Slavé Petrovski
TitleCited byYear
De novo mutations in epileptic encephalopathies
AS Allen, SF Berkovic, P Cossette, N Delanty, D Dlugos, EE Eichler, ...
Nature 501 (7466), 217, 2013
6232013
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
6112013
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
4932015
De novo mutations in epileptic encephalopathies
KC Epi, PE Phenome, AS Allen, SF Berkovic, P Cossette, N Delanty, ...
Nature 501 (7466), 217-221, 2013
3612013
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), eaap8757, 2018
3282018
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
269*2014
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, 2013
2172013
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, 2015
1832015
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
1462014
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
1122010
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
1072013
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
992015
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
X Zhu, AC Need, S Petrovski, DB Goldstein
Nature neuroscience 17 (6), 773, 2014
942014
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
922016
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
892016
A genome-wide comparison of the functional properties of rare and common genetic variants in humans
Q Zhu, D Ge, JM Maia, M Zhu, S Petrovski, SP Dickson, EL Heinzen, ...
The American Journal of Human Genetics 88 (4), 458-468, 2011
892011
Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population
S Petrovski, J Fellay, KV Shianna, N Carpenetti, J Kumwenda, ...
AIDS (London, England) 25 (4), 513, 2011
822011
Inherited DOCK2 deficiency in patients with early-onset invasive infections
K Dobbs, C Domínguez Conde, SY Zhang, S Parolini, M Audry, J Chou, ...
New England Journal of Medicine 372 (25), 2409-2422, 2015
812015
Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus
MR Johnson, J Behmoaras, L Bottolo, ML Krishnan, K Pernhorst, ...
Nature communications 6, 6031, 2015
802015
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
782018
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Articles 1–20