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Items: 1 to 50 of 126

1.

MTR-Viewer: identifying regions within genes under purifying selection.

Silk M, Petrovski S, Ascher DB.

Nucleic Acids Res. 2019 Jun 6. pii: gkz457. doi: 10.1093/nar/gkz457. [Epub ahead of print]

PMID:
31170280
2.

Exome-Based Rare-Variant Analyses in CKD.

Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG.

J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13.

PMID:
31085678
3.

Lung Transplant Outcomes in Patients With Pulmonary Fibrosis With Telomere-Related Gene Variants.

Swaminathan AC, Neely ML, Frankel CW, Kelly FL, Petrovski S, Durheim MT, Bush E, Snyder L, Goldstein DB, Todd JL, Palmer SM.

Chest. 2019 Apr 9. pii: S0012-3692(19)30819-0. doi: 10.1016/j.chest.2019.03.030. [Epub ahead of print]

PMID:
30978332
4.

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.

Gelfman S, Dugger S, de Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider NA, Phatnani H, Cirulli ET, Lasseigne BN, Harris T, Maniatis T, Rouleau GA, Brown RH Jr, Gitler AD, Myers RM, Petrovski S, Allen A, Goldstein DB, Harms MB.

Genome Res. 2019 May;29(5):809-818. doi: 10.1101/gr.243592.118. Epub 2019 Apr 2.

PMID:
30940688
5.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

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, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

PMID:
30827496
6.

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ.

Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.

PMID:
30712878
7.

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S.

Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

8.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

PMID:
30586318
9.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

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, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network, Campeau PM.

Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.

10.

Adaptation to dynamic faces produces face identity aftereffects.

Petrovski S, Rhodes G, Jeffery L.

J Vis. 2018 Dec 3;18(13):13. doi: 10.1167/18.13.13.

PMID:
30572341
11.

Isolation and characterization of bacteriophage NTR1 infectious for Nocardia transvalensis and other Nocardia species.

Taylor S, Brown TL, Tucci J, Lock P, Seviour RJ, Petrovski S.

Virus Genes. 2019 Apr;55(2):257-265. doi: 10.1007/s11262-018-1625-5. Epub 2018 Dec 17.

PMID:
30560472
12.

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays.

Gelfman S, Wang Q, Lu YF, Hall D, Bostick CD, Dhindsa R, Halvorsen M, McSweeney KM, Cotterill E, Edinburgh T, Beaumont MA, Frankel WN, Petrovski S, Allen AS, Boland MJ, Goldstein DB, Eglen SJ.

PLoS Comput Biol. 2018 Oct 1;14(10):e1006506. doi: 10.1371/journal.pcbi.1006506. eCollection 2018 Oct.

13.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study, Goldstein DB, Anyane-Yeboa K.

Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8.

PMID:
30194818
14.

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R; Alzheimer's Disease Sequencing Project.

Ann Clin Transl Neurol. 2018 May 24;5(7):832-842. doi: 10.1002/acn3.582. eCollection 2018 Jul. Erratum in: Ann Clin Transl Neurol. 2019 Feb 25;6(2):416.

15.

Influence of the Type and Amount of Liver Resection on the Survival of the Patients with Colorectal Metastases.

Petrovski S, Karakolevska-Ilova M, Simeonovska-Joveva E, Serafimov A, Adzi-Andov L, Dimitrova V.

Open Access Maced J Med Sci. 2018 Jun 9;6(6):1046-1051. doi: 10.3889/oamjms.2018.116. eCollection 2018 Jun 20.

16.

A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy.

Atkin TA, Maher CM, Gerlach AC, Gay BC, Antonio BM, Santos SC, Padilla KM, Rader J, Krafte DS, Fox MA, Stewart GR, Petrovski S, Devinsky O, Might M, Petrou S, Goldstein DB.

Epilepsia. 2018 Apr;59(4):802-813. doi: 10.1111/epi.14037. Epub 2018 Mar 25.

17.

Semi-Solid and Solid Dosage Forms for the Delivery of Phage Therapy to Epithelia.

Brown TL, Petrovski S, Chan HT, Angove MJ, Tucci J.

Pharmaceuticals (Basel). 2018 Feb 26;11(1). pii: E26. doi: 10.3390/ph11010026. Review.

18.

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.

PLoS One. 2018 Jan 11;13(1):e0191298. doi: 10.1371/journal.pone.0191298. eCollection 2018.

19.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

20.

Gain-of-function HCN2 variants in genetic epilepsy.

Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13.

PMID:
29064616
21.

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K.

Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22.

PMID:
28941020
22.

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J, Silk M, Wang Q, Berkovic SF, Liu L, Ascher DB, Balding DJ, Petrovski S.

Genome Res. 2017 Oct;27(10):1715-1729. doi: 10.1101/gr.226589.117. Epub 2017 Sep 1.

23.

Characterization and formulation into solid dosage forms of a novel bacteriophage lytic against Klebsiella oxytoca.

Brown TL, Petrovski S, Hoyle D, Chan HT, Lock P, Tucci J.

PLoS One. 2017 Aug 17;12(8):e0183510. doi: 10.1371/journal.pone.0183510. eCollection 2017.

24.

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.

PLoS One. 2017 Aug 10;12(8):e0181604. doi: 10.1371/journal.pone.0181604. eCollection 2017. Erratum in: PLoS One. 2018 Jan 11;13(1):e0191298.

