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| | Publication Year | Title | Author(s) |
| 41 | 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 |
| 42 | 21-Jan-2021 | Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. | Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara ; Harvey, Anthony Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy L ; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander ; Scheffer, Ingrid E ; Bahlo, Melanie; Leventer, Richard J; Lister, Ryan; Berkovic, Samuel F ; Hildebrand, Michael S |
| 43 | 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 |
| 44 | 2021 | Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing. | Ye, Zimeng; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 45 | 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 |
| 46 | 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 |
| 47 | 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 |
| 48 | 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 |
| 49 | 19-Jun-2020 | A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. | Hildebrand, Joanne M; Kauppi, Maria; Majewski, Ian J; Liu, Zikou; Cox, Allison J; Miyake, Sanae; Petrie, Emma J; Silk, Michael A; Li, Zhixiu; Tanzer, Maria C; Brumatti, Gabriela; Young, Samuel N; Hall, Cathrine; Garnish, Sarah E; Corbin, Jason; Stutz, Michael D; Di Rago, Ladina; Gangatirkar, Pradnya; Josefsson, Emma C; Rigbye, Kristin; Anderton, Holly; Rickard, James A; Tripaydonis, Anne; Sheridan, Julie; Scerri, Thomas S; Jackson, Victoria E; Czabotar, Peter E; Zhang, Jian-Guo; Varghese, Leila; Allison, Cody C; Pellegrini, Marc; Tannahill, Gillian M; Hatchell, Esme C; Willson, Tracy A; Stockwell, Dina; de Graaf, Carolyn A; Collinge, Janelle; Hilton, Adrienne; Silke, Natasha; Spall, Sukhdeep K; Chau, Diep; Athanasopoulos, Vicki; Metcalf, Donald; Laxer, Ronald M; Bassuk, Alexander G; Darbro, Benjamin W; Fiatarone Singh, Maria A; Vlahovich, Nicole; Hughes, David; Kozlovskaia, Maria; Ascher, David B; Warnatz, Klaus; Venhoff, Nils; Thiel, Jens; Biben, Christine; Blum, Stefan; Reveille, John; Hildebrand, Michael S ; Vinuesa, Carola G; McCombe, Pamela; Brown, Matthew A; Kile, Benjamin T; McLean, Catriona; Bahlo, Melanie; Masters, Seth L; Nakano, Hiroyasu; Ferguson, Polly J; Murphy, James M; Alexander, Warren S; Silke, John |
| 50 | May-2020 | Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. | Hildebrand, Michael S ; Jackson, Victoria E; Scerri, Thomas S; Van Reyk, Olivia; Coleman, Matthew J; Braden, Ruth O; Turner, Samantha; Rigbye, Kristin A; Boys, Amber; Barton, Sarah; Webster, Richard; Fahey, Michael; Saunders, Kerryn; Parry-Fielder, Bronwyn; Paxton, Georgia; Hayman, Michael; Coman, David; Goel, Himanshu; Baxter, Anne; Ma, Alan; Davis, Noni; Reilly, Sheena; Delatycki, Martin; Liégeois, Frederique J; Connelly, Alan; Gecz, Jozef; Fisher, Simon E; Amor, David J; Scheffer, Ingrid E ; Bahlo, Melanie; Morgan, Angela T |
| 51 | Apr-2020 | Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. | Sadleir, Lynette G; de Valles-Ibáñez, Guillem; King, Chontelle; Coleman, Matthew J; Mossman, Stuart; Paterson, Sarah; Nguyen, John; Berkovic, Samuel F ; Mullen, Saul; Bahlo, Melanie; Hildebrand, Michael S ; Mefford, Heather C; Scheffer, Ingrid E |
| 52 | 10-Feb-2020 | Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. | Tsai, Meng-Han; Muir, Alison M; Wang, Won-Jing; Kang, Yi-Ning; Yang, Kun-Chuan; Chao, Nian-Hsin; Wu, Mei-Feng; Chang, Ying-Chao; Porter, Brenda E; Jansen, Laura A; Sebire, Guillaume; Deconinck, Nicolas; Fan, Wen-Lang; Su, Shih-Chi; Chung, Wen-Hung; Almanza Fuerte, Edith P; Mehaffey, Michele G; Ng, Ching-Ching; Chan, Chung-Kin; Lim, Kheng-Seang; Leventer, Richard J; Lockhart, Paul J; Riney, Kate; Damiano, John A; Hildebrand, Michael S ; Mirzaa, Ghayda M; Dobyns, William B; Berkovic, Samuel F ; Scheffer, Ingrid E ; Tsai, Jin-Wu; Mefford, Heather C |
