| De novo mutations in the classic epileptic encephalopathies EKE Investigators Nature 501 (7466), 217, 2013 | 1417* | 2013 |
| Analysis of shared heritability in common disorders of the brain V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ... Science 360 (6395), 2018 | 1364 | 2018 |
| 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 | 1009 | 2013 |
| Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 987 | 2015 |
| FinnGen provides genetic insights from a well-phenotyped isolated population MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, KM Donner, ... Nature 613 (7944), 508-518, 2023 | 723 | 2023 |
| Mapping the human genetic architecture of COVID-19 WW leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai Masahiro 2, ... Nature 600 (7889), 472-477, 2021 | 712 | 2021 |
| A cross-population atlas of genetic associations for 220 human phenotypes S Sakaue, M Kanai, Y Tanigawa, J Karjalainen, M Kurki, S Koshiba, ... Nature genetics 53 (10), 1415-1424, 2021 | 646 | 2021 |
| Analysis of shared heritability in common disorders of the brain Brainstorm Consortium Science (New York, NY) 360 (6395), 2018 | 646 | 2018 |
| Diagnostic utility of exome sequencing for kidney disease EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, VS Aggarwal, ... New England Journal of Medicine 380 (2), 142-151, 2019 | 589 | 2019 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 576 | 2018 |
| Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study S Petrovski, V Aggarwal, JL Giordano, M Stosic, K Wou, L Bier, E Spiegel, ... The Lancet 393 (10173), 758-767, 2019 | 489 | 2019 |
| Genetics of 35 blood and urine biomarkers in the UK Biobank N Sinnott-Armstrong, Y Tanigawa, D Amar, N Mars, C Benner, M Aguirre, ... Nature genetics 53 (2), 185-194, 2021 | 472 | 2021 |
| The COVID-19 host genetics initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic COVID-19 Host Genetics Initiative aganna@ broadinstitute. org European Journal of Human Genetics 28 (6), 715-718, 2020 | 457 | 2020 |
| Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study CD Whelan, A Altmann, JA Botía, N Jahanshad, DP Hibar, J Absil, ... Brain 141 (2), 391-408, 2018 | 409 | 2018 |
| Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu, K McSweeney, B Ben-Zeev, ... Genetics in Medicine 17 (10), 774-781, 2015 | 351 | 2015 |
| FinnGen: Unique genetic insights from combining isolated population and national health register data MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, K Donner, ... MedRxiv, 2022.03. 03.22271360, 2022 | 348 | 2022 |
| 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 | 316 | 2014 |
| Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers N Mars, JT Koskela, P Ripatti, TTJ Kiiskinen, AS Havulinna, JV Lindbohm, ... Nature medicine 26 (4), 549-557, 2020 | 313 | 2020 |
| Sequencing studies in human genetics: design and interpretation DB Goldstein, A Allen, J Keebler, EH Margulies, S Petrou, S Petrovski, ... Nature Reviews Genetics 14 (7), 460-470, 2013 | 300 | 2013 |
| Epilepsy Phenome/Genome Project, Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies EuroEPINOMICS-RES Consortium Am J Hum Genet 95 (4), 360-70, 2014 | 292* | 2014 |
Quanli WangAstraZenecaVerified email at astrazeneca.com
