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2022
Tricarico, Paola Maura, Moltrasio, Chiara, Gradisek, Anton, Marzano, Angelo, V, Flacher, Vincent, Boufenghour, Wacym, von Stebut, Esther, Schmuth, Matthias, Jaschke, Wolfram, Gams, Matjaz, Boniotto, Michele and Crovella, Sergio (2022). Holistic health record for Hidradenitis suppurativa patients. Sci Rep, 12 (1). BERLIN: NATURE PORTFOLIO. ISSN 2045-2322
2021
Eckl, Katja M., Gruber, Robert, Brennan, Louise, Marriott, Andrew, Plank, Roswitha, Moosbrugger-Martinz, Verena, Blunder, Stefan, Schossig, Anna, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Zschocke, Johannes, Hennies, Hans Christian and Schmuth, Matthias (2021). Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V. Front. Genet., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021
Hotz, Alrun 
ORCID: 0000-0003-2560-3951, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette ORCID: 0000-0002-3004-0180, Tantcheva-Poor, Iliana, Hellstrom Pigg, Maritta, Has, Cristina ORCID: 0000-0001-6066-507X, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Suessmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter ORCID: 0000-0002-3734-753X, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders and Fischer, Judith ORCID: 0000-0002-8580-8118
(2021).
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Genes, 12 (1).
BASEL:
MDPI.
ISSN 2073-4425
Lima Cunha, Dulce ORCID: 0000-0002-6814-8365, Oram, Amanda, Gruber, Robert, Plank, Roswitha, Lingenhel, Arno, Gupta, Manoj K., Altmuller, Janine ORCID: 0000-0003-4372-1521, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Zschocke, Johannes ORCID: 0000-0002-0046-8274, Saric, Tomo, Eckl, Katja M. and Hennies, Hans C.
(2021).
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.
Int. J. Mol. Sci., 22 (4).
BASEL:
MDPI.
ISSN 1422-0067
2019
Cunha, Dulce Lima, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmueller, Janine, Nuernberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Alabdulkareem, Adnan S., Alnutaifi, Kholood Abdulaziz and Hennies, Hans Christian
(2019).
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Mol. Genet. Genom. Med., 7 (3).
HOBOKEN:
WILEY.
ISSN 2324-9269
2016
Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann ORCID: 0000-0003-3285-4281, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Bamshad, Michael, Bjorck, Erik ORCID: 0000-0002-1210-2245, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus ORCID: 0000-0002-3858-8474, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Romani, Nikolaus ORCID: 0000-0003-1614-9128, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Silver, Rachel, Taylan, Fulya ORCID: 0000-0002-2907-0235, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H. and Zschocke, Johannes ORCID: 0000-0002-0046-8274
(2016).
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am. J. Hum. Genet., 99 (5).
S. 1005 - 1015.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2015
Gruber, Robert, Boernchen, Christian, Rose, Katharina, Daubmann, Anne, Volksdorf, Thomas, Madykowski, Ewa, Vidal-y-Sy, Sabine, Peters, Eva M., Danso, Mogbekeloluwa, Bouwstra, Joke A., Hennies, Hans C., Moll, Ingrid, Schmuth, Matthias ORCID: 0000-0002-4064-1334 and Brandner, Johanna M.
(2015).
Diverse Regulation of Claudin-1 and Claudin-4 in Atopic Dermatitis.
Am. J. Pathol., 185 (10).
S. 2777 - 2790.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1525-2191
2010
Oji, Vinzenz ORCID: 0000-0003-1380-4828, Tadini, Gianluca, Akiyama, Masashi, Bardon, Claudine Blanchet, Bodemer, Christine, Bourrat, Emmanuelle, Coudiere, Philippe, DiGiovanna, John J., Elias, Peter, Fischer, Judith ORCID: 0000-0002-8580-8118, Fleckman, Philip, Gina, Michal, Harper, John, Hashimoto, Takashi, Hausser, Ingrid, Hennies, Hans Christian, Hohl, Daniel, Hovnanian, Alain ORCID: 0000-0003-3412-7512, Ishida-Yamamoto, Akemi, Jacyk, Witold K., Leachman, Sancy, Leigh, Irene, Mazereeuw-Hautier, Juliette, Milstone, Leonard, Morice-Picard, Fanny, Paller, Amy S., Richard, Gabriele, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Shimizu, Hiroshi, Sprecher, Eli, Van Steensel, Maurice, Taieb, Alain, Toro, Jorge R., Vabres, Pierre ORCID: 0000-0001-8693-3183, Vahlquist, Anders, Williams, Mary and Traupe, Heiko
(2010).
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009.
J. Am. Acad. Dermatol., 63 (4).
S. 607 - 642.
NEW YORK:
MOSBY-ELSEVIER.
ISSN 0190-9622