Articles with public access mandates - gemma carvillLearn more
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Epigenetic genes and epilepsy—emerging mechanisms and clinical applications
KMJ Van Loo, GL Carvill, AJ Becker, K Conboy, AM Goldman, K Kobow, ...
Nature Reviews Neurology 18 (9), 530-543, 2022
Mandates: German Research Foundation, Science Foundation Ireland, European Commission
Available somewhere: 63
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
Mandates: US National Institutes of Health, Howard Hughes Medical Institute
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ...
Nature genetics 45 (7), 825-830, 2013
Mandates: US National Institutes of Health, National Health and Medical Research …
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535-543, 2009
Mandates: US National Institutes of Health, Cancer Research UK
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ...
Nature genetics 45 (9), 1073-1076, 2013
Mandates: US National Institutes of Health, National Health and Medical Research …
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ...
Neurology 82 (14), 1245-1253, 2014
Mandates: US National Institutes of Health, National Health and Medical Research …
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
Mandates: US National Institutes of Health, National Health and Medical Research …
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ...
Human molecular genetics 23 (12), 3200-3211, 2014
Mandates: US National Institutes of Health, UK Medical Research Council, National …
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies
CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ...
The American Journal of Human Genetics 99 (2), 287-298, 2016
Mandates: US National Institutes of Health
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
KB Howell, JM McMahon, GL Carvill, D Tambunan, MT Mackay, ...
Neurology 85 (11), 958-966, 2015
Mandates: US National Institutes of Health, National Health and Medical Research …
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ...
The American Journal of Human Genetics 96 (5), 808-815, 2015
Mandates: US National Institutes of Health, National Health and Medical Research …
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
SA Mullen, GL Carvill, S Bellows, MA Bayly, SF Berkovic, LM Dibbens, ...
Neurology 81 (17), 1507-1514, 2013
Mandates: US National Institutes of Health, National Health and Medical Research …
Mutations in KCNT1 cause a spectrum of focal epilepsies
RS Møller, SE Heron, LHG Larsen, CX Lim, MG Ricos, MA Bayly, ...
Epilepsia 56 (9), e114-e120, 2015
Mandates: US National Institutes of Health, National Health and Medical Research …
Parental mosaicism in “de novo” epileptic encephalopathies
CT Myers, G Hollingsworth, AM Muir, AL Schneider, Z Thuesmunn, ...
New England Journal of Medicine 378 (17), 1646-1648, 2018
Mandates: US National Institutes of Health, National Health and Medical Research …
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
Mandates: US National Institutes of Health, National Health and Medical Research …
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
N Di Donato, AE Timms, KA Aldinger, GM Mirzaa, JT Bennett, S Collins, ...
Genetics in Medicine 20 (11), 1354-1364, 2018
Mandates: US National Institutes of Health, German Research Foundation
Defining the phenotypic spectrum of SLC6A1 mutations
KM Johannesen, E Gardella, T Linnankivi, C Courage, A de Saint Martin, ...
Epilepsia 59 (2), 389-402, 2018
Mandates: Swiss National Science Foundation, US National Institutes of Health, German …
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
MA Corbett, ST Bellows, M Li, R Carroll, S Micallef, GL Carvill, CT Myers, ...
Neurology 87 (19), 1975-1984, 2016
Mandates: US National Institutes of Health, National Health and Medical Research …
Aberrant inclusion of a poison exon causes Dravet syndrome and related SCN1A-associated genetic epilepsies
GL Carvill, KL Engel, A Ramamurthy, JN Cochran, J Roovers, ...
The American Journal of Human Genetics 103 (6), 1022-1029, 2018
Mandates: US National Institutes of Health, National Health and Medical Research …
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