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| | Publication Year | Title | Author(s) |
| 61 | 2019 | Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. | Booth, Kevin T; Askew, James W; Talebizadeh, Zohreh; Huygen, Patrick L M; Eudy, James; Kenyon, Judith; Hoover, Denise; Hildebrand, Michael S ; Smith, Katherine R; Bahlo, Melanie; Kimberling, William J; Smith, Richard J H; Azaiez, Hela; Smith, Shelley D |
| 62 | 2019 | A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. | Eising, Else; Carrion-Castillo, Amaia; Vino, Arianna; Strand, Edythe A; Jakielski, Kathy J; Scerri, Thomas S; Hildebrand, Michael S ; Webster, Richard; Ma, Alan; Mazoyer, Bernard; Francks, Clyde; Bahlo, Melanie; Scheffer, Ingrid E ; Morgan, Angela T; Shriberg, Lawrence D; Fisher, Simon E |
| 63 | 2019 | SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. | Vlaskamp, Danique R M; Shaw, Benjamin J; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T; Bennett, Mark F; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M; Brooks, Alice S; Mancini, Grazia M S; van de Laar, Ingrid M B H; van Hagen, Johanna M; Ware, Tyson L; Webster, Richard I; Malone, Stephen; Berkovic, Samuel F ; Kalnins, Renate M; Sicca, Federico; Korenke, G Christoph; van Ravenswaaij-Arts, Conny M A; Hildebrand, Michael S ; Mefford, Heather C; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E |
| 64 | Dec-2018 | Development of a rapid functional assay that predicts GLUT1 disease severity. | Zaman, Sasha M; Mullen, Saul A ; Petrovski, Slavé; Maljevic, Snezana; Gazina, Elena V; Phillips, A Marie; Jones, Gabriel Davis; Hildebrand, Michael S ; Damiano, John; Auvin, Stéphane; Lerche, Holger; Weber, Yvonne G; Berkovic, Samuel F ; Scheffer, Ingrid E ; Reid, Christopher A; Petrou, Steven |
| 65 | Aug-2018 | Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy. | Kinay, Demet; Oliver, Karen L; Tüzün, Erdem; Damiano, John A; Ulusoy, Canan; Andermann, Eva; Hildebrand, Michael S ; Bahlo, Melanie; Berkovic, Samuel F |
| 66 | Jun-2018 | Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. | Hildebrand, Michael S ; Harvey, A Simon; Malone, Stephen; Damiano, John A; Do, Hongdo; Ye, Zimeng; McQuillan, Lara ; Maixner, Wirginia; Kalnins, Renate M; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C; Gillies, Greta; Pope, Kate; Lockhart, Paul J; Dobrovic, Alexander ; Leventer, Richard J; Scheffer, Ingrid E ; Berkovic, Samuel F |
| 67 | Feb-2018 | Gain-of-function HCN2 variants in genetic epilepsy. | Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S ; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven; Reid, Christopher A |
| 68 | 19-Jan-2018 | KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. | Myers, Kenneth A; McGlade, Amelia; Neubauer, Bernd A; Lal, Dennis; Berkovic, Samuel F ; Scheffer, Ingrid E ; Hildebrand, Michael S |
| 69 | 2018 | Characterization of speech and language phenotype in children with NRXN1 deletions. | Brignell, Amanda; St John, Miya; Boys, Amber; Bruce, Amanda; Dinale, Carla; Pigdon, Lauren; Hildebrand, Michael S ; Amor, David J; Morgan, Angela T |
| 70 | 2018 | Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing. | Lopez, Jamie A; Noori, Tahereh; Minson, Adrian; Li Jovanoska, Lu; Thia, Kevin; Hildebrand, Michael S ; Akhlaghi, Hedieh; Darcy, Phillip K; Kershaw, Michael H; Brown, Natasha J; Grigg, Andrew P; Trapani, Joseph A; Voskoboinik, Ilia |
| 71 | Dec-2017 | Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome | Damiano, John A; Do, Hongdo; Ozturk, Ezgi; Burgess, Rosemary; Kalnins, Renate; Jones, Nigel C; Dobrovic, Alexander ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 72 | 19-Sep-2017 | Genetic epilepsy with febrile seizures plus: refining the spectrum | Zhang, Yue-Hua; Burgess, Rosemary; Malone, Jodie P; Glubb, Georgie C; Helbig, Katherine L; Vadlamudi, Lata; Kivity, Sara; Afawi, Zaid; Bleasel, Andrew; Grattan-Smith, Padraic; Grinton, Bronwyn E; Bellows, Susannah T; Vears, Danya F; Damiano, John A; Goldberg-Stern, Hadassa; Korczyn, Amos D; Dibbens, Leanne M; Ruzzo, Elizabeth K; Hildebrand, Michael S ; Berkovic, Samuel F ; Scheffer, Ingrid E |
| 73 | Jul-2017 | Evaluation of GLUT1 variation in non-acquired focal epilepsy. | Peeraer, Alexander; Damiano, John A; Bellows, Susannah T; Scheffer, Ingrid E ; Berkovic, Samuel F ; Mullen, Saul A ; Hildebrand, Michael S |
| 74 | 23-Mar-2017 | Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy? | McGlade, Amelia; Myers, Kenneth A; Berkovic, Samuel F ; Scheffer, Ingrid E ; Petrovski, Slavé; Hildebrand, Michael S |
| 75 | Mar-2017 | Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. | Damiano, John A; Burgess, Rosemary; Kivity, Sara; Lerman-Sagie, Tally; Afawi, Zaid; Scheffer, Ingrid E ; Berkovic, Samuel F ; Hildebrand, Michael S |
| 76 | Mar-2017 | Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. | Perucca, Piero ; Scheffer, Ingrid E ; Harvey, A Simon; James, Paul A; Lunke, Sebastian; Thorne, Natalie; Gaff, Clara; Regan, Brigid M; Damiano, John A; Hildebrand, Michael S ; Berkovic, Samuel F ; O'Brien, Terence J; Kwan, Patrick |
| 77 | Feb-2017 | De novo SCN1A pathogenic variants in the GEFS+ spectrum: not always a familial syndrome | Myers, Kenneth A; Burgess, Rosemary; Afawi, Zaid; Damiano, John A; Berkovic, Samuel F ; Hildebrand, Michael S ; Scheffer, Ingrid E |
| 78 | Jan-2017 | Synaptic Zn2+ and febrile seizure susceptibility | Reid, Christopher A; Hildebrand, Michael S ; Mullen, Saul A ; Hildebrand, Joanne M; Berkovic, Samuel F ; Petrou, Steven |
| 79 | Dec-2016 | Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? | Rigbye, Kristin A; van Hasselt, Peter M; Burgess, Rosemary; Damiano, John A; Mullen, Saul A ; Petrovski, Slavé; Puranam, Ram S; van Gassen, Koen L I; Gecz, Jozef; Scheffer, Ingrid E ; McNamara, James O; Berkovic, Samuel F ; Hildebrand, Michael S |
| 80 | 13-Oct-2016 | Early neuroimaging markers of FOXP2 intragenic deletion | Liégeois, Frédérique J; Hildebrand, Michael S ; Bonthrone, Alexandra; Turner, Samantha J; Scheffer, Ingrid E ; Bahlo, Melanie; Connelly, Alan; Morgan, Angela T |
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false
0000-0003-2739-0515