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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
1412*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
13512018
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
10072013
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
9842015
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
7002021
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
6632023
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium
Science (New York, NY) 360 (6395), 2018
6392018
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
6112021
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
5822019
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
5702018
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
4872019
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
4642021
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
4562020
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
4012018
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
3492015
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
3442022
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
3162014
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
3112020
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
2992013
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
290*2014
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