| 53 | Feb-2020 | SCN1A variants in vaccine-related febrile seizures: a prospective study. | Damiano, John A; Deng, Lucy; Li, Wenhui; Burgess, Rosemary; Schneider, Amy L ; Crawford, Nigel W; Buttery, Jim; Gold, Michael; Richmond, Peter; Macartney, Kristine K; Hildebrand, Michael S ; Scheffer, Ingrid E ; Wood, Nicholas; Berkovic, Samuel F |
| 54 | 1-Oct-2019 | Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response. | Johnson, Jennifer L; Stoica, Loredana; Liu, Yuwei; Zhu, Ping Jun; Bhattacharya, Abhisek; Buffington, Shelly; Huq, Redwan; Eissa, N Tony; Larsson, Ola; Porse, Bo T; Domingo, Deepti; Nawaz, Urwah; Carroll, Renee; Jolly, Lachlan; Scerri, Tom S; Kim, Hyung-Goo; Brignell, Amanda; Coleman, Matthew J; Braden, Ruth; Kini, Usha; Jackson, Victoria; Baxter, Anne; Bahlo, Melanie; Scheffer, Ingrid E ; Amor, David J; Hildebrand, Michael S ; Bonnen, Penelope E; Beeton, Christine; Gecz, Jozef; Morgan, Angela T; Costa-Mattioli, Mauro |
| 55 | 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 |
| 56 | Sep-2019 | Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. | Ye, Zimeng; McQuillan, Lara ; Poduri, Annapurna; Green, Timothy E; Matsumoto, Naomichi; Mefford, Heather C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 57 | Sep-2019 | Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania. | Ware, Tyson L; Huskins, Shannon R; Grinton, Bronwyn E; Liu, Yu-Chi; Bennett, Mark F; Harvey, Michael; McMahon, Jacinta; Andreopoulos-Malikotsinas, Danae; Bahlo, Melanie; Howell, Katherine B; Hildebrand, Michael S ; Damiano, John A; Rosenfeld, Alexander; Mackay, Mark T; Mandelstam, Simone; Leventer, Richard J; Harvey, A Simon; Freeman, Jeremy L; Scheffer, Ingrid E ; Jones, Dean L; Berkovic, Samuel F |
| 58 | 20-Jul-2019 | Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. | Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; Harlan De Crescenzo, Angelo; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S ; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew J ; Walsh, Laurence; Yang, Sandra; Yuen, Ryan K C; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami |
| 59 | 30-Apr-2019 | Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. | Khan, Kamal; Zech, Michael; Morgan, Angela T; Amor, David J; Skorvanek, Matej; Khan, Tahir N; Hildebrand, Michael S ; Jackson, Victoria E; Scerri, Thomas S; Coleman, Matthew; Rigbye, Kristin A; Scheffer, Ingrid E ; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D; Berutti, Riccardo; Havránková, Petra; Fečíková, Anna; Strom, Tim M; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R; Baig, Shahid M; Jech, Robert; Davis, Erica E; Katsanis, Nicholas; Winkelmann, Juliane |
| 20 | 1-Jan-2019 | Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. | Berkovic, Samuel F ; Oliver, Karen L; Canafoglia, Laura; Krieger, Penina; Damiano, John A; Hildebrand, Michael S ; Morbin, Michela; Vears, Danya F; Sofia, Vito; Giuliano, Loretta; Garavaglia, Barbara; Simonati, Alessandro; Santorelli, Filippo M; Gambardella, Antonio; Labate, Angelo; Belcastro, Vincenzo; Castellotti, Barbara; Ozkara, Cigdem; Zeman, Adam; Rankin, Julia; Mole, Sara E; Aguglia, Umberto; Farrell, Michael; Rajagopalan, Sulekha; McDougall, Alan; Brammah, Susan; Andermann, Frederick; Andermann, Eva; Dahl, Hans-Henrik M; Franceschetti, Silvana; Carpenter, Stirling |
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