Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

von Eggermann, Thomas, Kadgien, Gundula, Begemann, Matthias, Elbracht, Miriam
Veröffentlicht in Eur J Hum Genet (2020)

Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients

von Eggermann, Thomas, Ledig, Susanne, Begemann, Matthias, Elbracht, Miriam, Kurth, Ingo, Wieacker, Peter
Veröffentlicht in Mol Genet Genomic Med (2018)

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

von Kraft, Florian, Wesseler, Katharina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas
Veröffentlicht in Clin Epigenetics (2019)

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

von Elbracht, Miriam, Senderek, Jan, Eggermann, Thomas, Thürmer, Christian, Park, Jonas, Westhofen, Martin, Zerres, Klaus
Veröffentlicht 2007

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

von Soellner, Lukas, Kraft, Florian, Sauer, Sabrina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas
Veröffentlicht in Eur J Hum Genet (2018)

Aggressive infantile myofibromatosis with intestinal involvement

von Römer, Tristan, Wagner, Norbert, Braunschweig, Till, Meyer, Robert, Elbracht, Miriam, Kontny, Udo, Moser, Olga
Veröffentlicht in Mol Cell Pediatr (2021)

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

von Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas
Veröffentlicht in Mol Cytogenet (2017)

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

von Eggermann, Thomas, Brück, Johanna, Knopp, Cordula, Fekete, György, Kratz, Christian, Tasic, Velibor, Kurth, Ingo, Elbracht, Miriam, Eggermann, Katja, Begemann, Matthias
Veröffentlicht in J Mol Med (Berl) (2020)

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

von Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo, Hehr, Ute
Veröffentlicht in Mol Genet Genomic Med (2018)

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

von Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel, Begemann, Matthias, Kanber, Deniz, Platzer, Konrad, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew, Heller, Raoul, Buiting, Karin, Eggermann, Thomas
Veröffentlicht in Eur J Hum Genet (2015)

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

von Much, Christiane D., Schwefel, Konrad, Skowronek, Dariush, Shoubash, Loay, von Podewils, Felix, Elbracht, Miriam, Spiegler, Stefanie, Kurth, Ingo, Flöel, Agnes, Schroeder, Henry W. S., Felbor, Ute, Rath, Matthias
Veröffentlicht in Front Neurol (2019)

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

von Bohne, Florian, Langer, David, Martiné, Ursula, Eider, Claudia S., Cencic, Regina, Begemann, Matthias, Elbracht, Miriam, Bülow, Luzie, Eggermann, Thomas, Zechner, Ulrich, Pelletier, Jerry, Zabel, Bernhard Ulrich, Enklaar, Thorsten, Prawitt, Dirk
Veröffentlicht in Clin Epigenetics (2016)

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

von Eggermann, Thomas, Elbracht, Miriam, Kurth, Ingo, Juul, Anders, Johannsen, Trine Holm, Netchine, Irène, Mastorakos, George, Johannsson, Gudmundur, Musholt, Thomas J., Zenker, Martin, Prawitt, Dirk, Pereira, Alberto M., Hiort, Olaf
Veröffentlicht in Orphanet J Rare Dis (2020)

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

von Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Elgizouli, Magdeldin, Schara, Ulrike, Ambrozaityte, Laima, Burnyte, Birute, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Fekete, Gyorgy, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas
Veröffentlicht in Orphanet J Rare Dis (2021)

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

von Karsai, Gergely, Kraft, Florian, Haag, Natja, Korenke, G. Christoph, Hänisch, Benjamin, Othman, Alaa, Suriyanarayanan, Saranya, Steiner, Regula, Knopp, Cordula, Mull, Michael, Bergmann, Markus, Schröder, J. Michael, Weis, Joachim, Elbracht, Miriam, Begemann, Matthias, Hornemann, Thorsten, Kurth, Ingo
Veröffentlicht in J Clin Invest (2019)

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

von Senderek, Jan, Garvey, Sean M., Krieger, Michael, Guergueltcheva, Velina, Urtizberea, Andoni, Roos, Andreas, Elbracht, Miriam, Stendel, Claudia, Tournev, Ivailo, Mihailova, Violeta, Feit, Howard, Tramonte, Jeff, Hedera, Peter, Crooks, Kristy, Bergmann, Carsten, Rudnik-Schöneborn, Sabine, Zerres, Klaus, Lochmüller, Hanns, Seboun, Eric, Weis, Joachim, Beckmann, Jacques S., Hauser, Michael A., Jackson, Charles E.
Veröffentlicht 2009

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

von Hedberg-Oldfors, Carola, Meyer, Robert, Nolte, Kay, Abdul Rahim, Yassir, Lindberg, Christopher, Karason, Kristjan, Thuestad, Inger Johanne, Visuttijai, Kittichate, Geijer, Mats, Begemann, Matthias, Kraft, Florian, Lausberg, Eva, Hitpass, Lea, Götzl, Rebekka, Luna, Elizabeth J, Lochmüller, Hanns, Koschmieder, Steffen, Gramlich, Michael, Gess, Burkhard, Elbracht, Miriam, Weis, Joachim, Kurth, Ingo, Oldfors, Anders, Knopp, Cordula
Veröffentlicht in Brain (2020)

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

von Begemann, Matthias, Waszak, Sebastian M., Robinson, Giles W., Jäger, Natalie, Sharma, Tanvi, Knopp, Cordula, Kraft, Florian, Moser, Olga, Mynarek, Martin, Guerrini-Rousseau, Lea, Brugieres, Laurence, Varlet, Pascale, Pietsch, Torsten, Bowers, Daniel C., Chintagumpala, Murali, Sahm, Felix, Korbel, Jan O., Rutkowski, Stefan, Eggermann, Thomas, Gajjar, Amar, Northcott, Paul, Elbracht, Miriam, Pfister, Stefan M., Kontny, Udo, Kurth, Ingo
Veröffentlicht in J Clin Oncol (2020)

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

von Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute
Veröffentlicht 2014

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

von Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G
Veröffentlicht in J Med Genet (2018)