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.

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis

Drack AV, Miller JN, Pearce DA.

Journal of child neurology Sep 1 2013
Pubmed ID: 23877479
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.

Tucker BA, Mullins RF, Streb LM, Anfinson K, Eyestone ME, Kaalberg E, Riker MJ, Drack AV, Braun TA, Stone EM.

eLIFE. Aug 27 2013
Pubmed ID: 23991284
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA.

JAMA Ophthalmology Jun 20 2013
Pubmed ID: 23411883
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

Chamling X, Seo S, Bugge K, Searby C, Guo DF, Drack AV, Rahmouni K, Sheffield VC.

PLoS One. Mar 15 2013
Pubmed ID: 23554981
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.

Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG.

Ophthalmology Sep 1 2012
Pubmed ID: 22944025
TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.

Arlene V. Drack; Alina V. Dumitrescu; Sajag Bhattarai; Daniel Gratie; Edwin M. Stone; Robert Mullins; Val C. Sheffield

Investigative Ophthalmology & Visual Science Jan 5 2012
Pubmed ID: 22110077
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.

Dumitrescu AV, Milunsky JM, Longmuir SQ, Drack AV.

Ophthalmic genetics. Dec 22 2011
Pubmed ID: 22191992
Improved ocular alignment with adjustable sutures in adults undergoing strabismus surgery.

Zhang MS, Hutchinson AK, Drack AV, Cleveland J, Lambert SR.

Ophthalmology Oct 29 2011
Pubmed ID: 22036633
Optic nerve abnormalities in children: a practical approach.

Capo H, Repka MX, Edmond JC, Drack AV, Blumenfeld L, Siatkowski RM.

Journal of American Association for Pediatric Ophthalmology and Strabismus Jun 16 2011
Pubmed ID: 21683634
Prevalence and characteristics of abnormal head posture in children with Down syndrome: a 20-year retrospective, descriptive review.

Dumitrescu AV, Moga DC, Longmuir SQ, Olson RJ, Drack AV.

Ophthalmology Jun 12 2011
Pubmed ID: 21665280

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