Ngā hua rapu - Courtin, Thomas

Monogenic PD in Brazil: a step towards precision medicine mā Courtin, Thomas, Brice, Alexis

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Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders mā Zhang, David, Guelfi, Sebastian, Garcia-Ruiz, Sonia, Costa, Beatrice, Reynolds, Regina H., D’Sa, Karishma, Liu, Wenfei, Courtin, Thomas, Peterson, Amy, Jaffe, Andrew E., Hardy, John, Botía, Juan A., Collado-Torres, Leonardo, Ryten, Mina

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Characterization of Recessive Parkinson Disease in a Large Multicenter Study mā Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature mā Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy mā Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases mā 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

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome mā Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism mā 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.

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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum mā Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido

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