Autosomal dominant intellectual disability

di Wieczorek, Dagmar
Pubblicato in Med Genet (2018)

Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?

di Kuhlen, Michaela, Taeubner, Julia, Wieczorek, Dagmar, Borkhardt, Arndt
Pubblicato in Mol Cell Pediatr (2017)

Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes

di Balliu, Brunilda, Würtz, Rolf P., Horsthemke, Bernhard, Wieczorek, Dagmar, Böhringer, Stefan
Pubblicato in PLoS One (2014)

Family-based germline sequencing in children with cancer

di Kuhlen, Michaela, Taeubner, Julia, Brozou, Triantafyllia, Wieczorek, Dagmar, Siebert, Reiner, Borkhardt, Arndt
Pubblicato in Oncogene (2018)

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

di Zühlke, Christine, Mikat, Barbara, Timmann, Dagmar, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Bürk, Katrin
Pubblicato in Cerebellum Ataxias (2015)

Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis

di Kraemer, Markus, Huynh, Quoc Bao, Wieczorek, Dagmar, Balliu, Brunilda, Mikat, Barbara, Boehringer, Stefan
Pubblicato in PeerJ (2018)

Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

di Brozou, Triantafyllia, Taeubner, Julia, Velleuer, Eunike, Dugas, Martin, Wieczorek, Dagmar, Borkhardt, Arndt, Kuhlen, Michaela
Pubblicato in Eur J Pediatr (2017)

Correction to: Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

di Brozou, Triantafyllia, Taeubner, Julia, Velleuer, Eunike, Dugas, Martin, Wieczorek, Dagmar, Borkhardt, Arndt, Kuhlen, Michaela
Pubblicato in Eur J Pediatr (2017)

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment

di Grothaus, Katrin, Kanber, Deniz, Gellhaus, Alexandra, Mikat, Barbara, Kolarova, Julia, Siebert, Reiner, Wieczorek, Dagmar, Horsthemke, Bernhard
Pubblicato in Epigenetics (2016)

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

di Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin
Pubblicazione 2009

Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene

di Nagy, Rebecca, Wang, Heng, Albrecht, Beate, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Haan, Eric, Meinecke, Peter, de la Chapelle, Albert, Westman, Judith A.
Pubblicazione 2011

Rare Copy Number Variants Are a Common Cause of Short Stature

di Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.
Pubblicazione 2013

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

di Gössling, Katharina L., Schipp, Cyrill, Fischer, Ute, Babor, Florian, Koch, Gerhard, Schuster, Friedhelm R., Dietzel-Dahmen, Jutta, Wieczorek, Dagmar, Borkhardt, Arndt, Meisel, Roland, Kuhlen, Michaela
Pubblicato in Front Immunol (2017)

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

di Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.
Pubblicato in Nat Commun (2019)

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

di Freunscht, Inga, Popp, Bernt, Blank, Rainer, Endele, Sabine, Moog, Ute, Petri, Holger, Prott, Eva-Christina, Reis, Andre, Rübo, Jochen, Zabel, Bernhard, Zenker, Martin, Hebebrand, Johannes, Wieczorek, Dagmar
Pubblicazione 2013

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

di Schäfgen, Johanna, Cremer, Kirsten, Becker, Jessica, Wieland, Thomas, Zink, Alexander M, Kim, Sarah, Windheuser, Isabelle C, Kreiß, Martina, Aretz, Stefan, Strom, Tim M, Wieczorek, Dagmar, Engels, Hartmut
Pubblicato in Eur J Hum Genet (2016)

Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient

di Eidson, Maggie, Wahlstrom, Justin, Beaulieu, Aimee M., Zaidi, Bushra, Carsons, Steven E., Crow, Peggy K., Yuan, Jianda, Wolchok, Jedd D., Horsthemke, Bernhard, Wieczorek, Dagmar, Sant'Angelo, Derek B.
Pubblicazione 2011

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

di Horn, Denise, Wieczorek, Dagmar, Metcalfe, Kay, Barić, Ivo, Paležac, Lidija, Ćuk, Mario, Petković Ramadža, Danijela, Krüger, Ulrike, Demuth, Stephanie, Heinritz, Wolfram, Linden, Tobias, Koenig, Jens, Robinson, Peter N, Krawitz, Peter
Pubblicazione 2014

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

di van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Leroy, Jules G, Kooy, R Frank
Pubblicato in Eur J Hum Genet (2016)

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

di Grasshoff, Ute, Bonin, Michael, Goehring, Ina, Ekici, Arif, Dufke, Andreas, Cremer, Kirsten, Wagner, Nicholas, Rossier, Eva, Jauch, Anna, Walter, Michael, Bauer, Claudia, Bauer, Peter, Horber, Karl, Beck-Woedl, Stefanie, Wieczorek, Dagmar
Pubblicazione 2011