Featured Publications

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.

Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X Invest. Ophthalmol. Vis. Sci. 2017 Sep 58 11 4579-4585

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

Afshari NA, Igo RP, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK Nat Commun 2017 Mar 8 14898

Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.

Cunnusamy K, Bowman CB, Beebe W, Gong X, Hogan RN, Mootha VV Cornea 2016 Feb 35 2 281-5

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.

Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV Mol. Vis. 2016 22 73-81

Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.

Soliman AZ, Xing C, Radwan SH, Gong X, Mootha VV JAMA Ophthalmol 2015 Sep 1-6

TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.

Mootha VV, Hussain I, Cunnusamy K, Graham E, Gong X, Neelam S, Xing C, Kittler R, Petroll WM Invest. Ophthalmol. Vis. Sci. 2015 Feb

Impact of Donor Age on Corneal Endothelium-Descemet Membrane Layer Scroll Formation.

Bennett A, Mahmoud S, Drury D, Cavanagh HD, McCulley JP, Petroll WM, Mootha VV Eye Contact Lens 2015 Jan

Trans-ethnic Replication of Association of CTG18.1 Repeat Expansion of TCF4 Gene with Fuchs Corneal Dystrophy in Chinese Implies Common Causal Variant.

Xing C, Gong X, Hussain I, Khor CC, Tan DT, Aung T, Mehta JS, Vithana EN, Mootha VV Invest. Ophthalmol. Vis. Sci. 2014 Oct

Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy.

Mootha VV, Gong X, Ku HC, Xing C Invest. Ophthalmol. Vis. Sci. 2013 Nov

Corneal higher-order aberrations after Descemet's stripping automated endothelial keratoplasty.

Muftuoglu O, Prasher P, Bowman RW, McCulley JP, Mootha VV Ophthalmology 2010 May 117 5 878-884.e6