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Items: 17

1.

Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration.

Voigt AP, Mulfaul K, Mullin NK, Flamme-Wiese MJ, Giacalone JC, Stone EM, Tucker BA, Scheetz TE, Mullins RF.

Proc Natl Acad Sci U S A. 2019 Nov 26;116(48):24100-24107. doi: 10.1073/pnas.1914143116. Epub 2019 Nov 11.

2.

Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-Associated X-Linked Retinitis Pigmentosa.

Giacalone JC, Andorf JL, Zhang Q, Burnight ER, Ochoa D, Reutzel AJ, Collins MM, Sheffield VC, Mullins RF, Han IC, Stone EM, Tucker BA.

Hum Gene Ther. 2019 Aug;30(8):967-974. doi: 10.1089/hum.2018.244.

PMID:
31106594
3.

Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.

Bohrer LR, Wiley LA, Burnight ER, Cooke JA, Giacalone JC, Anfinson KR, Andorf JL, Mullins RF, Stone EM, Tucker BA.

Genes (Basel). 2019 Apr 5;10(4). pii: E278. doi: 10.3390/genes10040278.

4.

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Zhang Q, Giacalone JC, Searby C, Stone EM, Tucker BA, Sheffield VC.

Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1353-1360. doi: 10.1073/pnas.1817639116. Epub 2019 Jan 8.

5.

Generation of an immortalized human choroid endothelial cell line (iChEC-1) using an endothelial cell specific promoter.

Giacalone JC, Miller MJ, Workalemahu G, Reutzel AJ, Ochoa D, Whitmore SS, Stone EM, Tucker BA, Mullins RF.

Microvasc Res. 2019 May;123:50-57. doi: 10.1016/j.mvr.2018.12.002. Epub 2018 Dec 18.

PMID:
30571950
6.

Visible spectroscopy diagnostics for tungsten source assessment in the WEST tokamak: First measurements.

Meyer O, Giacalone JC, Gouin A, Pascal JY, Klepper CC, Fedorczak N, Lotte P, Unterberg EA, Fehling DT, Harris JH; WEST Team.

Rev Sci Instrum. 2018 Oct;89(10):10D105. doi: 10.1063/1.5035566.

PMID:
30399672
7.

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

Burnight ER, Giacalone JC, Cooke JA, Thompson JR, Bohrer LR, Chirco KR, Drack AV, Fingert JH, Worthington KS, Wiley LA, Mullins RF, Stone EM, Tucker BA.

Prog Retin Eye Res. 2018 Jul;65:28-49. doi: 10.1016/j.preteyeres.2018.03.003. Epub 2018 Mar 22. Review.

PMID:
29578069
8.

CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells.

Giacalone JC, Sharma TP, Burnight ER, Fingert JF, Mullins RF, Stone EM, Tucker BA.

Curr Protoc Stem Cell Biol. 2018 Feb 28;44:5B.7.1-5B.7.22. doi: 10.1002/cpsc.46.

9.

CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease.

Burnight ER, Bohrer LR, Giacalone JC, Klaahsen DL, Daggett HT, East JS, Madumba RA, Worthington KS, Mullins RF, Stone EM, Tucker BA, Wiley LA.

CRISPR J. 2018 Feb;1:75-87. doi: 10.1089/crispr.2017.0015.

10.

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA.

Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.

11.

Connective Tissue Growth Factor Promotes Efficient Generation of Human Induced Pluripotent Stem Cell-Derived Choroidal Endothelium.

Songstad AE, Worthington KS, Chirco KR, Giacalone JC, Whitmore SS, Anfinson KR, Ochoa D, Cranston CM, Riker MJ, Neiman M, Stone EM, Mullins RF, Tucker BA.

Stem Cells Transl Med. 2017 Jun;6(6):1533-1546. doi: 10.1002/sctm.16-0399. Epub 2017 May 5.

12.

Choosing surgery as a career: Early results of a longitudinal study of medical students.

Berger AP, Giacalone JC, Barlow P, Kapadia MR, Keith JN.

Surgery. 2017 Jun;161(6):1683-1689. doi: 10.1016/j.surg.2016.12.016. Epub 2017 Feb 1.

PMID:
28161006
13.

Development of visible spectroscopy diagnostics for W sources assessment in WEST.

Meyer O, Jones OM, Giacalone JC, Pascal JY, Raulin D, Xu H, Aumeunier MH, Baude R, Escarguel A, Gil C, Harris JH, Hatchressian JC, Klepper CC, Larroque S, Lotte P, Moreau P, Pégourié B, Vartanian S.

Rev Sci Instrum. 2016 Nov;87(11):11E309.

PMID:
27910500
14.

Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease.

Giacalone JC, Wiley LA, Burnight ER, Songstad AE, Mullins RF, Stone EM, Tucker BA.

Stem Cells Transl Med. 2016 Feb;5(2):132-40. doi: 10.5966/sctm.2015-0206. Epub 2015 Dec 18. Review.

15.

Prospective, multicenter study of ventricular assist device infections.

Gordon RJ, Weinberg AD, Pagani FD, Slaughter MS, Pappas PS, Naka Y, Goldstein DJ, Dembitsky WP, Giacalone JC, Ferrante J, Ascheim DD, Moskowitz AJ, Rose EA, Gelijns AC, Lowy FD; Ventricular Assist Device Infection Study Group.

Circulation. 2013 Feb 12;127(6):691-702. doi: 10.1161/CIRCULATIONAHA.112.128132. Epub 2013 Jan 11.

16.

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW.

Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022.

17.

Staphylococcus epidermidis colonization is highly clonal across US cardiac centers.

Gordon RJ, Miragaia M, Weinberg AD, Lee CJ, Rolo J, Giacalone JC, Slaughter MS, Pappas P, Naka Y, Tector AJ, de Lencastre H, Lowy FD.

J Infect Dis. 2012 May 1;205(9):1391-8. doi: 10.1093/infdis/jis218. Epub 2012 Mar 29.

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