Slavé Petrovski
Title
Cited by
Cited by
Year
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
11232018
De novo mutations in the classic epileptic encephalopathies
Epi4K and EPGP Investigators
Nature 501 (7466), 217, 2013
8822013
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
8452013
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
7712015
De novo mutations in epileptic encephalopathies
KC Epi, PE Phenome, AS Allen, SF Berkovic, P Cossette, N Delanty, ...
Nature 501 (7466), 217-221, 2013
4982013
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
366*2014
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
3182018
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
2682013
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu, KM McSweeney, B Ben-Zeev, ...
Genetics in Medicine 17 (10), 774-781, 2015
2652015
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
2612019
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
2332019
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
CJ Milligan, M Li, EV Gazina, SE Heron, U Nair, C Trager, CA Reid, ...
Annals of neurology 75 (4), 581-590, 2014
2142014
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
European Journal of Human Genetics 28 (6), 715, 2020
1952020
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
1832016
Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
RD Bagnall, DE Crompton, S Petrovski, L Lam, C Cutmore, SI Garry, ...
Annals of neurology 79 (4), 522-534, 2016
1822016
Quinidine in the treatment of KCNT 1‐positive epilepsies
MA Mikati, Y Jiang, M Carboni, V Shashi, S Petrovski, R Spillmann, ...
Annals of neurology 78 (6), 995-999, 2015
1572015
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
D Kasperavičiūtė, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, ...
Brain 136 (10), 3140-3150, 2013
1542013
Neuropsychiatric symptomatology predicts seizure recurrence in newly treated patients
S Petrovski, CEI Szoeke, NC Jones, MR Salzberg, LJ Sheffield, ...
Neurology 75 (11), 1015-1021, 2010
1522010
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
X Zhu, AC Need, S Petrovski, DB Goldstein
Nature neuroscience 17 (6), 773-781, 2014
1482014
An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis
S Petrovski, JL Todd, MT Durheim, Q Wang, JW Chien, FL Kelly, ...
American journal of respiratory and critical care medicine 196 (1), 82-93, 2017
1412017
The system can't perform the operation now. Try again later.
Articles 1–20