brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets

por Freytag, Saskia, Burgess, Rosemary, Oliver, Karen L., Bahlo, Melanie
Publicado 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

por Bennett, Caitlin A., Petrovski, Slavé, Oliver, Karen L., Berkovic, Samuel F.
Publicado 2017

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 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 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 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 2014

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

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

por Oliver, Karen L., Ellis, Colin A., Scheffer, Ingrid E., Ganesan, Shiva, Leu, Costin, Sadleir, Lynette G., Heinzen, Erin L., Mefford, Heather C., Bass, Andrew J., Curtis, Sarah W., Harris, Rebekah V., Whiteman, David C., Helbig, Ingo, Ottman, Ruth, Epstein, Michael P., Bahlo, Melanie, Berkovic, Samuel F.
Publicado 2022

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

por Francis, David I., Stark, Zornitza, Scheffer, Ingrid E., Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A., Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Hackett, Anna, Ayres, Samantha, Lunke, Sebastian, Kalitsis, Paul, Wall, Meaghan
Publicado 2022

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

por Canafoglia, Laura, Franceschetti, Silvana, Gambardella, Antonio, Striano, Pasquale, Giallonardo, Anna Teresa, Tinuper, Paolo, Di Bonaventura, Carlo, Michelucci, Roberto, Ferlazzo, Edoardo, Granata, Tiziana, Magaudda, Adriana, Licchetta, Laura, Filla, Alessandro, La Neve, Angela, Riguzzi, Patrizia, Cantisani, Teresa Anna, Fanella, Martina, CASTELLOTTI, BARBARA, Gellera, Cinzia, Bahlo, Melanie, Zara, Federico, Courage, Carolina, Lehesjoki, Anna-Elina, Oliver, Karen L., Berkovic, Samuel F.
Publicado 2021

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 2016