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| | Publication Year | Title | Author(s) |
| 1 | 19-Jan-2024 | Somatic mosaicism in focal epilepsies. | Gooley, Samuel; Perucca, Piero ; Tubb, Caitlin; Hildebrand, Michael S ; Berkovic, Samuel F |
| 2 | 21-Dec-2023 | Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report. | Nyaga, Denis M; Hildebrand, Michael S ; de Valles-Ibáñez, Guillem; Keenan, Ngaire F; Ye, Zimeng; LaFlamme, Christy W; Mefford, Heather C; Bennett, Mark F ; Bahlo, Melanie; Sadleir, Lynette G |
| 3 | 1-Dec-2023 | Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. | Morgan, Angela T; Scerri, Thomas S; Vogel, Adam P; Reid, Christopher A; Quach, Mara; Jackson, Victoria E; McKenzie, Chaseley; Burrows, Emma L; Bennett, Mark F ; Turner, Samantha J; Reilly, Sheena; Horton, Sarah E; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A; Featherby, Travis J; Richards, Kay L; Kueh, Andrew; Herold, Marco J; Corbett, Mark A; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy G Y; Liégeois, Frédérique J; Morell, Robert J; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E ; Wright, David K; Bahlo, Melanie; Hildebrand, Michael S |
| 4 | 22-Oct-2023 | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Duan, Jing; Yao, Yi; Li, Lin; Chen, Li; Cao, Dezhi; Hu, Zhanqi; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 5 | 26-Aug-2023 | Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies. | Garza, Denisse; Hildebrand, Michael S ; Penington, Anthony J; Brown, Natasha; de Silva, Michelle G |
| 6 | 26-Aug-2023 | Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75]. | Aledo-Serrano, Angel; Battaglia, Giulia; Blenkinsop, Stephen; Delanty, Norman; Elbendary, Hasnaa M; Eyal, Sara; Guekht, Alla; Gulcebi, Medine I; Henshall, David C; Hildebrand, Michael S ; Macrohon, Bernadette; Madaan, Priyanka; Mifsud, Janet; Mills, James D; Neill, Kathryn Hodgson; Romagnolo, Alessia; Vezzani, Annamaria; Sisodiya, Sanjay M |
| 7 | 12-Aug-2023 | Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma. | Green, Timothy E; Fujita, Atsushi; Ghaderi, Navid; Heinzen, Erin L; Matsumoto, Naomichi; Klein, Karl Martin; Berkovic, Samuel F ; Hildebrand, Michael S |
| 8 | Jul-2023 | Recognition and Epileptology of Protracted CLN3 Disease. | Cameron, Jillian M ; Damiano, John A; Grinton, Bronwyn; Carney, Patrick W ; McKelvie, Penny; Silbert, Peter; Lawn, Nicholas; Scheffer, Ingrid E ; Oliver, Karen L; Hildebrand, Michael S ; Berkovic, Samuel F |
| 9 | 1-Jun-2023 | Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. | Khoshkhoo, Sattar; Wang, Yilan; Chahine, Yasmine; Erson-Omay, E Zeynep; Robert, Stephanie M; Kiziltug, Emre; Damisah, Eyiyemisi C; Nelson-Williams, Carol; Zhu, Guangya; Kong, Wenna; Huang, August Yue; Stronge, Edward; Phillips, H Westley; Chhouk, Brian H; Bizzotto, Sara; Chen, Ming Hui; Adikari, Thiuni N; Ye, Zimeng; Witkowski, Tom ; Lai, Dulcie; Lee, Nadine; Lokan, Julie ; Scheffer, Ingrid E ; Berkovic, Samuel F ; Haider, Shozeb; Hildebrand, Michael S ; Yang, Edward; Gunel, Murat; Lifton, Richard P; Richardson, R Mark; Blümcke, Ingmar; Alexandrescu, Sanda; Huttner, Anita; Heinzen, Erin L; Zhu, Jidong; Poduri, Annapurna; DeLanerolle, Nihal; Spencer, Dennis D; Lee, Eunjung Alice; Walsh, Christopher A; Kahle, Kristopher T |
| 10 | May-2023 | WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk. | Oliver, Karen L; Trivisano, Marina; Mandelstam, Simone A; De Dominicis, Angela; Francis, David I; Green, Timothy E; Muir, Alison M; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A; Leventer, Richard J; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S ; Mefford, Heather C; Kaindl, Angela M; Specchio, Nicola; Scheffer, Ingrid E |
