Slovay Petrovski

Affiliations: 
University of Melbourne, Parkville, Victoria, Australia 
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Perucca P, Anderson A, Jazayeri D, et al. (2020) Antiepileptic drug teratogenicity and de novo genetic variation load. Annals of Neurology
Povysil G, Petrovski S, Hostyk J, et al. (2019) Rare-variant collapsing analyses for complex traits: guidelines and applications. Nature Reviews. Genetics
Li J, Zhang J, Tang W, et al. (2019) De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases. Human Mutation
Holt RJ, Young RM, Crespo B, et al. (2019) De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. American Journal of Human Genetics
Haijes HA, Koster MJE, Rehmann H, et al. (2019) De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. American Journal of Human Genetics
Cameron-Christie S, Wolock CJ, Groopman E, et al. (2019) Exome-Based Rare-Variant Analyses in CKD. Journal of the American Society of Nephrology : Jasn
Swaminathan AC, Neely ML, Frankel CW, et al. (2019) Lung Transplant Outcomes in Pulmonary Fibrosis Patients with Telomere-Related Gene Variants. Chest
Gelfman S, Dugger SA, Araujo Martins Moreno C, et al. (2019) A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. Genome Research
Cogné B, Ehresmann S, Beauregard-Lacroix E, et al. (2019) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics
Petrovski S, Aggarwal V, Giordano JL, et al. (2019) Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet (London, England)
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