Slovay Petrovski
Affiliations: | University of Melbourne, Parkville, Victoria, Australia |
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| Wang Q, Dhindsa RS, Carss K, et al. (2021) Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature |
| 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 |
| 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 |
| Machol K, Rousseau J, Ehresmann S, et al. (2018) Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. American Journal of Human Genetics |
| Li M, Maljevic S, Phillips AM, et al. (2017) Gain-of-function HCN2 variants in genetic epilepsy. Human Mutation |
| Ogden KK, Chen W, Swanger SA, et al. (2017) Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. Plos Genetics. 13: e1006536 |
| Swanger SA, Chen W, Wells G, et al. (2016) Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. American Journal of Human Genetics |
| Petrovski S, Küry S, Myers CT, et al. (2016) Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. American Journal of Human Genetics |
| Petrovski S, Wang Q, Heinzen EL, et al. (2013) Genic intolerance to functional variation and the interpretation of personal genomes. Plos Genetics. 9: e1003709 |