A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review
Maria Christina Schwaibold, Eva, Zoll, Barbara, Burfeind, Peter, Hobbiebrunken, Elke, Wilken, Bernd, Funke, Rudolf, Shoukier, Moneef
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
Trio exome sequencing is highly relevant in prenatal diagnostics
Gabriel, Heinz, Korinth, Dirk, Ritthaler, Martin, Schulte, Björn, Battke, Florian, Kaisenberg, Constantin, Wüstemann, Max, Schulze, Bernt, Friedrich‐Freksa, Almuth, Pfeiffer, Lutz, Entezami, Michael, Schröer, Andreas, Bürger, Joachim, Schwaibold, Eva Maria Christina, Lebek, Holger, Biskup, Saskia
Published in Prenatal diagnosis (01.06.2022)
Published in Prenatal diagnosis (01.06.2022)
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Journal Article
The genomic and clinical landscape of fetal akinesia
Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
Correction: The genomic and clinical landscape of fetal akinesia
Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Journal Article
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder
Brugger, Melanie, Brunet, Theresa, Wagner, Matias, Orec, Laura Elena, Schwaibold, Eva Maria Christina, Boy, Nikolas
Published in Gene (05.02.2021)
Published in Gene (05.02.2021)
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Journal Article
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Mirza-Schreiber, Nazanin, Zech, Michael, Wilson, Rory, Brunet, Theresa, Wagner, Matias, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Necpál, Ján, Weise, David, Weber, Sandrina, Mollenhauer, Brit, Trenkwalder, Claudia, Maier, Esther M, Borggraefe, Ingo, Vill, Katharina, Hackenberg, Annette, Pilshofer, Veronika, Kotzaeridou, Urania, Schwaibold, Eva Maria Christina, Hoefele, Julia, Waldenberger, Melanie, Gieger, Christian, Peters, Annette, Meitinger, Thomas, Schormair, Barbara, Winkelmann, Juliane, Oexle, Konrad
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
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Journal Article
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya
Published in Cell reports (Cambridge) (15.03.2022)
Published in Cell reports (Cambridge) (15.03.2022)
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Journal Article
PIGN encephalopathy: Characterizing the epileptology
Bayat, Allan, Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela‐Stanek, Aleksandra, Jouk, Pierre‐Simon, Keren, Boris, Kloth, Katja, Kluger, Gerhard, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos‐Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P. A., Stumpel, Constance T., Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.
Published in Epilepsia (Copenhagen) (01.04.2022)
Published in Epilepsia (Copenhagen) (01.04.2022)
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Journal Article
The genomic and clinical landscape of fetalakinesia
Pergande Matthias, Motameny Susanne, Özdemir Özkan, Kreutzer Mona, Wang Haicui, Hülya-Sevcan, Daimagüler, Becker, Kerstin, Karakaya Mert, Ehrhardt Harald, Elcioglu Nursel, Ostojic Slavica, Cho-Ming, Chao, Kawalia Amit, Duman Özgür, Koy, Anne, Hahn, Andreas, Reimann Jens, Schoner Katharina, Schänzer Anne, Westhoff, Jens H, Schwaibold Eva Maria Christina, Cossee Mireille, Imbert-Bouteille Marion, von Pein Harald, Haliloglu Göknur, Topaloglu Haluk, Altmüller Janine, Nürnberg, Peter, Thiele Holger, Heller, Raoul, Cirak Sebahattin
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Carstens, Per-Ole, Schwaibold, Eva Maria Christina, Schregel, Katharina, Obermaier, Carolin D, Wrede, Arne, Zechel, Sabrina, Pauli, Silke, Schmidt, Jens
Published in Neurology. Genetics (01.06.2019)
Published in Neurology. Genetics (01.06.2019)
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Journal Article
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Schwaibold, Eva Maria Christina, Smogavec, Mateja, Hobbiebrunken, Elke, Winter, Lorenz, Zoll, Barbara, Burfeind, Peter, Brockmann, Knut, Pauli, Silke
Published in Molecular cytogenetics (23.10.2014)
Published in Molecular cytogenetics (23.10.2014)
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Journal Article
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders
Ni, Chunyang, Yu, Leqian, Vona, Barbara, Park, Dayea, Wei, Yulei, Schmitz, Daniel A, Wei, Yudong, Ding, Yi, Sakurai, Masahiro, Ballard, Emily, Liu, Yan, Kumar, Ashwani, Xing, Chao, Kim, Hyung-Goo, Ekmekci, Cumhur, Karimiani, Ehsan Ghayoor, Imannezhad, Shima, Eghbal, Fatemeh, Badv, Reza Shervin, Schwaibold, Eva Maria Christina, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Metanat, Zahra, Eslamiyeh, Hosein, Khouj, Ebtissal, Alhajj, Saleh Mohammed Nasser, Chedrawi, Aziza, Alves, César Augusto Pinheiro Ferreira, Houlden, Henry, Kruer, Michael, Alkuraya, Fowzan S, Cenik, Can, Maroofian, Reza, Wu, Jun, Buszczak, Michael
Published in bioRxiv : the preprint server for biology (09.01.2024)
Published in bioRxiv : the preprint server for biology (09.01.2024)
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Journal Article
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
Marcogliese, Paul C, Deal, Samantha L, Andrews, Jonathan, Harnish, J Michael, Bhavana, V Hemanjani, Graves, Hillary K, Jangam, Sharayu, Luo, Xi, Liu, Ning, Danqing Bei, Yu-Hsin, Chao, Hull, Brooke, Pei-Tseng, Lee, Pan, Hongling, Longley, Colleen M, Hsiao-Tuan Chao, Chung, Hyunglok, Haelterman, Nele A, Kanca, Oguz, Manivannan, Sathiya N, Rossetti, Linda Z, Gerard, Amanda, Eva Maria Christina Schwaibold, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N, Barakat, Tahsin Stefan, Van Dooren, Marieke F, Wilke, Martina, Marjon Van Slegtenhorst, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A, Madden, Jill A, Agrawal, Pankaj B, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A, Marom, Ronit, Wangler, Michael F, Yamamoto, Shinya
Published in bioRxiv (01.02.2021)
Published in bioRxiv (01.02.2021)
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