| 11 | Mar-2023 | ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature. | Galea, Laurence A; Hildebrand, Michael S ; Witkowski, Tom ; Joy, Christopher; McEvoy, Christopher R; Hanegbi, Uri; Aga, Ahmad |
| 12 | 7-Feb-2023 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. | Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S ; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia D; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E ; Mefford, Heather C; Carvill, Gemma L |
| 13 | 4-Feb-2023 | Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission. | Aledo-Serrano, Angel; Battaglia, Giulia; Blenkinsop, Stephen; Delanty, Norman; Elbendary, Hasnaa M; Eyal, Sara; Guekht, Alla; Gulcebi, Medine I; Henshall, David C; Hildebrand, Michael S ; Macrohon, Bernadette; Madaan, Priyanka; Mifsud, Janet; Mills, James D; Neill, Kathryn Hodgson; Romagnolo, Alessia; Vezzani, Annamaria; Sisodiya, Sanjay M |
| 14 | 2023 | Sclerosing perivascular epithelioid cell tumour (PEComa) of the testis in a patient with tuberous sclerosis complex. | Galea, Laurence A; Hildebrand, Michael S ; Boys, Amber; Joy, Christopher; Chee, Justin ; White, Gordon |
| 15 | 5-Dec-2022 | Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes. | Ye, Zimeng; Bennett, Mark F ; Neal, Andrew; Laing, Joshua A; Hunn, Martin K; Wittayacharoenpong, Thanomporn; Todaro, Marian; Patel, Sheila K ; Bahlo, Melanie; Kwan, Patrick; O'Brien, Terence J; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S |
| 16 | Dec-2022 | Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F ; Brown, Natasha J; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran; Witkowski, Tom ; Gardiner, Fiona; Stutterd, Chloe A ; Duan, Jing; Mullen, Saul A ; McGillivray, George; Bodek, Simon; Valente, Giulia M ; Reagan, Matthew; Yao, Yi; Li, Lin; Chen, Li; Boys, Amber; Adikari, Thiuni N; Cao, Dezhi; Hu, Zhanqi; Beshay, Victoria; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 17 | Dec-2022 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | Fennell, Andrew Paul; Baxter, Anne Elizabeth; Berkovic, Samuel Frank; Ellaway, Carolyn Jane; Forwood, Caitlin; Hildebrand, Michael S ; Kumble, Smitha; McKeown, Colina; Mowat, David; Poke, Gemma; Rajagopalan, Sulekha; Regan, Brigid M; Scheffer, Ingrid E ; Stark, Zornitza; Stutterd, Chloe Alice; Tan, Tiong Yang; Wilkins, Ella Jane; Yeung, Alison; Hunter, Matthew Frank |
| 18 | 28-Oct-2022 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5. | Happ, Hannah C; Sadleir, Lynette G; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S ; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S; Fenger, Christina D; Klint Nielsen, Jens Erik; Datta, Anita N; Gorman, Kathleen M; King, Mary D; Linhares, Natalia; Burton, Barbara K; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J; Muthusamy, Karthik; Schimmenti, Lisa A; Starnes, Keith; Sedlackova, Lucie; Sterbova, Katalin; Vlckova, Marketa; Lassuthova, Petra; Jahodova, Alena; Porter, Brenda E; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E ; Mefford, Heather C; Carvill, Gemma L |
| 19 | 18-Oct-2022 | A companion to the preclinical common data elements for proteomics, lipidomics and metabolomics data in rodent epilepsy models. A Report of the TASK3-WG4 Omics Working Group of the ILAE/AES Joint Translational Task Force. | Bindila, Laura; Eid, Tore; Mills, James D; Hildebrand, Michael S ; Brennan, Gary P; Masino, Susan A; Whittemore, Vicky; Perucca, Piero ; Reid, Christopher A; Patel, Manisha; Wang, Kevin K; van Vliet, Erwin A |
| 20 | 3-Oct-2022 | Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes. | Ye, Zimeng; Bennett, Mark F ; Neal, Andrew; Laing, Joshua A; Hunn, Martin K; Wittayacharoenpong, Thanomporn; Todaro, Marian; Patel, Sheila K ; Bahlo, Melanie; Kwan, Patrick; O'Brien, Terence J; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S |
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