Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans von Hermasch, Matthias Andreas, Janning, Helena, Perera, Roshan Priyarangana, Schnabel, Viktor, Rostam, Nadia, Ramos-Gomes, Fernanda, Muschalek, Wiebke, Bennemann, Anette, Alves, Frauke, Ralser, Damian Johannes, Betz, Regina Christine, Schön, Michael Peter, Dosch, Roland, Frank, Jorge

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Richner–Hanhart Syndrome Detected by Expanded Newborn Screening von Meissner, Thomas, Betz, Regina Christine, Pasternack, Sandra M., Eigelshoven, Sibylle, Ruzicka, Thomas, Kruse, Roland, Laitenberger, Gitta, Mayatepek, Ertan

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Richner-Hanhart Syndrome Detected by Expanded Newborn Screening von Meissner, Thomas, Betz, Regina Christine, Pasternack, Sandra M., Eigelshoven, Sibylle, Ruzicka, Thomas, Kruse, Roland, Laitenberger, Gitta, Mayatepek, Ertan

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors von Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian P., Mundlos, Stefan, Nöthen, Markus M., Krawitz, Peter M.

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Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology von Heilmann, Stefanie, Kiefer, Amy K., Fricker, Nadine, Drichel, Dmitriy, Hillmer, Axel M., Herold, Christine, Tung, Joyce Y., Eriksson, Nicholas, Redler, Silke, Betz, Regina C., Li, Rui, Kárason, Ari, Nyholt, Dale R., Song, Kijoung, Vermeulen, Sita H., Kanoni, Stavroula, Dedoussis, George, Martin, Nicholas G., Kiemeney, Lambertus A., Mooser, Vincent, Stefansson, Kari, Brent Richards, J., Becker, Tim, Brockschmidt, Felix F., Hinds, David A., Nöthen, Markus M.

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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals von Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J, Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Garcia Bartels, Natalie, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Márta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Günter, Betz, Regina C

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Follow-Up Study of the First Genome-Wide Association Scan in Alopecia Areata: IL13 and KIAA0350 as Susceptibility Loci Supported with Genome-Wide Significance von Jagielska, Dagny, Redler, Silke, Brockschmidt, Felix F., Herold, Christine, Pasternack, Sandra M., Garcia Bartels, Natalie, Hanneken, Sandra, Eigelshoven, Sibylle, Refke, Melanie, Barth, Sandra, Giehl, Kathrin A., Kruse, Roland, Lutz, Gerhard, Wolff, Hans, Blaumeiser, Bettina, Böhm, Markus, Blume-Peytavi, Ulrike, Becker, Tim, Nöthen, Markus M., Betz, Regina C.

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Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia von Hillmer, Axel M., Hanneken, Sandra, Ritzmann, Sibylle, Becker, Tim, Freudenberg, Jan, Brockschmidt, Felix F., Flaquer, Antonia, Freudenberg-Hua, Yun, Jamra, Rami Abou, Metzen, Christine, Heyn, Uwe, Schweiger, Nadine, Betz, Regina C., Blaumeiser, Bettina, Hampe, Jochen, Schreiber, Stefan, Schulze, Thomas G., Hennies, Hans Christian, Schumacher, Johannes, Propping, Peter, Ruzicka, Thomas, Cichon, Sven, Wienker, Thomas F., Kruse, Roland, Nöthen, Markus M.

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Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease von Betz, Regina C., Pforr, Jana, Flaquer, Antonia, Redler, Silke, Hanneken, Sandra, Eigelshoven, Sibylle, Kortüm, Anne-Katrin, Tüting, Thomas, Lambert, Julien, De Weert, Jozef, Hillmer, Axel M., Schmael, Christine, Wienker, Thomas F., Kruse, Roland, Lutz, Gerhard, Blaumeiser, Bettina, Nöthen, Markus M.

