Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
Mochel, Fanny, Rastetter, Agnès, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N, Helbig, Katherine L, Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S, Huisman, Sylvia A, Wilson, Golder N, Cathey, Sara S, Louie, Raymond J, Gaudio, Daniela Del, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M, Roeder, Elizabeth R, Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Kaiser, Frank J, Kamphausen, Susanne B, Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, Depienne, Christel
Published in Brain (London, England : 1878) (01.12.2020)
Published in Brain (London, England : 1878) (01.12.2020)
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Identifying facial phenotypes of genetic disorders using deep learning
Gurovich, Yaron, Hanani, Yair, Bar, Omri, Nadav, Guy, Fleischer, Nicole, Gelbman, Dekel, Basel-Salmon, Lina, Krawitz, Peter M., Kamphausen, Susanne B., Zenker, Martin, Bird, Lynne M., Gripp, Karen W.
Published in Nature medicine (01.01.2019)
Published in Nature medicine (01.01.2019)
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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy
Wengert, Eric R., Tronhjem, Cathrine E., Wagnon, Jacy L., Johannesen, Katrine M., Petit, Hayley, Krey, Ilona, Saga, Anusha U., Panchal, Payal S., Strohm, Samantha M., Lange, Jörn, Kamphausen, Susanne B., Rubboli, Guido, Lemke, Johannes R., Gardella, Elena, Patel, Manoj K., Meisler, Miriam H., Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.11.2019)
Published in Epilepsia (Copenhagen) (01.11.2019)
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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Küry, Sébastien, Stanton, Janelle E, van Woerden, Geeske, Hsieh, Tzung-Chien, Rosenfelt, Cory, Scott-Boyer, Marie Pier, Most, Victoria, Wang, Tianyun, Papendorf, Jonas Johannes, de Konink, Charlotte, Deb, Wallid, Vignard, Virginie, Studencka-Turski, Maja, Besnard, Thomas, Hajdukowicz, Anna Marta, Thiel, Franziska, Möller, Sophie, Florenceau, Laëtitia, Cuinat, Silvestre, Marsac, Sylvain, Wentzensen, Ingrid, Tuttle, Annabelle, Forster, Cara, Striesow, Johanna, Golnik, Richard, Ortiz, Damara, Jenkins, Laura, Rosenfeld, Jill A, Ziegler, Alban, Houdayer, Clara, Bonneau, Dominique, Torti, Erin, Begtrup, Amber, Monaghan, Kristin G, Mullegama, Sureni V, Volker-Touw, C M L Nienke, van Gassen, Koen L I, Oegema, Renske, de Pagter, Mirjam, Steindl, Katharina, Rauch, Anita, Ivanovski, Ivan, McDonald, Kimberly, Boothe, Emily, Dauber, Andrew, Baker, Janice, Fabie, Noelle Andrea V, Bernier, Raphael A, Turner, Tychele N, Srivastava, Siddharth, Dies, Kira A, Swanson, Lindsay, Costin, Carrie, Jobling, Rebekah K, Pappas, John, Rabin, Rachel, Niyazov, Dmitriy, Tsai, Anne Chun-Hui, Kovak, Karen, Beck, David B, Malicdan, McV, Adams, David R, Wolfe, Lynne, Ganetzky, Rebecca D, Muraresku, Colleen, Babikyan, Davit, Sedláček, Zdeněk, Hančárová, Miroslava, Timberlake, Andrew T, Al Saif, Hind, Nestler, Berkley, King, Kayla, Hajianpour, M J, Costain, Gregory, Prendergast, D'Arcy, Li, Chumei, Geneviève, David, Vitobello, Antonio, Sorlin, Arthur, Philippe, Christophe, Harel, Tamar, Toker, Ori, Sabir, Ataf, Lim, Derek, Hamilton, Mark, Bryson, Lisa, Cleary, Elaine, Weber, Sacha, Hoffman, Trevor L, Cueto-González, Anna Maria, Tizzano, Eduardo Fidel, Gómez-Andrés, David, Codina-Solà, Marta, Ververi, Athina, Pavlidou, Efterpi, Lambropoulos, Alexandros, Garganis, Kyriakos, Rio, Marlène, Levy, Jonathan, Jurgensmeyer, Sarah
Published in medRxiv : the preprint server for health sciences (26.01.2024)
Published in medRxiv : the preprint server for health sciences (26.01.2024)
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DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning
Gurovich, Yaron, Hanani, Yair, Bar, Omri, Fleischer, Nicole, Gelbman, Dekel, Basel-Salmon, Lina, Krawitz, Peter, Kamphausen, Susanne B, Zenker, Martin, Bird, Lynne M, Gripp, Karen W
Year of Publication 23.01.2018
Year of Publication 23.01.2018
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Journal Article
DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning
Gurovich, Yaron, Hanani, Yair, Bar, Omri, Fleischer, Nicole, Dekel Gelbman, Basel-Salmon, Lina, Krawitz, Peter, Kamphausen, Susanne B, Zenker, Martin, Bird, Lynne M, Gripp, Karen W
Published in arXiv.org (23.01.2018)
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Published in arXiv.org (23.01.2018)
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Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
Buttner, Benjamin, Martin, Sonja, Finck, Anja, Arelin, Maria, Baade-Buttner, Carolin, Bartolomaeus, Tobias, Bauer, Peter, Bertsche, Astrid, Bernhard, Matthias K, Biskup, Saskia, Nataliya Di Donato, Elgizouli, Magdeldin, Ewald, Roland, Heine, Constanze, Hellenbroich, Yorck, Hentschel, Julia, Hoffjan, Sabine, Horn, Susanne, Hornemann, Frauke, Huhle, Dagmar, Kamphausen, Susanne B, Kiess, Wieland, Krey, Ilona, Kuechler, Alma, Liesfeld, Ben, Merkenschlager, Andreas, Mitter, Diana, Muschke, Petra, Pfaffle, Roland, Polster, Tilman, Schanze, Ina, Jan-Ulrich Schlump, Syrbe, Steffen, Wieczorek, Dagmar, Zenker, Martin, Lemke, Johannes R, Diana Le Duc, Platzer, Konrad, Rami Abou Jamra
Published in bioRxiv (26.03.2019)
Published in bioRxiv (26.03.2019)
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