|
| | Publication Year | Title | Author(s) |
| 221 | Nov-2015 | Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy | Damiano, John A; Mullen, Saul A ; Hildebrand, Michael S ; Bellows, Susannah T; Lawrence, Kate M; Arsov, Todor; Dibbens, Leanne M; Major, Heather; Dahl, Hans-Henrik M; Mefford, Heather C; Darbro, Benjamin W; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 222 | Sep-2023 | Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. | D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; Curtis, Meredith; Higginbotham, Edward J; Holland, Jonathon; Khan, Tayyaba; Koh, Julia; Liang, Nicole S Y; McRae, Lyndsey; Nesbitt, Sarah E; Oby, Brandon T; Paternoster, Ben; Patton, Alistair; Rose, Graham; Scotchman, Elizabeth; Valentine, Rozalia; Wiltrout, Kimberly N; Hayeems, Robin Z; Jain, Puneet; Lunke, Sebastian; Marshall, Christian R; Rockowitz, Shira; Sebire, Neil J; Stark, Zornitza; White, Susan M; Chitty, Lyn S; Cross, J Helen; Scheffer, Ingrid E ; Chau, Vann; Costain, Gregory; Poduri, Annapurna; Howell, Katherine B; McTague, Amy |
| 223 | 1-Sep-2006 | Event-related fMRI of myoclonic jerks arising from dysplastic cortex. | Archer, John S ; Waites, Anthony B; Abbott, David F ; Federico, Paolo; Jackson, Graeme D |
| 124 | 2022 | Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. | Bennett, Mark F ; Hildebrand, Michael S ; Kayumi, Sayaka; Corbett, Mark A; Gupta, Sachin; Ye, Zimeng; Krivanek, Michael; Burgess, Rosemary; Henry, Olivia J; Damiano, John A; Boys, Amber; Gécz, Jozef; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 125 | 7-Aug-2012 | Evidence for genetic factors in vasovagal syncope: a twin-family study. | Klein, Karl Martin; Xu, San San ; Lawrence, Kate M; Fischer, Alexandra; Berkovic, Samuel F |
| 126 | Jun-2019 | Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approach. | Mohandas, Namitha; Loke, Yuk Jing; Hopkins, Stephanie; Mackenzie, Lisa; Bennett, Carmen; Berkovic, Samuel F ; Vadlamudi, Lata; Craig, Jeffrey M |
| 127 | Aug-2018 | Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy. | Kinay, Demet; Oliver, Karen L; Tüzün, Erdem; Damiano, John A; Ulusoy, Canan; Andermann, Eva; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F |
| 128 | 22-Oct-2002 | Exercise-induced temporal lobe epilepsy. | Sturm, Jonathan W; Fedi, Marco; Berkovic, Samuel F ; Reutens, David C |
| 129 | Apr-2020 | EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. | Shaw, Marie; Winczewska-Wiktor, Anna; Badura-Stronka, Magdalena; Koirala, Sunita; Gardner, Alison; Kuszel, Łukasz; Kowal, Piotr; Steinborn, Barbara; Starczewska, Monika; Garry, Sarah; Scheffer, Ingrid E ; Berkovic, Samuel F ; Gecz, Jozef |
| 130 | 2023 | Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice. | Scheffer, Ingrid E ; Bennett, Caitlin A; Gill, Deepak; de Silva, Michelle G; Boggs, Kirsten; Marum, Justine; Baker, Naomi; Palmer, Elizabeth E; Howell, Katherine B |
| 131 | Oct-2017 | Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death. | Bagnall, Richard D; Ingles, Jodie; Yeates, Laura; Berkovic, Samuel F ; Semsarian, Christopher |
