Not logged inSUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Lee, Eunhye; Sim, Seungmin; Choi, Hee-Jung; Liang, Eugene Y.; Le, Carolyn; Bina, Roya; Cohen, Ryan; George, Elizabeth; Kim, Soo Yeon; Bhat, Gifty; Falsey, Erin; Sidlow, Richard; Clinard, Kristin; Ben-Shachar, Shay; England, Eleina; Menendez, Beatriz; Herman, Isabella; Nielsen, Shelly; Punetha, Jaya; Bhola, Priya; Hamm, J. Austin; Keeney, Megan A.; Sitzman, Nike; Berger, Sara; Mehta, Lakshmi; Conn, Alison J.; Downie, Lilian; Ashfaq, Myla; Northrup, Hope; Bruel, Ange-Line; Odent, Sylvie; Szot, Justin O.; Martinez, Noelia Nunez; Park, Sunju; Refkin, Julie; Good, Jean-Marc; Maurer, Fabienne; Le Caignec, Cedric; Coman, David J.; Anderson, Erin; Richards, Linda J.; Dean, Ryan J.; Yang, Caleb; Choi, Chulwon; Hwang, Byung Joon; Lee, Jin Sook; Dobyns, William B.; Choi, Murim; Sherr, Elliott H.; Chae, Jong-Hee; Kee, Yun; Argilli, Emanuela .png)
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SaveBi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsGuillouet, Charlotte; Agostini, Valeria; Baujat, Genevieve; Cocciadiferro, Dario; Pippucci, Tommaso; Lesieur-Sebellin, Marion; Georget, Mathieu; Schatz, Ulrich; Fauth, Christine; Louie, Raymond J.; Rogers, Curtis; Davis, Jessica M.; Konstantopoulou, Vassiliki; Mayr, Johannes A.; Bouman, Arjan; Wilke, Martina; VanNoy, Grace E.; England, Eleina M.; Park, Kristen L.; Brown, Kathleen; Saenz, Margarita; Novelli, Antonio; Digilio, Maria Cristina; Mastromoro, Gioia; Rongioletti, Mauro Ciro Antonio; Piacentini, Gerardo; Kaiyrzhanov, Rauan; Guliyeva, Sughra; Hasanova, Lala; Shears, Deborah; Bhatnagar, Ishita; Stals, Karen; Klaas, Oliver; Horvath, Judit; Bouvagnet, Patrice; Witmer, P. Dane; MacCarrick, Gretchen; Cisarova, Katarina; Good, Jean-Marc; Gorokhova, Svetlana; Boute, Odile; Smol, Thomas; Bruel, Ange-Line; Patat, Olivier; Broadbent, Julia R.; Tan, Tiong Y.; Tan, Natalie B.; Lyonnet, Stanislas; Busa, Tiffany; Graziano, Claudio; Amiel, Jeanne; Gordon, Christopher T. Share Save The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDQebibo, Leila; Davakan, Amael; Nesson-Dauphin, Mathilde; Boulali, Najlae; Siquier-Pernet, Karine; Afenjar, Alexandra; Amiel, Jeanne; Bartholdi, Deborah; Barth, Magalie; Blondiaux, Eleonore; Cristian, Ingrid; Frazier, Zoe; Goldenberg, Alice; Good, Jean-Marc; Salussolia, Catherine Lourdes; Sahin, Mustafa; McCullagh, Helen; McDonald, Kimberly; McRae, Anne; Morrison, Jennifer; Pinner, Jason; Shinawi, Marwan; Toutain, Annick; Vyhnalkova, Emilie; Wheeler, Patricia G.; Wilnai, Yael; Hausman-Kedem, Moran; Coolen, Marion; Cantagrel, Vincent; Burglen, Lydie; Lory, Philippe Share Save L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatasePollegioni, Loredano; Campanini, Barbara; Good, Jean-Marc; Motta, Zoraide; Murtas, Giulia; Buoli Comani, Valeria; Pavlidou, Despina-Christina; Mercier, Noelle; Mittaz-Crettol, Laureane; Sacchi, Silvia; Marchesani, Francesco Share Save Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseCurro, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Deforie, Valentina Galassi; Fernandez-Eulate, Gorka; Traschuetz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H.; Schnekenberg, Ricardo Parolin; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; de Munain, Adolfo Lopez; Manganelli, Fiore; Kennerson, Marina; Santorelli, Filippo Maria; Infante, Jon; Marques, Wilson; Jokela, Manu; Murphy, Sinead M.; Mandich, Paola; Fabrizi, Gian Maria; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, James; Troakkes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthis; Stojkovic, Tanya; Hadjivassiliou, Marios; Reilly, Mary M.; Houlden, Henry; Cortese, Andrea Share Save De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusGalosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo Share Save 
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