Publications

The following are recent publications from the members of this lab. Click on the title of a publication to read its abstract, or follow the Pubmed ID link to view the Pubmed entry.

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

Progress in retinal and eye research Mar 22 2018
Pubmed ID: 29578069
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.

Kemerley A, Sloan C, Pfeifer W, Smith R, Drack A.

Ophthalmic genetics Apr 1 2016
Pubmed ID: 27096712
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

Datta P, Allamargot C, Hudson JS, Andersen EK, Bhattarai S, Drack AV, Sheffield VC, Seo S.

Proceedings of the National Academy of Sciences. Aug 11 2015
Pubmed ID: 26216965
Gene Therapy for Blinding Pediatric Eye Disorders.

Dumitrescu AV, Drack AV.

Advances in Pediatrics Aug 1 2015
Pubmed ID: 26205114
Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

Whitmore SS, Sohn EH, Chirco KR, Drack AV, Stone EM, Tucker BA, Mullins RF.

Progress in Retinal and Eye Research Dec 5 2014
Pubmed ID: 25486088
Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.

Whitmore SS, Wagner AH, DeLuca AP, Drack AV, Stone EM, Tucker BA, Zeng S, Braun TA, Mullins RF, Scheetz TE.

Experimental eye research Nov 5 2014
Pubmed ID: 25446321
Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases.

Wiley LA, Burnight ER, Songstad AE, Drack AV, Mullins RF, Stone EM, Tucker BA.

Progress in Retinal and Eye Research Nov 4 2014
Pubmed ID: 25448922
Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease).

Nielsen AK, Drack AV, Ostergaard JR.

Ophthalmic Genetics Nov 3 2014
Pubmed ID: 25365415
Vitritis in pediatric genetic retinal disorders.

Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV.

Ophthalmology Sep 10 2014
Pubmed ID: 25217415
Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.

Schubert C, Pryds A, Zeng S, Xie Y, Freund KB, Spaide RF, Merriam JC, Barbazetto I, Slakter JS, Chang S, Munch IC, Drack AV, Hernandez J, Yzer S, Merriam JE, Linneberg A, Larsen M, Yannuzzi LA, Mullins RF, Allikmets R.

Human Mutation Jun 10 2014
Pubmed ID: 24665005

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