Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life von Lingen, M., Albers, L., Borchers, M., Haass, S., Gärtner, J., Schröder, S., Goldbeck, L., von Kries, R., Brockmann, K., Zirn, B.

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High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany von Frommherz, L., Krause, A., Kopp, J., Hotz, A., Hübner, S., Reimer‐Taschenbrecker, A., Casetti, F., Zirn, B., Fischer, J., Has, C.

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Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations von Zirn, B., Bernbeck, U., Alt, K., Oeffner, F., Gerhardinger, A., Has, C.

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Expression profiling of Wilms tumors reveals new candidate genes for different clinical parameters von Zirn, B., Hartmann, O., Samans, B., Krause, M., Wittmann, S., Mertens, F., Graf, N., Eilers, M., Gessler, M.

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Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? von Shoukier, M, Klein, N, Auber, B, Wickert, J, Schröder, J, Zoll, B, Burfeind, P, Bartels, I, Alsat, EA, Lingen, M, Grzmil, P, Schulze, S, Keyser, J, Weise, D, Borchers, M, Hobbiebrunken, E, Röbl, M, Gärtner, J, Brockmann, K, Zirn, B

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Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1) von Zirn, B, Grundmann, K, Huppke, P, Puthenparampil, J, Wolburg, H, Riess, O, Müller, U

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Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma von Zirn, B, Arning, L, Bartels, I, Shoukier, M, Hoffjan, S, Neubauer, B, Hahn, A

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Frequency of GCH1 deletions in Dopa-responsive dystonia von Zirn, B, Steinberger, D, Troidl, C, Brockmann, K, von der Hagen, M, Feiner, C, Henke, L, Müller, U

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Phenotypic spectrum associated with CASK loss-of-function mutations von Moog, Ute, Kutsche, Kerstin, Kortüm, Fanny, Chilian, Bettina, Bierhals, Tatjana, Apeshiotis, Neophytos, Balg, Stefanie, Chassaing, Nicolas, Coubes, Christine, Das, Soma, Engels, Hartmut, Van Esch, Hilde, Grasshoff, Ute, Heise, Marisol, Isidor, Bertrand, Jarvis, Joanna, Koehler, Udo, Martin, Thomas, Oehl-Jaschkowitz, Barbara, Ortibus, Els, Pilz, Daniela T, Prabhakar, Prab, Rappold, Gudrun, Rau, Isabella, Rettenberger, Günther, Schlüter, Gregor, Scott, Richard H, Shoukier, Moonef, Wohlleber, Eva, Zirn, Birgit, Dobyns, William B, Uyanik, Gökhan

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A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous... von Dreha-Kulaczewski, S., Kalscheuer, V., Tzschach, A., Hu, H., Helms, G., Brockmann, K., Weddige, A., Dechent, P., Schlüter, G., Krätzner, R., Ropers, H.-H., Gärtner, J., Zirn, B.

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Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders von Botto, Lorenzo D., Meeths, Marie, Campos‐Xavier, Belinda, Bergamaschi, Rosalba, Mazzanti, Laura, Scarano, Emanuela, Finocchi, Andrea, Cancrini, Caterina, Zirn, Birgit, Kühnle, Ingrid, Kramm, Christof Maria, Alanay, Yasemin, Jones, Wendy D., Irving, Melita, Sabir, Ataf, Henter, Jan‐Inge, Borgström, Birgit, Nordgren, Ann, Hammarsjö, Anna, Putti, Caterina, Mozzato, Chiara, Zuccarello, Daniela, Nishimura, Gen, Bonafè, Luisa, Grigelioniene, Giedre, Unger, Sheila, Superti‐Furga, Andrea

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Target genes of the WNT/β-catenin pathway in Wilms tumors von Zirn, Birgit, Samans, Birgit, Wittmann, Stefanie, Pietsch, Thorsten, Leuschner, Ivo, Graf, Norbert, Gessler, Manfred

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All-trans retinoic acid treatment of wilms tumor cells reverses expression of genes associated with high risk and relapse in vivo von ZIRN, Birgit, SAMANS, Birgit, SPANGENBERG, Christian, GRAF, Norbert, EILERS, Martin, GESSLER, Manfred

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Novel Familial WT1 Read-Through Mutation Associated With Wilms Tumor and Slow Progressive Nephropathy von Zirn, Birgit, Wittmann, Stefanie, Gessler, Manfred

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Chibby, a novel antagonist of the Wnt pathway, is not involved in Wilms tumor development von Zirn, Birgit, Wittmann, Stefanie, Graf, Norbert, Gessler, Manfred

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Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations von Zirn, B, Bernbeck, U, Alt, K, Oeffner, F, Gerhardinger, A, Has, C

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes von Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B

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SE373808 von LINDGREN K, ZIRN B J, AHRINGER N O S

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Development of a home‐based auditory training to improve speech recognition on the telephone for patients with cochlear implants: A randomised trial von Ihler, F., Blum, J., Steinmetz, G., Weiss, B.G., Zirn, S., Canis, M.

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ANKRD11 variants: KBG syndrome and beyond von Parenti, Ilaria, Mallozzi, Mark B., Hüning, Irina, Gervasini, Cristina, Kuechler, Alma, Agolini, Emanuele, Albrecht, Beate, Baquero‐Montoya, Carolina, Bohring, Axel, Bramswig, Nuria C., Busche, Andreas, Dalski, Andreas, Guo, Yiran, Hanker, Britta, Hellenbroich, Yorck, Horn, Denise, Innes, A. Micheil, Leoni, Chiara, Li, Yun R., Lynch, Sally Ann, Mariani, Milena, Medne, Livija, Mikat, Barbara, Milani, Donatella, Onesimo, Roberta, Ortiz‐Gonzalez, Xilma, Prott, Eva Christina, Reutter, Heiko, Rossier, Eva, Selicorni, Angelo, Wieacker, Peter, Wilkens, Alisha, Wieczorek, Dagmar, Zackai, Elaine H., Zampino, Giuseppe, Zirn, Birgit, Hakonarson, Hakon, Deardorff, Matthew A., Gillessen‐Kaesbach, Gabriele, Kaiser, Frank J.

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