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| | Publication Year | Title | Author(s) |
| 101 | 5-Jan-2012 | Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. | Vears, Danya F; Tsai, Meng-Han; Sadleir, Lynette G; Grinton, Bronwyn E; Lillywhite, Leasha M; Carney, Patrick W ; Harvey, A Simon; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 102 | 7-Jan-2013 | Clinical genetic study of the epilepsy-aphasia spectrum. | Tsai, Meng-Han; Vears, Danya F; Turner, Samantha J; Smith, Robert L; Berkovic, Samuel F ; Sadleir, Lynette G; Scheffer, Ingrid E |
| 103 | 29-Jul-2022 | Clinical impact of whole-genome sequencing in patients with early-onset dementia. | Huq, Aamira J; Thompson, Bryony; Bennett, Mark F ; Bournazos, Adam; Bommireddipalli, Shobhana; Gorelik, Alexandra; Schultz, Joshua; Sexton, Adrienne; Purvis, Rebecca; West, Kirsty; Cotter, Megan ; Valente, Giulia M ; Hughes, Andrew J ; Riaz, Moeen; Walsh, Maie; Farrand, Sarah; Loi, Samantha M; Kilpatrick, Trevor; Brodtmann, Amy ; Darby, David G; Eratne, Dhamidhu; Walterfang, Mark; Delatycki, Martin B ; Storey, Elsdon; Fahey, Michael; Cooper, Sandra; Lacaze, Paul; Masters, Colin L ; Velakoulis, Dennis; Bahlo, Melanie; James, Paul A; Winship, Ingrid |
| 104 | 26-Sep-2015 | Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. | Panagiotakaki, Eleni; De Grandis, Elisa; Stagnaro, Michela; Heinzen, Erin L; Fons, Carmen; Sisodiya, Sanjay; de Vries, Boukje; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid E ; Lesca, Gaëtan; Rabilloud, Muriel; Klich, Amna; Ramirez-Camacho, Alia; Ulate-Campos, Adriana; Campistol, Jaume; Giannotta, Melania; Moutard, Marie-Laure; Doummar, Diane; Hubsch-Bonneaud, Cecile; Jaffer, Fatima; Cross, Helen; Gurrieri, Fiorella; Tiziano, Danilo; Nevsimalova, Sona; Nicole, Sophie; Neville, Brian; van den Maagdenberg, Arn M J M; Mikati, Mohamad; Goldstein, David B; Vavassori, Rosaria; Arzimanoglou, Alexis |
| 105 | 17-Nov-2020 | Clinical trials with cannabis medicines-guidance for ethics committees, governance officers and researchers to streamline ethics applications and ensuring patient safety: considerations from the Australian experience. | Martin, Jennifer H; Hill, Courtney; Walsh, Anna; Efron, Daryl; Taylor, Kaitlyn; Kennedy, Michael; Galettis, Rachel; Lightfoot, Paul A ; Hanson, Julie; Irving, Helen; Agar, Meera; Lacey, Judith |
| 106 | 15-Jan-2021 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, Dhamidhu; Schneider, Amy L ; Lynch, Ella; Martyn, Melissa; Velakoulis, Dennis; Fahey, Michael; Kwan, Patrick; Leventer, Richard; Rafehi, Haloom; Chong, Belinda; Stark, Zornitza; Lunke, Sebastian; Phelan, Dean G; O'Keefe, Melanie; Siemering, Kirby; West, Kirsty; Sexton, Adrienne; Jarmolowicz, Anna; Taylor, Jessica A; Schultz, Joshua; Purvis, Rebecca; Uebergang, Eloise; Chalinor, Heather; Creighton, Belinda; Gelfand, Nikki; Saks, Tamar; Prawer, Yael; Smagarinsky, Yana; Pan, Tianxin; Goranitis, Ilias; Ademi, Zanfina; Gaff, Clara; Huq, Aamira; Walsh, Maie; James, Paul A; Krzesinski, Emma I; Wallis, Mathew J ; Stutterd, Chloe A ; Bahlo, Melanie; Delatycki, Martin B ; Berkovic, Samuel F |
