Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis SF Berkovic, LM Dibbens, A Oshlack, JD Silver, M Katerelos, DF Vears, ... The American Journal of Human Genetics 82 (3), 673-684, 2008 | 304 | 2008 |
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy NCK Tan, SE Heron, IE Scheffer, JT Pelekanos, JM McMahon, DF Vears, ... Neurology 63 (6), 1090-1092, 2004 | 254 | 2004 |
Inductive content analysis: A guide for beginning qualitative researchers DF Vears, L Gillam Focus on Health Professional Education: A Multi-Professional Journal 23 (1 …, 2022 | 223 | 2022 |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 T Arsov, KR Smith, J Damiano, S Franceschetti, L Canafoglia, ... The American Journal of Human Genetics 88 (5), 566-573, 2011 | 188 | 2011 |
Genetic epilepsy with febrile seizures plus: Refining the spectrum YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ... Neurology 89 (12), 1210-1219, 2017 | 148 | 2017 |
GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 143 | 2021 |
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia MA Corbett, M Schwake, M Bahlo, LM Dibbens, M Lin, LC Gandolfo, ... The American Journal of Human Genetics 88 (5), 657-663, 2011 | 123 | 2011 |
Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS LM Lillywhite, MM Saling, A Simon Harvey, DF Abbott, JS Archer, ... Epilepsia 50 (10), 2276-2284, 2009 | 123 | 2009 |
Efficacy of the ketogenic diet: which epilepsies respond? S Thammongkol, DF Vears, J Bicknell‐Royle, J Nation, K Draffin, ... Epilepsia 53 (3), e55-e59, 2012 | 120 | 2012 |
Genomic newborn screening: public health policy considerations and recommendations JM Friedman, MC Cornel, AJ Goldenberg, KJ Lister, K Sénécal, DF Vears BMC medical genomics 10, 1-13, 2017 | 112 | 2017 |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure LM Dibbens, R Michelucci, A Gambardella, F Andermann, G Rubboli, ... Annals of neurology 66 (4), 532-536, 2009 | 107 | 2009 |
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance DE Crompton, IE Scheffer, I Taylor, MJ Cook, PA McKelvie, DF Vears, ... Brain 133 (11), 3221-3231, 2010 | 106 | 2010 |
Expanded carrier screening for monogenic disorders: where are we now? D Chokoshvili, D Vears, P Borry Prenatal diagnosis 38 (1), 59-66, 2018 | 103 | 2018 |
Reporting practices for variants of uncertain significance from next generation sequencing technologies DF Vears, K Sénécal, P Borry European journal of medical genetics 60 (10), 553-558, 2017 | 93 | 2017 |
Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes DF Vears, MH Tsai, LG Sadleir, BE Grinton, LM Lillywhite, PW Carney, ... Epilepsia 53 (2), 319-324, 2012 | 87 | 2012 |
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia R Milne, KI Morley, H Howard, E Niemiec, D Nicol, C Critchley, ... Human genetics 138, 1237-1246, 2019 | 83 | 2019 |
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation L Boissé Lomax, MA Bayly, H Hjalgrim, RS Møller, AM Vlaar, KM Aaberg, ... Brain 136 (4), 1146-1154, 2013 | 75 | 2013 |
The challenges of the expanded availability of genomic information: an agenda-setting paper P Borry, HB Bentzen, I Budin-Ljøsne, MC Cornel, HC Howard, O Feeney, ... Journal of community genetics 9, 103-116, 2018 | 71 | 2018 |
Clinical genetic study of the epilepsy‐aphasia spectrum MH Tsai, DF Vears, SJ Turner, RL Smith, SF Berkovic, LG Sadleir, ... Epilepsia 54 (2), 280-287, 2013 | 70 | 2013 |
Attitudes of publics who are unwilling to donate DNA data for research A Middleton, R Milne, A Thorogood, E Kleiderman, E Niemiec, ... European journal of medical genetics 62 (5), 316-323, 2019 | 63 | 2019 |