5 results on '"Holthöfer, Laura"'
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2. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
- Author
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Bosch, Elisabeth, primary, Popp, Bernt, additional, Güse, Esther, additional, Skinner, Cindy, additional, van der Sluijs, Pleuntje J., additional, Maystadt, Isabelle, additional, Pinto, Anna Maria, additional, Renieri, Alessandra, additional, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Marcelis, Carlo, additional, Baysal, Özlem, additional, Hartwich, Dewi, additional, Holthöfer, Laura, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Wieczorek, Dagmar, additional, Capra, Valeria, additional, Scala, Marcello, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Abou Jamra, Rami, additional, Platzer, Konrad, additional, Carter, Lauren B., additional, Kuismin, Outi, additional, van Haeringen, Arie, additional, Maroofian, Reza, additional, Valenzuela, Irene, additional, Cuscó, Ivon, additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, Mefford, Heather C., additional, Pereira, Elaine M., additional, Close, Charlotte, additional, Anyane-Yeboa, Kwame, additional, Wagner, Mallory, additional, Hannibal, Mark C., additional, Zacher, Pia, additional, Thiffault, Isabelle, additional, Beunders, Gea, additional, Umair, Muhammad, additional, Bhola, Priya T., additional, McGinnis, Erin, additional, Millichap, John, additional, van de Kamp, Jiddeke M., additional, Prijoles, Eloise J., additional, Dobson, Amy, additional, Shillington, Amelle, additional, Graham, Brett H., additional, Garcia, Evan-Jacob, additional, Kelly Galindo, Maureen, additional, Ropers, Fabienne G., additional, Nibbeling, Esther AR., additional, Hubbard, Gail, additional, Karimov, Catherine, additional, Goj, Guido, additional, Bend, Renee, additional, Rath, Julie, additional, Morrow, Michelle M., additional, Millan, Francisca, additional, Salpietro, Vincenzo, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Kurki, Mitja, additional, Stevenson, Roger E., additional, Santen, Gijs W.E., additional, Zweier, Markus, additional, Campeau, Philippe M., additional, Severino, Mariasavina, additional, Reis, André, additional, Accogli, Andrea, additional, and Vasileiou, Georgia, additional
- Published
- 2023
- Full Text
- View/download PDF
3. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
- Author
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Bosch, Elisabeth; https://orcid.org/0000-0002-4952-2016, Popp, Bernt; https://orcid.org/0000-0002-3679-1081, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J; https://orcid.org/0000-0002-1174-2806, Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogné, Benjamin; https://orcid.org/0000-0002-5503-6292, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Abou Jamra, Rami; https://orcid.org/0000-0002-1542-1399, Platzer, Konrad, Carter, Lauren B, Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza; https://orcid.org/0000-0001-6763-1542, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A, et al, Zweier, Markus; https://orcid.org/0000-0001-8290-0413, Bosch, Elisabeth; https://orcid.org/0000-0002-4952-2016, Popp, Bernt; https://orcid.org/0000-0002-3679-1081, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J; https://orcid.org/0000-0002-1174-2806, Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogné, Benjamin; https://orcid.org/0000-0002-5503-6292, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Abou Jamra, Rami; https://orcid.org/0000-0002-1542-1399, Platzer, Konrad, Carter, Lauren B, Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza; https://orcid.org/0000-0001-6763-1542, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A, et al, and Zweier, Markus; https://orcid.org/0000-0001-8290-0413
- Abstract
Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort. Methods: Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlation, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays. Results: Neurodevelopmental delay with intellectual disability, muscular hypotonia and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare. Clinical presentation differed significantly, with LGD variants being predominantly inherited and associated with mildly reduced or normal cognitive development, while non-truncating variants were mostly de novo and presented with severe developmental delay. These distinct manifestations and non-truncating variant clustering in functional domains suggest different pathomechanisms. In vitro testing showed decreased protein expression for N-terminal missense variants similar to LGD. Conclusion: This study improved SMARCC2 variant classification and identified discernible SMARCC2-associated phenotypes for LGD and non-truncating variants, which were distinct from other BAFopathies. The pathomechanism of most non-truncating variants has yet to be investigated.