| 132 | Apr-2016 | Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy | Bagnall, Richard D; Crompton, Douglas E; Petrovski, Slavé; Lam, Lien; Cutmore, Carina; Garry, Sarah I; Sadleir, Lynette G; Dibbens, Leanne M; Cairns, Anita; Kivity, Sara; Afawi, Zaid; Regan, Brigid M; Duflou, Johan; Berkovic, Samuel F ; Scheffer, Ingrid E ; Semsarian, Christopher |
| 133 | Oct-2021 | Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. | Stutterd, Chloe A ; Kidd, Alexa; Florkowski, Chris; Janus, Edward; Fanjul, Miriam; Raizis, Anthony; Wu, Teddy Y; Archer, John S ; Leventer, Richard J; Amor, David J; Lukic, Vesna; Bahlo, Melanie; Gow, Paul J ; Lockhart, Paul J; van der Knaap, Marjo S; Delatycki, Martin B |
| 134 | 12-Sep-2019 | Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. | Bar, Claire; Barcia, Giulia; Jennesson, Mélanie; Le Guyader, Gwenaël; Schneider, Amy L ; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; de Villemeur, Thierry Billette; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Hervé; Poisson, Alice; Dupont, Sophie; Berquin, Patrick; Meyer, Pierre; Genevieve, David; De Saint Martin, Anne; El Chehadeh, Salima; Chelly, Jamel; Guët, Agnès; Scalais, Emmanuel; Dorison, Nathalie; Myers, Candace T; Mefford, Heather C; Howell, Katherine B; Marini, Carla; Freeman, Jeremy L; Nica, Anca; Terrone, Gaetano; Sekhara, Tayeb; Lebre, Anne-Sophie; Odent, Sylvie; Sadleir, Lynette G; Munnich, Arnold; Guerrini, Renzo; Scheffer, Ingrid E ; Kabashi, Edor; Nabbout, Rima |
| 135 | 30-Jan-2024 | Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. | Morison, Lottie D; Kennis, Milou G P; Rots, Dmitrijs; Bouman, Arianne; Kummeling, Joost; Palmer, Elizabeth; Vogel, Adam P; Liegeois, Frederique; Brignell, Amanda; Srivastava, Siddharth; Frazier, Zoe; Milnes, Di; Goel, Himanshu; Amor, David J; Scheffer, Ingrid E ; Kleefstra, Tjitske; Morgan, Angela T |
| 136 | Oct-2019 | Expansion of phenotype of DDX3X syndrome: six new cases. | Beal, Bryony; Hayes, Ian; McGaughran, Julie; Amor, David J; Miteff, Christina; Jackson, Victoria; van Reyk, Olivia; Subramanian, Gopinath; Hildebrand, Michael S ; Morgan, Angela T; Goel, Himanshu |
| 137 | 28-Apr-2020 | ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. | Dolzhenko, Egor; Bennett, Mark F ; Richmond, Phillip A; Trost, Brett; Chen, Sai; van Vugt, Joke J F A; Nguyen, Charlotte; Narzisi, Giuseppe; Gainullin, Vladimir G; Gross, Andrew M; Lajoie, Bryan R; Taft, Ryan J; Wasserman, Wyeth W; Scherer, Stephen W; Veldink, Jan H; Bentley, David R; Yuen, Ryan K C; Bahlo, Melanie; Eberle, Michael A |
| 138 | 2024 | Exploring individual fixel-based white matter abnormalities in epilepsy. | Mito, Remika; Pedersen, Mangor; Pardoe, Heath; Parker, Donna; Smith, Robert E; Cameron, Jillian M ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Vaughan, David N; Jackson, Graeme D |
| 139 | Dec-2023 | Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data. | Fearnley, Liam G; Rafehi, Haloom; Bennett, Mark F ; Bahlo, Melanie |
| 140 | 26-Apr-2013 | Expression of the transmembrane lysosomal protein SCARB2/Limp-2 in renin secretory granules controls renin release. | Lee, D ; Desmond, Michael J; Fraser, S A; Katerelos, M ; Gleich, Kurt; Berkovic, Samuel F ; Power, David Anthony |
