Tomova-Simitchieva, Sisi Zhao, Huijun Wang, Regina C Betz, Ulrike Blume-Peytavi, Zhimiao Lin

  • Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma.

    The Journal of dermatology

    Authors: Sohail Ahmed, Nicole Cesarato, Ye Li, Xing Xiong, Kifayat Ullah, Hammal Khan, Muhammad Javed Khan, Holger Thiele, Wasim Ahmad, Muhammad Sharif Hasni, Regina C Betz

  • Clinical Implications of Genetic Discoveries on Frontal Fibrosing Alopecia.

    JAMA dermatology

    Authors: F Buket Basmanav, Young-Ae Lee, Regina C Betz

  • Comorbid Bronchial Asthma, Atopic Dermatitis and Hashimoto's Thyroiditis Are Risk Factors for Early-Onset, Severe and Prolonged Alopecia Areata.

    Allergy

    Authors: Annika Friedrich, Marie-Therese Schmitz, Yasmina Gossmann, Silke Redler, Bettina Blaumeiser, Gerhard Lutz, Ulrike Blume-Peytavi, Markus M Nöthen, Regina C Betz, F Buket Basmanav