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Danya Vears
Danya Vears
在 unimelb.edu.au 的电子邮件经过验证
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引用次数
引用次数
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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
3042008
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
2542004
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
2232022
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
1882011
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
1482017
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
1432021
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
1232011
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
1232009
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
1202012
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
1122017
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
1072009
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
1062010
Expanded carrier screening for monogenic disorders: where are we now?
D Chokoshvili, D Vears, P Borry
Prenatal diagnosis 38 (1), 59-66, 2018
1032018
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
932017
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
872012
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
832019
‘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
752013
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
712018
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
702013
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
632019
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