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2022
Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal ORCID: 0000-0002-5240-079X, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing
ORCID: 0000-0001-5728-150X, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish
ORCID: 0000-0001-9037-701X, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina
ORCID: 0000-0001-9993-7319, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette
ORCID: 0000-0002-3004-0180, Simon, Michel
ORCID: 0000-0003-3655-6329, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter and Betz, Regina C.
(2022).
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
JAMA Dermatol., 158 (11).
S. 1245 - 1254.
CHICAGO:
AMER MEDICAL ASSOC.
ISSN 2168-6084
Schmetz, Ariane ORCID: 0000-0001-8220-7854, Xiong, Xing
ORCID: 0000-0001-5728-150X, Cesarato, Nicole, Basmanav, Fitnat Buket, Gierthmuehlen, Petra, Schaper, Joerg, Schlieper, Daniel, Wehner, Maria, Thiele, Holger, Frank, Jorge, Betz, Regina C. and Redler, Silke
(2022).
Phenotype diversity associated with TP63 mutations.
J. Dtsch. Dermatol. Ges., 20 (6).
S. 872 - 876.
HOBOKEN:
WILEY.
ISSN 1610-0387
2021
Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina ORCID: 0000-0001-6066-507X, Geyer, Matthias
ORCID: 0000-0002-7718-5002, Basmanav, Fitnat Buket and Betz, Regina C.
(2021).
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Am. J. Med. Genet. A, 185 (12).
S. 3900 - 3905.
HOBOKEN:
WILEY.
ISSN 1552-4833
2016
Basmanav, F. Buket U., Cau, Laura ORCID: 0000-0002-2480-536X, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria
ORCID: 0000-0002-9409-0830, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel
ORCID: 0000-0001-8978-8129, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette
ORCID: 0000-0002-3004-0180, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz
ORCID: 0000-0003-1380-4828, Hamm, Henning, Farrant, Paul, Simon, Michel
ORCID: 0000-0003-3655-6329 and Betz, Regina C.
(2016).
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Am. J. Hum. Genet., 99 (6).
S. 1292 - 1305.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2015
Basmanav, F. Buket, Fritz, Guenter ORCID: 0000-0002-4571-8812, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes
ORCID: 0000-0002-2079-1845, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette
ORCID: 0000-0002-3004-0180 and Betz, Regina C.
(2015).
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura.
J. Invest. Dermatol., 135 (2).
S. 615 - 619.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1523-1747
Gollasch, Benjamin, Basmanav, Fitnat Buket, Nanda, Arti ORCID: 0000-0002-1223-3181, Fritz, Guenter
ORCID: 0000-0002-4571-8812, Mahmoudi, Hassnaa, Thiele, Holger, Wehner, Maria, Wolf, Sabrina, Altmueller, Janine, Nuernberg, Peter, Frank, Jorge and Betz, Regina C.
(2015).
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Am. J. Med. Genet. A, 167 (11).
S. 2555 - 2563.
HOBOKEN:
WILEY.
ISSN 1552-4833
2014
Basmanav, F. Buket, Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter
ORCID: 0000-0002-4571-8812, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette
ORCID: 0000-0002-3004-0180, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C.
(2014).
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease.
Am. J. Hum. Genet., 94 (1).
S. 135 - 144.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Guenschmann, Christian, Chiticariu, Elena, Garg, Bhavuk, Hiz, Merve Meliha, Mostmans, Yora, Wehner, Maria and Scharfenberger, Lukas (2014). Transgenic Mouse Technology in Skin Biology: Inducible Gene Knockout in Mice. J. Invest. Dermatol., 134 (7). NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747