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.

Natural history study of visual function in patients with BBS1-and BBS10-related retinal degeneration

Monika Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, Matteo Di Scipio, Ine Stubbe, Jacque L Duncan, Helene Dollfus, Andrea L Vincent, Tomas S Aleman, Bart Leroy, Jason Maynes, Francis Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon

Investigative Ophthalmology & Visual Science Jun 21 2021
Pubmed ID:
BBS10 knockout mouse exhibits developmental lack of cone function and recapitulates retinal degeneration

Sara Mayer, Jacintha Thomas, Angela Mahoney, Sajag Bhattarai, Qihong Zhang, Elliot Stalter, Poppy Datta, Ying Hsu, Janelle Garrison, Charles Searby, Seongjin Seo, Val Sheffield, Arlene V Drack

Investigative Ophthalmology & Visual Science Jun 21 2021
Pubmed ID:
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

Litts KM, Woertz EN, Wynne N, Brooks BP, Chacon A, Connor TB Jr, Costakos D, Dumitrescu A, Drack AV, Fishman GA, Hauswirth WW, Kay CN, Lam BL, Michaelides M, Pennesi ME, Stepien KE, Strul S, Summers CG, Carroll J.

Translational Vision Science & Technology May 3 2021
Pubmed ID: 34111268
A Unique Phenotype of a Novel AIFM1 Gene Mutation: Case Report and Literature Review. (1905)

Oday Halhouli, John Kamholz, Arlene Drack, Richard Smith, Tiffany Grider

Neurology Apr 13 2021
Pubmed ID:
Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years

Maguire AM, Russell S, Chung DC, Yu ZF, Tillman A, Drack AV, Simonelli F, Leroy BP, Reape KZ, High KA, Bennett J.

Ophthalmology Mar 30 2021
Pubmed ID: 33798654
Neurodevelopmental outcome of preterm infants enrolled in myo-inositol randomized controlled trial

Adams-Chapman I, Watterberg KL, Nolen TL, Hirsch S, Cole CA, Cotten CM, Oh W, Poindexter BB, Zaterka-Baxter KM, Das A, Lacy CB, Scorsone AM, Duncan AF, DeMauro SB, Goldstein RF, Colaizy TT, Wilson-Costello DE, Purdy IB, Hintz SR, Heyne RJ, Et al.

Journal of Perinatology Mar 23 2021
Pubmed ID: 33758387
The evolving role of genetics in ophthalmology

Couser NL, Brooks BP, Drack AV, Shankar SP

Ophthalmic Genetics Jan 12 2021
Pubmed ID: 33432855
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Et al.

Genetics in Medicine Nov 26 2020
Pubmed ID: 33239752
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report

Joshua Hagedorn , Armin Avdic , Michael J Schnieders , Benjamin R Roos, Young H Kwon, Arlene V Drack, Erin A Boese, John H Fingert

BMC Ophthalmology Oct 1 2020
Pubmed ID: 33004036
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report

Joshua Hagedorn , Armin Avdic , Michael J Schnieders , Benjamin R Roos, Young H Kwon, Arlene V Drack, Erin A Boese, John H Fingert

BMC Ophthalmology Oct 1 2020
Pubmed ID: 33004036

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