| Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance D Ge, J Fellay, AJ Thompson, JS Simon, KV Shianna, TJ Urban, ... Nature 461 (7262), 399-401, 2009 | 4522 | 2009 |
| De novo mutations in epileptic encephalopathies Nature 501 (7466), 217-221, 2013 | 1487* | 2013 |
| Analysis of shared heritability in common disorders of the brain Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ... Science 360 (6395), eaap8757, 2018 | 1390 | 2018 |
| HLA-A* 3101 and carbamazepine-induced hypersensitivity reactions in Europeans M McCormack, A Alfirevic, S Bourgeois, JJ Farrell, D Kasperavičiūtė, ... New England Journal of Medicine 364 (12), 1134-1143, 2011 | 1088 | 2011 |
| Genic intolerance to functional variation and the interpretation of personal genomes S Petrovski, Q Wang, EL Heinzen, AS Allen, DB Goldstein PLoS genetics 9 (8), e1003709, 2013 | 1018 | 2013 |
| A genome-wide investigation of SNPs and CNVs in schizophrenia AC Need, D Ge, ME Weale, J Maia, S Feng, EL Heinzen, KV Shianna, ... PLoS genetics 5 (2), e1000373, 2009 | 562 | 2009 |
| Somatic activation of AKT3 causes hemispheric developmental brain malformations A Poduri, GD Evrony, X Cai, PC Elhosary, R Beroukhim, MK Lehtinen, ... Neuron 74 (1), 41-48, 2012 | 492 | 2012 |
| De novo mutations in ATP1A3 cause alternating hemiplegia of childhood EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ... Nature genetics 44 (9), 1030-1034, 2012 | 409 | 2012 |
| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 319 | 2014 |
| Tissue-specific genetic control of splicing: implications for the study of complex traits EL Heinzen, D Ge, KD Cronin, JM Maia, KV Shianna, WN Gabriel, ... PLoS biology 6 (12), e1000001, 2008 | 310 | 2008 |
| Rare deletions at 16p13. 11 predispose to a diverse spectrum of sporadic epilepsy syndromes EL Heinzen, RA Radtke, TJ Urban, GL Cavalleri, C Depondt, AC Need, ... The American Journal of Human Genetics 86 (5), 707-718, 2010 | 279 | 2010 |
| 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 | 253 | 2016 |
| Distinct neurological disorders with ATP1A3 mutations EL Heinzen, A Arzimanoglou, A Brashear, SJ Clapcote, F Gurrieri, ... The Lancet Neurology 13 (5), 503-514, 2014 | 238 | 2014 |
| Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 235 | 2019 |
| Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome MC Manzini, DE Tambunan, RS Hill, WY Tim, TM Maynard, EL Heinzen, ... The American Journal of Human Genetics 91 (3), 541-547, 2012 | 210 | 2012 |
| A roadmap for precision medicine in the epilepsies EpiPM Consortium The Lancet Neurology 14 (12), 1219-1228, 2015 | 205 | 2015 |
| The copy number variation landscape of congenital anomalies of the kidney and urinary tract M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ... Nature genetics 51 (1), 117-127, 2019 | 198 | 2019 |
| The characterization of twenty sequenced human genomes K Pelak, KV Shianna, D Ge, JM Maia, M Zhu, JP Smith, ET Cirulli, J Fellay, ... PLoS genetics 6 (9), e1001111, 2010 | 198 | 2010 |
| Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals M Rotger, KK Dang, J Fellay, EL Heinzen, S Feng, P Descombes, ... PLoS pathogens 6 (2), e1000781, 2010 | 192 | 2010 |
| Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study D Kasperavičiūtė, CB Catarino, EL Heinzen, C Depondt, GL Cavalleri, ... Brain 133 (7), 2136-2147, 2010 | 181 | 2010 |
