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Slavé Petrovski
Slavé Petrovski
在 unimelb.edu.au 的电子邮件经过验证
标题
引用次数
引用次数
年份
De novo mutations in the classic epileptic encephalopathies
EKE Investigators
Nature 501 (7466), 217, 2013
1474*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
13792018
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
10882023
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
10212013
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
10092015
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
8452021
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
7482021
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium
Science (New York, NY) 360 (6395), 2018
6692018
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
6242019
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), 1267-1288, 2018
5992018
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
5252019
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
5132021
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
4702020
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
4312018
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
3962022
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
3642015
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
3332020
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
3202014
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
3042013
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
JD Szustakowski, S Balasubramanian, E Kvikstad, S Khalid, PG Bronson, ...
Nature genetics 53 (7), 942-948, 2021
3012021
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