| 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 | 1462 | 2012 |
| 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 | 757 | 2013 |
| 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 | 708 | 2009 |
| 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 | 699 | 2014 |
| 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 | 445 | 2013 |
| 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 | 326 | 2014 |
| The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 307 | 2015 |
| 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 | 292 | 2014 |
| 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 | 275 | 2016 |
| 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 | 268 | 2015 |
| 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 | 234 | 2015 |
| 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 | 185 | 2013 |
| 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 | 170 | 2015 |
| 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 | 147 | 2018 |
| 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 | 139 | 2018 |
| 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 | 139 | 2017 |
| 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 | 138 | 2018 |
| A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy KB Howell, S Eggers, K Dalziel, J Riseley, S Mandelstam, CT Myers, ... Epilepsia 59 (6), 1177-1187, 2018 | 122 | 2018 |
| Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy R Truty, N Patil, R Sankar, J Sullivan, J Millichap, G Carvill, A Entezam, ... Epilepsia open 4 (3), 397-408, 2019 | 120 | 2019 |
| 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 | 116 | 2018 |