| 107 | 25-Jan-2014 | Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. | Martin, Hilary C; Kim, Grace E; Pagnamenta, Alistair T; Murakami, Yoshiko; Carvill, Gemma L; Meyer, Esther; Copley, Richard R; Rimmer, Andrew; Barcia, Giulia; Fleming, Matthew R; Kronengold, Jack; Brown, Maile R; Hudspith, Karl A; Broxholme, John; Kanapin, Alexander; Cazier, Jean-Baptiste; Kinoshita, Taroh; Nabbout, Rima; Bentley, David; McVean, Gil; Heavin, Sinéad; Zaiwalla, Zenobia; McShane, Tony; Mefford, Heather C; Shears, Deborah; Stewart, Helen; Kurian, Manju A; Scheffer, Ingrid E ; Blair, Edward; Donnelly, Peter; Kaczmarek, Leonard K; Taylor, Jenny C |
| 108 | 5-Jul-2022 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E ; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A |
| 109 | 30-Jul-2022 | Cognition, adaptive skills and epilepsy disability/severity in patients with Lennox-Gastaut syndrome undergoing deep brain stimulation for epilepsy in the ESTEL trial. | Dalic, Linda J ; Warren, Aaron E L; Malpas, Charles B; Thevathasan, Wesley; Roten, Annie ; Bulluss, Kristian J ; Archer, John S |
| 110 | May-2017 | Cognitive network reorganization following surgical control of seizures in Lennox-Gastaut syndrome. | Warren, Aaron E L; Harvey, A Simon; Abbott, David F ; Vogrin, Simon J; Bailey, Catherine; Davidson, Andrew; Jackson, Graeme D ; Archer, John S |
| 111 | Jun-2020 | Cognitive processes predicting advanced theory of mind in the broader autism phenotype. | Green, Cherie C; Brown, Natasha J; Yap, Valerie M Z; Scheffer, Ingrid E ; Wilson, Sarah J |
| 112 | Nov-2020 | Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome. | Brown, Amy; Arpone, Marta; Schneider, Amy L ; Micallef, Silvana ; Anderson, Vicki A; Scheffer, Ingrid E |
| 113 | Sep-2020 | Combined Isoflurane-Remifentanil Anaesthesia Permits Resting-State fMRI in Children with Severe Epilepsy and Intellectual Disability. | Warren, Aaron E L; Davidson, Andrew; Vogrin, Simon J; Harvey, A Simon; Bailey, Catherine; Dalic, Linda J ; Abbott, David F ; Archer, John S |
| 114 | 31-Mar-2014 | Common experiences of patients following suboptimal treatment outcomes: implications for epilepsy surgery. | Fernando, Dinusha K; McIntosh, Anne M ; Bladin, Peter F ; Wilson, Sarah J |
| 15 | Jul-2022 | Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. | 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 |
| 16 | Jan-2023 | Comorbidities in newly diagnosed epilepsy: Pre-existing health conditions are common and complex across age groups. | McIntosh, Anne M ; Carney, Patrick W ; Tan, K Meng; Hakami, Tahir M; Perucca, Piero ; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F |
| 17 | 11-Aug-2022 | A companion to the preclinical common data elements for genomics, transcriptomics and epigenomics data in rodent epilepsy models. A Report of the TASK3-WG4 Omics Working Group of the ILAE/AES Joint Translational Task Force. | van Vliet, Erwin A; Hildebrand, Michael S ; Mills, James D; Brennan, Gary P; Eid, Tore; Masino, Susan A; Whittemore, Vicky; Bindila, Laura; Wang, Kevin K; Patel, Manisha; Perucca, Piero ; Reid, Christopher A |
| 18 | 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 |
| 19 | May-2023 | Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. | 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 |
| 20 | 24-Jan-2023 | Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome. | Howell, Katherine B; Butcher, Sophie; Schneider, Amy L ; Russ-Hall, Sophie; Muzarir, Pearl R; Kerr, Rachel; Overmars, Isabella; Hayman, Michael; Kornberg, Andrew J; Danchin, Margie; Crawford, Nigel W; Scheffer, Ingrid E |
