| Year |
Citation |
Score |
| 2021 |
Wang Q, Dhindsa RS, Carss K, Harper AR, Nag A, Tachmazidou I, Vitsios D, Deevi SVV, Mackay A, Muthas D, Hühn M, Monkley S, Olsson H, Wasilewski S, ... ... Petrovski S, et al. Rare variant contribution to human disease in 281,104 UK Biobank exomes. Nature. PMID 34375979 DOI: 10.1038/s41586-021-03855-y |
0.314 |
|
| 2019 |
Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Perozo E, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, ... ... Petrovski S, et al. De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases. Human Mutation. PMID 31429998 DOI: 10.1002/Humu.23895 |
0.508 |
|
| 2019 |
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics. PMID 30827496 DOI: 10.1016/J.Ajhg.2019.01.010 |
0.321 |
|
| 2018 |
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, ... ... Petrovski S, et al. 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. PMID 30580808 DOI: 10.1016/J.Ajhg.2018.11.007 |
0.314 |
|
| 2017 |
Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand M, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, et al. Gain-of-function HCN2 variants in genetic epilepsy. Human Mutation. PMID 29064616 DOI: 10.1002/humu.23357 |
0.301 |
|
| 2017 |
Ogden KK, Chen W, Swanger SA, McDaniel MJ, Fan LZ, Hu C, Tankovic A, Kusumoto H, Kosobucki GJ, Schulien AJ, Su Z, Pecha J, Bhattacharya S, Petrovski S, Cohen AE, et al. Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. Plos Genetics. 13: e1006536. PMID 28095420 DOI: 10.1371/Journal.Pgen.1006536 |
0.487 |
|
| 2016 |
Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL, Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF, Yuan H. Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. American Journal of Human Genetics. PMID 27839871 DOI: 10.1016/J.Ajhg.2016.10.002 |
0.487 |
|
| 2016 |
Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. American Journal of Human Genetics. PMID 27108799 DOI: 10.1016/J.Ajhg.2016.03.011 |
0.327 |
|
| 2013 |
Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB. Genic intolerance to functional variation and the interpretation of personal genomes. Plos Genetics. 9: e1003709. PMID 23990802 DOI: 10.1371/journal.pgen.1003709 |
0.3 |
|
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