Advancing epilepsy genetics in the genomic era

por Myers, Candace T., Mefford, Heather C.
Publicado 2015

Prospective functional outcomes in sequential population based cohorts of stage III/ IV oropharyngeal carcinoma patients treated with 3D conformal vs. intensity modulated radiother...

por Kerr, Paul, Myers, Candace L, Butler, James, Alessa, Mohamed, Lambert, Pascal, Cooke, Andrew L
Publicado 2015

Longitudinal functional outcomes and late effects of radiation following treatment of nasopharyngeal carcinoma: secondary analysis of a prospective cohort study

por Gill, Gia, Lane, Ciaran, Myers, Candace, Kerr, Evan D., Lambert, Pascal, Cooke, Andrew, Kerr, Paul D.
Publicado 2022

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

por Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn
Publicado 2020

Cyclic Nucleotide Gated Channels 7 and 8 Are Essential for Male Reproductive Fertility

por Tunc-Ozdemir, Meral, Rato, Claudia, Brown, Elizabeth, Rogers, Stephanie, Mooneyham, Amanda, Frietsch, Sabine, Myers, Candace T., Poulsen, Lisbeth Rosager, Malhó, Rui, Harper, Jeffrey F.
Publicado 2013

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

por Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn
Publicado 2020

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

por Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R., Carvill, Gemma, Myers, Candace T., Mefford, Heather C., Scheffer, Ingrid E.
Publicado 2017

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

por Cowley, Mark J, Liu, Yu‐Chi, Oliver, Karen L., Carvill, Gemma, Myers, Candace T., Gayevskiy, Velimir, Delatycki, Martin, Vlaskamp, Danique R.M., Zhu, Ying, Mefford, Heather, Buckley, Michael F., Bahlo, Melanie, Scheffer, Ingrid E., Dinger, Marcel E., Roscioli, Tony
Publicado 2019

Somatic activating BRAF variants cause isolated lymphatic malformations

por Zenner, Kaitlyn, Jensen, Dana M., Dmyterko, Victoria, Shivaram, Giridhar M., Myers, Candace T., Paschal, Cate R., Rudzinski, Erin R., Pham, Minh-Hang M., Cheng, V. Chi, Manning, Scott C., Bly, Randall A., Ganti, Sheila, Perkins, Jonathan A., Bennett, James T.
Publicado 2022

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

por Dejanovic, Borislav, Djémié, Tania, Grünewald, Nora, Suls, Arvid, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig, Lal, Dennis, Myers, Candace T, Mefford, Heather C, Palotie, Aarno, Helbig, Ingo, Meier, Jochen C, De Jonghe, Peter, Weckhuysen, Sarah, Schwarz, Guenter
Publicado 2015

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

por Dejanovic, Borislav, Djémié, Tania, Grünewald, Nora, Suls, Arvid, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig, Lal, Dennis, Myers, Candace T, Mefford, Heather C, Palotie, Aarno, Helbig, Ingo, Meier, Jochen C, De Jonghe, Peter, Weckhuysen, Sarah, Schwarz, Guenter
Publicado 2017

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

por Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Marconi, Caterina, De Luise, Monica, Myers, Candace, Nardi, Elena, Provini, Federica, Cameli, Cinzia, Minardi, Raffaella, Bacchelli, Elena, Giordano, Lucio, Crichiutti, Giovanni, d'Orsi, Giuseppe, Seri, Marco, Gasparre, Giuseppe, Mefford, Heather C., Tinuper, Paolo, Bisulli, Francesca
Publicado 2019

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

por Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M. Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.
Publicado 2018

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

por Vlaskamp, Danique R.M., Shaw, Benjamin J., Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T., Bennett, Mark F., XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M., Brooks, Alice S., Mancini, Grazia M.S., van de Laar, Ingrid M.B.H., van Hagen, Johanna M., Ware, Tyson L., Webster, Richard I., Malone, Stephen, Berkovic, Samuel F., Kalnins, Renate M., Sicca, Federico, Korenke, G. Christoph, van Ravenswaaij-Arts, Conny M.A., Hildebrand, Michael S., Mefford, Heather C., Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E.
Publicado 2019

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

por de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Publicado 2016

Pitfalls in genetic testing: the story of missed SCN1A mutations

por 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
Publicado 2016

CHD2 variants are a risk factor for photosensitivity in epilepsy

por Galizia, Elizabeth C., Myers, Candace T., Leu, Costin, de Kovel, Carolien G. F., Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G., Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V., Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S., Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L., Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G., Mullen, Saul A., Berkovic, Samuel F., Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D., Esguerra, Camila V., Kasteleijn-Nolst Trenité, Dorothee G. A., Koeleman, Bobby P. C., Mefford, Heather C., Scheffer, Ingrid E., Sisodiya, Sanjay M.
Publicado 2015

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

por Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Publicado 2019