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| | Publication Year | Title | Author(s) |
| 41 | 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 |
| 42 | 22-Jun-2021 | ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. | Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møller, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Haeringen, Arie Van; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; A-Collaborators, Atp A/; Bigoni, Stefania; Scheffer, Ingrid E ; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo |
| 43 | 29-Apr-2022 | Atypical development of Broca's area in a large family with inherited stuttering. | Thompson-Lake, Daisy G Y; Scerri, Thomas S; Block, Susan; Turner, Samantha J; Reilly, Sheena; Kefalianos, Elaina; Bonthrone, Alexandra F; Helbig, Ingo; Bahlo, Melanie; Scheffer, Ingrid E ; Hildebrand, Michael S ; Liégeois, Frédérique J; Morgan, Angela T |
| 44 | 25-Oct-2013 | Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. | Kim, Young Ok; Bellows, Susannah; McMahon, Jacinta M; Iona, Xenia; Damiano, John Anthony; Dibbens, Leanne M; Kelley, Kent; Gill, Deepak S; Cross, Judith Helen; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 45 | Jun-2021 | The Australian Academy of Health and Medical Sciences: an authoritative, independent voice in the Australian landscape. | Scheffer, Ingrid E ; Frazer, Ian H |
| 6 | 2-Mar-2023 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Stark, Zornitza; Boughtwood, Tiffany; Haas, Matilda; Braithwaite, Jeffrey; Gaff, Clara L; Goranitis, Ilias; Spurdle, Amanda B; Hansen, David P; Hofmann, Oliver; Laing, Nigel; Metcalfe, Sylvia; Newson, Ainsley J; Scott, Hamish S; Thorne, Natalie; Ward, Robyn L; Dinger, Marcel E; Best, Stephanie; Long, Janet C; Grimmond, Sean M; Pearson, John; Waddell, Nicola; Barnett, Christopher P; Cook, Matthew; Field, Michael; Fielding, David; Fox, Stephen B; Gecz, Jozef; Jaffe, Adam; Leventer, Richard J; Lockhart, Paul J; Lunke, Sebastian; Mallett, Andrew J; McGaughran, Julie; Mileshkin, Linda; Nones, Katia; Roscioli, Tony; Scheffer, Ingrid E ; Semsarian, Christopher; Simons, Cas; Thomas, David M; Thorburn, David R; Tothill, Richard; White, Deborah; Dunwoodie, Sally; Simpson, Peter T; Phillips, Peta; Brion, Marie-Jo; Finlay, Keri; Quinn, Michael Cj; Mattiske, Tessa; Tudini, Emma; Boggs, Kirsten; Murray, Sean; Wells, Kathy; Cannings, John; Sinclair, Andrew H; Christodoulou, John; North, Kathryn N |
| 7 | 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 |
| 8 | 21-Oct-2020 | Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. | Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P; Gillentine, Madelyn A; Wilfert, Amy B; Perez-Jurado, Luis A; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K; Rosenfeld, Jill A; Geisheker, Madeleine R; Han, Lin; Du, Bing; Barnett, Chris; Thompson, Elizabeth; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt-Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; McKenna, Brooke; Hancarova, Miroslava; Bendova, Sarka; Havlovicova, Marketa; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; van Haeringen, Arie; Hoffer, Mariette J V; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B ; Lockhart, Paul J; Manning, Melanie A; Liu, Pengfei; Scheffer, Ingrid E ; Brunetti-Pierri, Nicola; Rommelse, Nanda; Amaral, David G; Santen, Gijs W E; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J; Pierce, Karen; Courchesne, Eric; Kooy, R Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael A; Gecz, Jozef; Xia, Kun; Eichler, Evan E |
| 9 | 8-Jun-2019 | Autism and developmental disability caused by KCNQ3 gain-of-function variants. | Sands, Tristan T; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E; Sadleir, Lynette G; Arrington, Daniel K; Schönewolf-Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E ; Mefford, Heather C; Stong, Nicholas; Heinzen, Erin L; Goldstein, David B; Grijalvo Perez, Ana; Kossoff, Eric H; Stocco, Amber; Sullivan, Jennifer A; Shashi, Vandana; Gerard, Benedicte; Francannet, Christine; Bisgaard, Anne-Marie; Tümer, Zeynep; Willems, Marjolaine; Rivier, François; Vitobello, Antonio; Thakkar, Kavita; Rajan, Deepa S; Barkovich, A James; Weckhuysen, Sarah; Cooper, Edward C; Taglialatela, Maurizio; Cilio, M Roberta |
| 10 | 26-Feb-1994 | Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. | Scheffer, Ingrid E ; Bhatia, K P; Lopes-Cendes, I; Fish, D R; Marsden, C D; Andermann, Frederick; Andermann, Eva; Desbiens, R; Cendes, F; Manson, J I |
| 11 | 1-Aug-2000 | Autosomal dominant nocturnal frontal lobe epilepsy. | Scheffer, Ingrid E |
| 12 | 1-Feb-1995 | Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. | Scheffer, Ingrid E ; Bhatia, K P; Lopes-Cendes, I; Fish, D R; Marsden, C D; Andermann, Eva; Andermann, Frederick; Desbiens, R; Keene, D; Cendes, F |
| 13 | 1-Oct-1995 | Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. | Scheffer, Ingrid E ; Jones, L; Pozzebon, M; Howell, R A; Saling, Michael M ; Berkovic, Samuel F |
| 14 | 2000 | Autosomal dominant rolandic epilepsy with speech dyspraxia. | Scheffer, Ingrid E |
| 15 | 16-Apr-2013 | Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26. | Klein, Karl Martin; Bromhead, Catherine J; Smith, Katherine R; O'Callaghan, Christopher J ; Corcoran, Susan J; Heron, Sarah E; Iona, Xenia; Hodgson, Bree L; McMahon, Jacinta M; Lawrence, Kate M; Scheffer, Ingrid E ; Dibbens, Leanne M; Bahlo, Melanie; Berkovic, Samuel F |
| 16 | 1-Feb-2003 | Benign epilepsy with centro-temporal spikes: spike triggered fMRI shows somato-sensory cortex activity. | Archer, John S ; Briellman, Regula S; Abbott, David F ; Syngeniotis, Ari; Wellard, R Mark; Jackson, Graeme D |
| 17 | 1-Apr-2004 | Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. | Berkovic, Samuel F ; Heron, Sarah E; Giordano, Lucio; Marini, Carla; Guerrini, Renzo; Kaplan, Robert E; Gambardella, Antonio; Steinlein, Ortrud K; Grinton, Bronwyn E; Dean, Joanne T; Bordo, Laura; Hodgson, Bree L; Yamamoto, Toshiyuki; Mulley, John C; Zara, Federico; Scheffer, Ingrid E |
| 18 | 9-Jul-2008 | Benign occipital epilepsies of childhood: clinical features and genetics. | Taylor, Isabella; Berkovic, Samuel F ; Kivity, Sara; Scheffer, Ingrid E |
| 19 | 1-Sep-1999 | Benign partial seizures of adolescence. | King, M A; Newton, Mark R; Berkovic, Samuel F |
| 20 | 2-Apr-2020 | Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. | Dong, Xiaomin; Tan, Natalie B; Howell, Katherine B; Barresi, Sabina; Freeman, Jeremy L; Vecchio, Davide; Piccione, Maria; Radio, Francesca Clementina; Calame, Daniel; Zong, Shan; Eggers, Stefanie; Scheffer, Ingrid E ; Tan, Tiong Y; Van Bergen, Nicole J; Tartaglia, Marco; Christodoulou, John; White, Susan M |
