Petrovski S - Search Results

1

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning.

Vitsios D, Dhindsa RS, Middleton L, Gussow AB, Petrovski S. Vitsios D, et al. Among authors: petrovski s. Nat Commun. 2021 Mar 8;12(1):1504. doi: 10.1038/s41467-021-21790-4. Nat Commun. 2021. PMID: 33686085 Free PMC article.

2

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Zhu X, et al. Among authors: petrovski s. Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590979 Free PMC article.

3

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.

Petrovski S, Gussow AB, Wang Q, Halvorsen M, Han Y, Weir WH, Allen AS, Goldstein DB. Petrovski S, et al. PLoS Genet. 2015 Sep 2;11(9):e1005492. doi: 10.1371/journal.pgen.1005492. eCollection 2015 Sep. PLoS Genet. 2015. PMID: 26332131 Free PMC article.

4

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.

Gussow AB, Petrovski S, Wang Q, Allen AS, Goldstein DB. Gussow AB, et al. Among authors: petrovski s. Genome Biol. 2016 Jan 18;17:9. doi: 10.1186/s13059-016-0869-4. Genome Biol. 2016. PMID: 26781712 Free PMC article.

5

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Dhindsa RS, Bradrick SS, Yao X, Heinzen EL, Petrovski S, Krueger BJ, Johnson MR, Frankel WN, Petrou S, Boumil RM, Goldstein DB. Dhindsa RS, et al. Among authors: petrovski s. Neurol Genet. 2015 Apr 17;1(1):e4. doi: 10.1212/01.NXG.0000464295.65736.da. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066543 Free PMC article.

6

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Petrovski S, et al. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148561 Free PMC article.

7

Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks.

McSweeney KM, Gussow AB, Bradrick SS, Dugger SA, Gelfman S, Wang Q, Petrovski S, Frankel WN, Boland MJ, Goldstein DB. McSweeney KM, et al. Among authors: petrovski s. Genome Res. 2016 Oct;26(10):1411-1416. doi: 10.1101/gr.199828.115. Epub 2016 Aug 11. Genome Res. 2016. PMID: 27516621 Free PMC article.

8

Annotating pathogenic non-coding variants in genic regions.

Gelfman S, Wang Q, McSweeney KM, Ren Z, La Carpia F, Halvorsen M, Schoch K, Ratzon F, Heinzen EL, Boland MJ, Petrovski S, Goldstein DB. Gelfman S, et al. Among authors: petrovski s. Nat Commun. 2017 Aug 9;8(1):236. doi: 10.1038/s41467-017-00141-2. Nat Commun. 2017. PMID: 28794409 Free PMC article.

9

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.

Gussow AB, Copeland BR, Dhindsa RS, Wang Q, Petrovski S, Majoros WH, Allen AS, Goldstein DB. Gussow AB, et al. Among authors: petrovski s. PLoS One. 2017 Aug 10;12(8):e0181604. doi: 10.1371/journal.pone.0181604. eCollection 2017. PLoS One. 2017. PMID: 28797091 Free PMC article.

10

Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics.

Gussow AB, Copeland BR, Dhindsa RS, Wang Q, Petrovski S, Majoros WH, Allen AS, Goldstein DB. Gussow AB, et al. Among authors: petrovski s. PLoS One. 2018 Jan 11;13(1):e0191298. doi: 10.1371/journal.pone.0191298. eCollection 2018. PLoS One. 2018. PMID: 29324863 Free PMC article.

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