25.

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.

Nat Commun. 2017 Aug 9;8(1):236. doi: 10.1038/s41467-017-00141-2.

26.

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA, Petrovski S, Oliver KL, Berkovic SF.

Neurol Genet. 2017 Jul 6;3(4):e163. doi: 10.1212/NXG.0000000000000163. eCollection 2017 Aug.

27.

Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain.

Casillas-Espinosa PM, Powell KL, Zhu M, Campbell CR, Maia JM, Ren Z, Jones NC, O'Brien TJ, Petrovski S.

PLoS One. 2017 Jul 14;12(7):e0179924. doi: 10.1371/journal.pone.0179924. eCollection 2017.

28.

Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

McGlade A, Myers KA, Berkovic SF, Scheffer IE, Petrovski S, Hildebrand MS.

Ann Clin Transl Neurol. 2017 Mar 23;4(4):276-277. doi: 10.1002/acn3.401. eCollection 2017 Apr. No abstract available.

29.

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

Petrovski S, Todd JL, Durheim MT, Wang Q, Chien JW, Kelly FL, Frankel C, Mebane CM, Ren Z, Bridgers J, Urban TJ, Malone CD, Finlen Copeland A, Brinkley C, Allen AS, O'Riordan T, McHutchison JG, Palmer SM, Goldstein DB.

Am J Respir Crit Care Med. 2017 Jul 1;196(1):82-93. doi: 10.1164/rccm.201610-2088OC.

30.

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

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, Aizenman E, Traynelis SF, Yuan H.

PLoS Genet. 2017 Jan 17;13(1):e1006536. doi: 10.1371/journal.pgen.1006536. eCollection 2017 Jan.

31.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. No abstract available.

32.

Bacteriophage formulated into a range of semisolid and solid dosage forms maintain lytic capacity against isolated cutaneous and opportunistic oral bacteria.

Brown TL, Thomas T, Odgers J, Petrovski S, Spark MJ, Tucci J.

J Pharm Pharmacol. 2017 Mar;69(3):244-253. doi: 10.1111/jphp.12673. Epub 2016 Dec 29.

PMID:
28033675
33.

The importance of dynamic re-analysis in diagnostic whole exome sequencing.

Need AC, Shashi V, Schoch K, Petrovski S, Goldstein DB.

J Med Genet. 2017 Mar;54(3):155-156. doi: 10.1136/jmedgenet-2016-104306. Epub 2016 Nov 29. No abstract available.

34.

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

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.

Am J Hum Genet. 2016 Dec 1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10.

35.

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KL, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS.

Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25.

PMID:
27810516
36.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

37.

Dynamic interactions between prophages induce lysis in Propionibacterium acnes.

L Brown T, Tucci J, Dyson ZA, Lock P, Adda CG, Petrovski S.

Res Microbiol. 2017 Feb - Mar;168(2):103-112. doi: 10.1016/j.resmic.2016.09.004. Epub 2016 Sep 14.

PMID:
27639668
38.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE.

Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18.

39.

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.

Genome Res. 2016 Oct;26(10):1411-1416. Epub 2016 Aug 11.

40.

Locating and Activating Molecular 'Time Bombs': Induction of Mycolata Prophages.

Dyson ZA, Brown TL, Farrar B, Doyle SR, Tucci J, Seviour RJ, Petrovski S.

PLoS One. 2016 Aug 3;11(8):e0159957. doi: 10.1371/journal.pone.0159957. eCollection 2016.

41.
42.

Genome Sequences of Pseudomonas oryzihabitans Phage POR1 and Pseudomonas aeruginosa Phage PAE1.

Dyson ZA, Seviour RJ, Tucci J, Petrovski S.

Genome Announc. 2016 Jun 16;4(3). pii: e01515-15. doi: 10.1128/genomeA.01515-15.

43.

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000265. doi: 10.1101/mcs.a000265.

44.

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.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257.

45.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

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, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

46.

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Petrovski S, Parrott RE, Roberts JL, Huang H, Yang J, Gorentla B, Mousallem T, Wang E, Armstrong M, McHale D, MacIver NJ, Goldstein DB, Zhong XP, Buckley RH.

J Clin Immunol. 2016 Jul;36(5):462-71. doi: 10.1007/s10875-016-0281-6. Epub 2016 Apr 13.

47.

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.

Neurol Genet. 2015 Apr 17;1(1):e4. doi: 10.1212/01.NXG.0000464295.65736.da. eCollection 2015 Jun.

48.

The Formulation of Bacteriophage in a Semi Solid Preparation for Control of Propionibacterium acnes Growth.

Brown TL, Petrovski S, Dyson ZA, Seviour R, Tucci J.

PLoS One. 2016 Mar 10;11(3):e0151184. doi: 10.1371/journal.pone.0151184. eCollection 2016.

49.

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.

Genome Biol. 2016 Jan 18;17:9. doi: 10.1186/s13059-016-0869-4.

50.

Mosaic mutations in early-onset genetic diseases.

Halvorsen M, Petrovski S, Shellhaas R, Tang Y, Crandall L, Goldstein D, Devinsky O.

Genet Med. 2016 Jul;18(7):746-9. doi: 10.1038/gim.2015.155. Epub 2015 Dec 30.

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