Featured Publications

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

Corneal deturgescence after Descemet stripping automated endothelial keratoplasty evaluated by Visante anterior segment optical coherence tomography.

Di Pascuale MA, Prasher P, Schlecte C, Arey M, Bowman RW, Cavanagh HD, McCulley JP, Mootha VV Am. J. Ophthalmol. 2009 Jul 148 1 32-7.e1

Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.

Saboo US, Penke D, Mahindrakar A, Uddaraju M, Sankurathri C, Gong X, Xing C, Mootha VV Ophthalmic Genet. 2016 Sep 1-3