Using familial information for variant filtering in high-throughput sequencing studies

Por Bahlo, Melanie, Tankard, Rick, Lukic, Vesna, Oliver, Karen L., Smith, Katherine R.
Publicado em 2014

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

Por Oliver, Karen L., Lukic, Vesna, Freytag, Saskia, Scheffer, Ingrid E., Berkovic, Samuel F., Bahlo, Melanie
Publicado no Neurol Genet (2016)

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Por Oliver, Karen L., Lukic, Vesna, Thorne, Natalie P., Berkovic, Samuel F., Scheffer, Ingrid E., Bahlo, Melanie
Publicado em 2014

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl(−) extrusion and dendritic spine formation

Por Puskarjov, Martin, Seja, Patricia, Heron, Sarah E, Williams, Tristiana C, Ahmad, Faraz, Iona, Xenia, Oliver, Karen L, Grinton, Bronwyn E, Vutskits, Laszlo, Scheffer, Ingrid E, Petrou, Steven, Blaesse, Peter, Dibbens, Leanne M, Berkovic, Samuel F, Kaila, Kai
Publicado em 2014

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Por Corbett, Mark A., Bahlo, Melanie, Jolly, Lachlan, Afawi, Zaid, Gardner, Alison E., Oliver, Karen L., Tan, Stanley, Coffey, Amy, Mulley, John C., Dibbens, Leanne M., Simri, Walid, Shalata, Adel, Kivity, Sara, Jackson, Graeme D., Berkovic, Samuel F., Gecz, Jozef
Publicado em 2010

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Por Berkovic, Samuel F., Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux-Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E.
Publicado no Neurology (2016)

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Por Afawi, Zaid, Oliver, Karen L., Kivity, Sara, Mazarib, Aziz, Blatt, Ilan, Neufeld, Miriam Y., Helbig, Katherine L., Goldberg-Stern, Hadassa, Misk, Adel J., Straussberg, Rachel, Walid, Simri, Mahajnah, Muhammad, Lerman-Sagie, Tally, Ben-Zeev, Bruria, Kahana, Esther, Masalha, Rafik, Kramer, Uri, Ekstein, Dana, Shorer, Zamir, Wallace, Robyn H., Mangelsdorf, Marie, MacPherson, James N., Carvill, Gemma L., Mefford, Heather C., Jackson, Graeme D., Scheffer, Ingrid E., Bahlo, Melanie, Gecz, Jozef, Heron, Sarah E., Corbett, Mark, Mulley, John C., Dibbens, Leanne M., Korczyn, Amos D., Berkovic, Samuel F.
Publicado no Neurology (2016)

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Por Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Publicado no Nat Genet (2014)

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Por Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Publicado no Neurology (2016)