GRIN2A mutations cause epilepsy-aphasia spectrum disorders

by Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O’Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C
Published 2013

Epileptic spasms are a feature of DEPDC5 mTORopathy

by Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Mullen, Saul A., Berkovic, Samuel F., Sullivan, Joseph, Scheffer, Ingrid E., Mefford, Heather C.
Published 2015

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

by Paemka, Lily, Mahajan, Vinit B., Ehaideb, Salleh N., Skeie, Jessica M., Tan, Men Chee, Wu, Shu, Cox, Allison J., Sowers, Levi P., Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J., Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather C., El-Shanti, Hatem, Wood, Stephen A., Manak, J. Robert, Bassuk, Alexander G.
Published 2015

PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders

by Paemka, Lily, Mahajan, Vinit B., Skeie, Jessica M., Sowers, Levi P., Ehaideb, Salleh N., Gonzalez-Alegre, Pedro, Sasaoka, Toshikuni, Tao, Hirotaka, Miyagi, Asuka, Ueno, Naoto, Takao, Keizo, Miyakawa, Tsuyoshi, Wu, Shu, Darbro, Benjamin W., Ferguson, Polly J., Pieper, Andrew A., Britt, Jeremiah K., Wemmie, John A., Rudd, Danielle S., Wassink, Thomas, El-Shanti, Hatem, Mefford, Heather C., Carvill, Gemma L., Manak, J. Robert, Bassuk, Alexander G.
Published 2013

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

by Martin, Hilary C., Kim, Grace E., Pagnamenta, Alistair T., Murakami, Yoshiko, Carvill, Gemma L., Meyer, Esther, Copley, Richard R., Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R., Kronengold, Jack, Brown, Maile R., Hudspith, Karl A., Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C., Shears, Deborah, Stewart, Helen, Kurian, Manju A., Scheffer, Ingrid E., Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K., Taylor, Jenny C.
Published 2014

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

by Carvill, Gemma L., Heavin, Sinéad B., Yendle, Simone C., McMahon, Jacinta M., O’Roak, Brian J., Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M. E., Bleasel, Andrew, Howell, Katherine B., Kivity, Sara, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S., Gill, Deepak, Andrade, Danielle M., Freeman, Jeremy L., Sadleir, Lynette G., Shendure, Jay, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Published 2013

Refining analyses of copy number variation identifies specific genes associated with developmental delay

by Coe, Bradley P., Witherspoon, Kali, Rosenfeld, Jill A., van Bon, Bregje W.M., Vulto-van Silfhout, Anneke T., Bosco, Paolo, Friend, Kathryn L., Baker, Carl, Buono, Serafino, Vissers, Lisenka E.L.M., Schuurs-Hoeijmakers, Janneke H., Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L., Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J., Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R.F., Torchia, Beth S., Peeters, Hilde, O'Roak, Brian J., Fichera, Marco, Hehir-Kwa, Jayne Y., Shendure, Jay, Mefford, Heather C., Haan, Eric, Gécz, Jozef, de Vries, Bert B.A., Romano, Corrado, Eichler, Evan E.
Published 2014

Pitfalls in genetic testing: the story of missed SCN1A mutations

by Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Published 2016