| | Publication Year | Title | Author(s) |
| 1 | 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 |
| 2 | 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 |
| 3 | 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 |
| 4 | 3-Nov-2022 | A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. | Grinton, Bronwyn E; Robertson, Erandee; Fearnley, Liam G; Scheffer, Ingrid E ; Marson, Anthony G; O'Brien, Terence J; Pickrell, W Owen; Rees, Mark I; Sisodiya, Sanjay M; Balding, David J; Bennett, Mark F ; Bahlo, Melanie; Berkovic, Samuel F ; Oliver, Karen L |
| 5 | 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 |
| 6 | 29-Jul-2022 | Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy. | Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F ; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E ; Bahlo, Melanie; Berkovic, Samuel F ; Hildebrand, Michael S ; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso |
| 7 | 21-Jul-2022 | Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. | Green, Timothy E; Motelow, Joshua E; Bennett, Mark F ; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Bahlo, Melanie; Goldstein, David B; Kerrigan, John F; Heinzen, Erin L; Berkovic, Samuel F ; Hildebrand, Michael S |
| 8 | 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 |
| 9 | 18-May-2021 | Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP. | Soh, Ming S; Bagnall, Richard D; Bennett, Mark F ; Bleakley, Lauren E; Mohamed Syazwan, Erlina S; Marie Phillips, A; Chiam, Mathew D F; McKenzie, Chaseley E; Hildebrand, Michael S ; Crompton, Douglas; Bahlo, Melanie; Semsarian, Christopher; Scheffer, Ingrid E ; Berkovic, Samuel F ; Reid, Christopher A |
| 10 | 4-May-2021 | Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. | Heron, Sarah E; Regan, Brigid M; Harris, Rebekah V; Gardner, Alison E; Coleman, Matthew J; Bennett, Mark F ; Grinton, Bronwyn E; Helbig, Katherine L; Sperling, Michael R; Haut, Sheryl; Geller, Eric B; Widdess-Walsh, Peter; Pelekanos, James T; Bahlo, Melanie; Petrovski, Slavé; Heinzen, Erin L; Hildebrand, Michael S ; Corbett, Mark A; Scheffer, Ingrid E ; Gécz, Jozef; Berkovic, Samuel F |
| 11 | Feb-2021 | NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. | Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F ; Berkovic, Samuel F ; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S ; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L ; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E |
| 12 | Jan-2021 | Transcriptome analysis of a ring chromosome 20 patient cohort. | Myers, Kenneth A; Bennett, Mark F ; Hildebrand, Michael S ; Coleman, Matthew J; Zhou, Geyu; Hollingsworth, Georgie; Cairns, Anita; Riney, Kate; Berkovic, Samuel F ; Bahlo, Melanie; Scheffer, Ingrid E |
| 13 | 2021 | Contribution of rare genetic variants to drug response in absence epilepsy. | Myers, Kenneth A; Bennett, Mark F ; Grinton, Bronwyn E; Dabscheck, Gabriel; Chan, Eunice K; Bello-Espinosa, Luis E; Sadleir, Lynette G; D'Alfonso, Sabrina; Schneider, Amy L ; Damiano, John A; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F ; Buchhalter, Jeffrey; Scheffer, Ingrid E |
| 14 | 2021 | Cutting Edge Approaches to Detecting Brain Mosaicism Associated with Common Focal Epilepsies: Implications for Diagnosis and Potential therapies. | Ye, Zimeng; Bennett, Mark F ; Bahlo, Melanie; Scheffer, Ingrid E ; Berkovic, Samuel F ; Perucca, Piero ; Hildebrand, Michael S |
| 15 | 14-Oct-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. | Palencia-Campos, Adrian; Aoto, Phillip C; Machal, Erik M F; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S ; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F ; Schneider, Amy L ; Scheffer, Ingrid E ; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew J ; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L |
| 16 | Jul-2020 | Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. | Bennett, Mark F ; Oliver, Karen L; Regan, Brigid M; Bellows, Susannah T; Schneider, Amy L ; Rafehi, Haloom; Sikta, Neblina; Crompton, Douglas E; Coleman, Matthew; Hildebrand, Michael S ; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bahlo, Melanie |