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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis von McLean, W H Irwin, He, Chun-Di, Zhang, Xue, Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y

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Genetic Variants in CTLA4 Are Strongly Associated with Alopecia Areata von John, Karsten K-G, Brockschmidt, Felix F., Redler, Silke, Herold, Christine, Hanneken, Sandra, Eigelshoven, Sibylle, Giehl, Kathrin A., De Weert, Jozef, Lutz, Gerhard, Kruse, Roland, Wolff, Hans, Blaumeiser, Bettina, Böhm, Markus, Becker, Tim, Nöthen, Markus M., Betz, Regina C.

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors von Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W, Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C, Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B, Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J, Spielmann, Malte, Schaaf, Christian P, Mundlos, Stefan, Nöthen, Markus M, Krawitz, Peter M

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GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors von Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian, Mundlos, Stefan, Nöthen, Markus M., Krawitz, Peter

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Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26 von Hillmer, Axel M., Flaquer, Antonia, Hanneken, Sandra, Eigelshoven, Sibylle, Kortüm, Anne-Katrin, Brockschmidt, Felix F., Golla, Astrid, Metzen, Christine, Thiele, Holger, Kolberg, Susanne, Reinartz, Roman, Betz, Regina C., Ruzicka, Thomas, Hennies, Hans Christian, Kruse, Roland, Nöthen, Markus M.

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Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata von FORSTBAUER, Lina M, BROCKSCHMIDT, Felix F, ALBLAS, Margrieta, HANNEKEN, Sandra, EIGELSHOVEN, Sibylle, GIEHL, Kathrin A, JAGIELSKA, Dagny, BLUME-PEYTAVI, Ulrike, GARCIA BARTELS, Natalie, KUHN, Jennifer, CHRISTIAN HENNIES, Hans, GOEBELER, Matthias, MOSKVINA, Valentina, JUNG, Andreas, PEITSCH, Wiebke K, KORTÜM, Anne-Katrin, MOLL, Ingrid, KRUSE, Roland, LUTZ, Gerhard, WOLFF, Hans, BLAUMEISER, Bettina, BÖHM, Markus, KIROV, George, HEROLD, Christine, BECKER, Tim, NÖTHEN, Markus M, BETZ, Regina C, REDLER, Silke, HERZOG, Alexandra, HILLMER, Axel M, MEESTERS, Christian, HEILMANN, Stefanie, ALBERT, Florian

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Follow-Up Study of the First Genome-Wide Association Scan in Alopecia Areata: IL 13 and KIAA0350 as Susceptibility Loci Supported with Genome-Wide Significance von JAGIELSKA, Dagny, REDLER, Silke, GIEHL, Kathrin A, KRUSE, Roland, LUTZ, Gerhard, WOLFF, Hans, BLAUMEISER, Bettina, BÖHM, Markus, BLUME-PEYTAVI, Ulrike, BECKER, Tim, NÖTHEN, Markus M, BETZ, Regina C, BROCKSCHMIDT, Felix F, HEROLD, Christine, PASTERNACK, Sandra M, GARCIA BARTELS, Natalie, HANNEKEN, Sandra, EIGELSHOVEN, Sibylle, REFKE, Melanie, BARTH, Sandra

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Genome-wide Scan and Fine-Mapping Linkage Study of And rogenetic Alopecia Reveals a Locus on Chromosome 3q26 von Hillmer, Axel M, Flaquer, Antonia, Hanneken, Sandra, Eigelshoven, Sibylle, Kortüm, Anne-Katrin, Brockschmidt, Felix F, Golla, Astrid, Metzen, Christine, Thiele, Holger, Kolberg, Susanne, Reinartz, Roman, Betz, Regina C, Ruzicka, Thomas, Hennies, Hans Christian, Kruse, Roland, Nöthen, Markus M

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Loss-of-function mutations of an inhibitory upstream orf in the human hairless transcript cause marie unna hereditary hypotrichosis

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Erratum: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis von Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y, McLean, W H Irwin, He, Chun-Di, Zhang, Xue

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Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis von Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y, McLean, W H Irwin, He, Chun-Di, Zhang, Xue

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