| A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity KL Kolc, LG Sadleir, IE Scheffer, A Ivancevic, R Roberts, DH Pham, ... Molecular psychiatry 24 (2), 241-251, 2019 | 124 | 2019 |
| Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα) DH Pham, CC Tan, CC Homan, KL Kolc, MA Corbett, D McAninch, ... Human molecular genetics 26 (11), 2042-2052, 2017 | 38 | 2017 |
| A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy KL Kolc, LG Sadleir, C Depienne, C Marini, IE Scheffer, RS Møller, ... Translational psychiatry 10 (1), 127, 2020 | 35 | 2020 |
| PCDH19 pathogenic variants in males: expanding the phenotypic spectrum KL Kolc, RS Møller, LG Sadleir, IE Scheffer, R Kumar, J Gecz Cell Biology and Translational Medicine, Volume 10: Stem Cells in Tissue …, 2020 | 24 | 2020 |
| Levetiracetam efficacy in PCDH19 girls clustering epilepsy LG Sadleir, KL Kolc, C King, HC Mefford, RC Dale, J Gecz, IE Scheffer European Journal of Paediatric Neurology 24, 142-147, 2020 | 21 | 2020 |
| Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy J Sullivan, B Gunning, M Zafar, R Guerrini, J Gecz, KL Kolc, Y Zhao, ... Epilepsy Research 191, 107112, 2023 | 7 | 2023 |
| Measuring psychiatric symptoms online: A systematic review of the use of inventories on Amazon Mechanical Turk (mTurk) KL Kolc, YXK Tan, AZY Lo, A Shvetcov, PB Mitchell, IE Perkes Journal of psychiatric research 163, 118-126, 2023 | 3 | 2023 |
| Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants DH Pham, MR Pitman, R Kumar, LA Jolly, R Schulz, AE Gardner, ... Human mutation 42 (8), 1030-1041, 2021 | 2 | 2021 |
| Development of a clinician directory for OCD D Cooper, J Lam-Po-Tang, KL Kolc, L Farrell, JR Grisham, IE Perkes Australian and New Zealand Journal of Psychiatry 56 (1_ SUPPL), 75-75, 2022 | 1 | 2022 |
| Corrigendum to" Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy"[Epilepsy Res.(2023) 191 107112] J Sullivan, B Gunning, M Zafar, R Guerrini, J Gecz, KL Kolc, Y Zhao, ... Epilepsy research, 107342, 2024 | | 2024 |
| OCD BOUNCE: A TRANSLATIONAL FRAMEWORK FOR CLINICAL CARE AND RESEARCH IE Perkes, KL Kolc, D Cooper, L Farrell, JR Grisham AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY 56 (1_ SUPPL), 73-74, 2022 | | 2022 |
| Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics J Gecz, K Kolc, L Sadleir, C Depienne, C Marini, IE Scheffer, RS Moller, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 72-72, 2020 | | 2020 |
| Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular" mosaics" KL Kolc | | 2020 |
| Febrile Seizure Plus and PCDH19-Related Epilepsy Syndromes I Ali, DF Clarke Journal of Pediatric Epilepsy 8 (03), 074-078, 2019 | | 2019 |
| INTEGRATED IN SILICO AND EXPERIMENTAL ASSESSMENT OF DISEASE-RELEVANCE OF PROTOCADHERIN 19 (PCDH19) MISSENSE VARIANTS DH Pham, MR Pitman, R Kumar, L Jolly, A Gardner, R de Nys, SE Heron, ... | | |
Jozef GeczThe University of AdelaideVerified email at adelaide.edu.au
