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Slavé Petrovski
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De novo mutations in the classic epileptic encephalopathies
EKE Investigators
Nature 501 (7466), 217, 2013
1419*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
13692018
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
10102013
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
9872015
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
7372023
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
7162021
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
6502021
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium
Science (New York, NY) 360 (6395), 2018
6442018
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
5922019
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
5762018
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
4902019
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
4732021
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
4572020
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
4122018
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
3532015
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
3482022
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
3172014
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
3152020
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
3002013
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
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