Publikationen von 0000-0002-2624-9889
(ORCID: 0000-0002-2624-9889)

Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B. , Navajas Acedo, Joaquin, Linscott, Luke L. , Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R. , Trainor, Paul A. , Wieczorek, Dagmar und Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. The American Journal of Human Genetics 96 (5), S. 765-774. Volltext nicht vorhanden.

Maerker, David A., Zeschnigk, M., Nelles, J., Lohmann, D. R. , Worm, K., Bosserhoff, Anja-Katrin , Krupar, Rosemarie und Jägle, Herbert (2014) BAP1 germline mutation in two first grade family members with uveal melanoma. British Journal of Ophthalmology 98, S. 224-227.

Wieczorek, Dagmar, Newman, William G. , Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian , Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G. , Bhaskar, Sanjeev S., Urquhart, Jill E. , Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R. , Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas , Burn, John, Lüdecke, Hermann-Josef und Strom, Tim M. (2014) Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. The American Journal of Human Genetics 95 (6), S. 698-707. Volltext nicht vorhanden.

Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy , Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria , Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R. , Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar und Boycott, Kym M. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. The American Journal of Human Genetics 90 (2), S. 369-377. Volltext nicht vorhanden.

Schlump, Jan-Ulrich, Stein, Anja, Hehr, Ute, Karen, Tanja, Möller-Hartmann, Claudia, Elcioglu, Nursel H., Bogdanova, Nadja, Woike, Hartmut Fritz, Lohmann, Dietmar R. , Felderhoff-Mueser, Ursula, Linz, Annette und Wieczorek, Dagmar (2012) Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. European Journal of Pediatrics 171 (11), S. 1611-1618. Volltext nicht vorhanden.

Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane , Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R , Hehr, Ute, Dixon, Michael J, Breuning, Martijn H und Wieczorek, Dagmar (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nature Genetics 43 (1), S. 20-22. Volltext nicht vorhanden.

Wieczorek, Dagmar, Gener, Blanca, González, Ma Jesús Martínez, Seland, Saskia, Fischer, Sven, Hehr, Ute, Kuechler, Alma, Hoefsloot, Lies H., de Leeuw, Nicole, Gillessen‐Kaesbach, Gabriele und Lohmann, Dietmar R. (2009) Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. American Journal of Medical Genetics Part A 149A (5), S. 837-843. Volltext nicht vorhanden.