Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management

por Wesseler, Katharina, Kraft, Florian, Eggermann, Thomas
Publicado 2019

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

por Kraft, Florian, Wesseler, Katharina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas
Publicado 2019

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

por Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo, Hehr, Ute
Publicado 2018

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

por Kölbel, Heike, Kraft, Florian, Hentschel, Andreas, Czech, Artur, Gangfuss, Andrea, Mohassel, Payam, Nguyen, Chi, Stenzel, Werner, Schara-Schmidt, Ulrike, Preuße, Corinna, Roos, Andreas
Publicado 2022

EphrinA5 regulates cell motility by modulating Snhg15/DNA triplex-dependent targeting of DNMT1 to the Ncam1 promoter

por Yildiz, Can Bora, Kundu, Tathagata, Gehrmann, Julia, Koesling, Jannis, Ravaei, Amin, Wolff, Philip, Kraft, Florian, Maié, Tiago, Jakovcevski, Mira, Pensold, Daniel, Zimmermann, Olav, Rossetti, Giulia, Costa, Ivan G., Zimmer-Bensch, Geraldine
Publicado 2023

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

por Bilo, Larissa, Ochoa, Eguzkine, Lee, Sunwoo, Dey, Daniela, Kurth, Ingo, Kraft, Florian, Rodger, Fay, Docquier, France, Toribio, Ana, Bottolo, Leonardo, Binder, Gerhard, Fekete, György, Elbracht, Miriam, Maher, Eamonn R., Begemann, Matthias, Eggermann, Thomas
Publicado 2023

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

por Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H. M., Brett, Maggie, Mochida, Ganeshwaran H., DiTroia, Stephanie, Pais, Lynn, Neil, Jennifer E., Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A., Kurth, Ingo, Knopp, Cordula
Publicado 2021

Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI

por Gaebler, Arnim J., Fakour, Nilüfer, Stöhr, Felix, Zweerings, Jana, Taebi, Arezoo, Suslova, Mariia, Dukart, Juergen, Hipp, Joerg F., Adhikari, Bhim M., Kochunov, Peter, Muthukumaraswamy, Suresh D., Forsyth, Anna, Eggermann, Thomas, Kraft, Florian, Kurth, Ingo, Paulzen, Michael, Gründer, Gerhard, Schneider, Frank, Mathiak, Klaus
Publicado 2023

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

por 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
Publicado 2020

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

por Kleinle, Stephanie, Scholz, Veronika, Benet-Pagés, Anna, Wohlfrom, Tobias, Gehling, Stefanie, Scharf, Florentine, Rost, Simone, Prott, Eva-Christina, Grinzinger, Susanne, Hotter, Anna, Haug, Verena, Niemeier, Sabine, Wiethoff-Ubrig, Lucia, Hagenacker, Tim, Goldhahn, Klaus, von Moers, Arpad, Walter, Maggie C., Reilich, Peter, Eggermann, Katja, Kraft, Florian, Kurth, Ingo, Erdmann, Hannes, Holinski-Feder, Elke, Neuhann, Teresa, Abicht, Angela
Publicado 2023

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

por 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
Publicado 2020

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

por Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., Depienne, Christel
Publicado 2019

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

por Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Romero Sánchez, Juan, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Marques, Wilson, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M, Nampoothiri, Sheela, Rodovalho Doriqui, Maria J, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo
Publicado 2023