- Published
- 2023
4. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals
- Author
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Bosch, Elisabeth, primary, Popp, Bernt, additional, Güse, Esther, additional, Skinner, Cindy, additional, van der Sluijs, Pleuntje J., additional, Maystadt, Isabelle, additional, Pinto, Anna Maria, additional, Renieri, Alessandra, additional, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Marcelis, Carlo, additional, Baysal, Özlem, additional, Hartwich, Dewi, additional, Holthöfer, Laura, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Wieczorek, Dagmar, additional, Capra, Valeria, additional, Scala, Marcello, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Jamra, Rami Abou, additional, Platzer, Konrad, additional, Carter, Lauren B., additional, Kuismin, Outi, additional, van Haeringen, Arie, additional, Maroofian, Reza, additional, Valenzuela, Irene, additional, Cuscò, Ivon, additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, Mefford, Heather C., additional, Pereira, Elaine M., additional, Close, Charlotte, additional, Anyane-Yeboa, Kwame, additional, Wagner, Mallory, additional, Hannibal, Mark C., additional, Zacher, Pia, additional, Thiffault, Isabelle, additional, Beunders, Gea, additional, Umair, Muhammad, additional, Bhola, Priya T., additional, McGinnis, Erin, additional, Millichap, John, additional, van de Kamp, Jiddeke M, additional, Prijoles, Eloise J., additional, Dobson, Amy, additional, Shillington, Amelle, additional, Graham, Brett H., additional, Garcia, Evan-Jacob, additional, Galindo, Maureen Kelly, additional, Ropers, Fabienne G., additional, Nibbeling, Esther AR, additional, Hubbard, Gail, additional, Karimov, Catherine, additional, Goj, Guido, additional, Bend, Renee, additional, Rath, Julie, additional, Morrow, Michelle M, additional, Millan, Francisca, additional, Salpietro, Vincenzo, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Kurki, Mitja, additional, Stevenson, Roger E, additional, Santen, Gijs W.E., additional, Zweier, Markus, additional, Campeau, Philippe M., additional, Severino, Mariasavina, additional, Reis, André, additional, Accogli, Andrea, additional, and Vasileiou, Georgia, additional
- Published
- 2023
- Full Text
- View/download PDF
5. Dual Guidance Structure for Evaluation of Patients with Unclear Diagnosis in Centers for Rare Diseases (ZSE-DUO): Study Protocol for a Controlled Multi-center Cohort Study
- Author
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Helge, Hebestreit, Cornelia, Zeidler, Christopher, Schippers, Martina, de Zwaan, Jürgen, Deckert, Peter, Heuschmann, Christian, Krauth, Monika, Bullinger, Alexandra, Berger, Mark, Berneburg, Lilly, Brandstetter, Anna, Deibele, Jan, Dieris-Hirche, Holm, Graessner, Harald, Gündel, Stephan, Herpertz, Gereon, Heuft, Anne-Marie, Lapstich, Thomas, Lücke, Tim, Maisch, Christine, Mundlos, Andrea, Petermann-Meyer, Susanne, Müller, Stephan, Ott, Lisa, Pfister, Julia, Quitmann, Marcel, Romanos, Frank, Rutsch, Kristina, Schaubert, Katharina, Schubert, Jörg B, Schulz, Susann, Schweiger, Oliver, Tüscher, Kathrin, Ungethüm, Thomas O F, Wagner, Kirsten, Haas, Stephan, Zipfel, Rampp, Carina, Richter, Antonia, Rieß, Olaf, Schmidt, Annika, Schneider, Simone, Schoels, Ludger, Schwalba, Martina, Selig, Udo, Spangenberger, Astrid, Sroka, Alexandra, Steinbüchel, Toni, Stösser, Sebastian, Suchant, Steffi, Vogel, Matthias, Volk, Daniela, Vollmuth, Christoph, Volnov, Solange, Walter, Sabrina, Warrings, Bodo, Weiler, Christine, Witt, Stefanie, Zajt, Kamil Kajetan, Zeltner, Lena, Zenker, Karola, Zhang, Kailun David, Zipfel, Stephan, Akkaya, Federica, Babka, Christine, Bârlescu, Lavinia, Bärsch-Michelmann, Anja, Bergbreiter, Astrid, Blömeke, Janika, Böhm, Leonie, Böttger, Benita, Braun, Birgit, Brinkmann, Folke, Britz, Vanessa, Cario, Holger, Celiker, Melisa, de Greck, Moritz, Debatin, Klaus-Michael, Dillmann-Jehn, Katrin, Ertl, Max, Ettinger, Monika, Eymann, Jutta, Frommer, Jörg, Gabrian, Martina, Glode, Anja, Gödecke, Vega, Grasemann, Corinna, Grauer, Eva, Greger, Helmut, Haas, Astrid, Haase, Martina, Haisch, Lea, Heinrich, Isabel, Held, Melissa, Hennermann, Julia, Herrmann-Werner, Anne, Hett, Julian, Hilbig, Bettina, Holthöfer, Laura, Imhof, Christiane, Jacob, Titus, Junne, Florian, Karl, Stefanie, Kassubek, Jan, Kick, Lisa, Koschitzki, Kevin-Thomas, Krassort, Heike, Kratz, Christian, Kristensen, Kaja, Kropff, Birgit, Kuhn, Julia, Latzko, Philipp, Loew, Thomas, Lorenz, Delia, Ludolph, Albert C., Dos Santos, Isabell Meyer, Meyer, Torsten, Mohnike, Klaus, Monninger, Martina, Musacchio, Thomas, Nanciu, Amalia Nicole, Nießen, Margret, Nöhre, Mariell, Papagianni, Aikaterini, Pfeifer-Duck, Christina, and Piduhn, Lea-Sophie
- Subjects
Protocol (science) ,medicine.medical_specialty ,ddc:618 ,business.industry ,General Medicine ,DUAL (cognitive architecture) ,Cohort Studies ,Diagnosis, Differential ,Rare Diseases ,Treatment Outcome ,Quality of Life ,Humans ,Multicenter Studies as Topic ,Medicine ,Pharmacology (medical) ,Medical physics ,Center (algebra and category theory) ,Prospective Studies ,Child ,business ,Genetics (clinical) ,Cohort study - Abstract
Orphanet journal of rare diseases : OJRD 17(1), 47 (2022). doi:10.1186/s13023-022-02176-1, Published by BioMed Central, London
- Published
- 2021
- Full Text
- View/download PDF
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