Publications

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2015

Scleral buckle hemorrhagic cyst masquerading as an orbital tumor.   |   D.R.P. Almeida; E.K. Chin; C. Boldt; V.B. Mahajan   |   Details
Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.   |   M. Marsiglia; W. Lee; V.B. Mahajan; J. Zernant; F.C. Delori; S.H. Tsang; J.R. Sparrow   |   Details
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase   |   L. Paemka; V.B. Mahajan; S.N. Ehaideb; J.M. Skeie; M.Chee Tan; S. Wu; A.J. Cox; L.P. Sowers; J. Gecz; L. Jolly;   |   Details

2014

Silencing of tuberin enhances photoreceptor survival and function in a preclinical model of retinitis pigmentosa (an american ophthalmological society thesis).   |   S.H. Tsang; L. Chan; Y.T. Tsai; W.H. Wu; C.W. Hsu; J. Yang; J. Tosi; K.J. Wert; R.J. Davis; V.B. Mahajan   |   Details
Incomplete vitreomacular traction release using intravitreal ocriplasmin.   |   E.K. Chin; D.R.P. Almeida; E.H. Sohn; C. Boldt; V.B. Mahajan; K.M. Gehrs; S.R. Russell; J.C. Folk   |   Details
Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.   |   J. Chen; N. Ingham; J. Kelly; S. Jadeja; D. Goulding; J. Pass; V.B. Mahajan; S.H. Tsang; A. Nijnik; I.J. Jackson; J.K. White; A. Forge; D. Jagger; K.P. Steel   |   Details
Decreased macular thickness in nonproliferative macular telangiectasia type 2 with oral carbonic anhydrase inhibitors.   |   J.J. Chen; E.H. Sohn; J.C. Folk; V.B. Mahajan; C.N. Kay; C. Boldt; S.R. Russell   |   Details
Silencing of tuberin enhances photoreceptor survival and function in a preclinical model of retinitis pigmentosa (an american ophthalmological society thesis)   |   S.H. Tsang; L. Chan; Y.T. Tsai; W.H. Wu; C.W. Hsu; J. Yang; J. Tosi; K.J. Wert; R.J. Davis; V.B. Mahajan   |   Details
Defective Motile Cilia in Prickle2-Deficient Mice.   |   L.P. Sowers; T. Yin; V.B. Mahajan; A.G. Bassuk   |   Details
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.   |   K.J. Wert; J.M. Skeie; A.G. Bassuk; A.K. Olivier; S.H. Tsang; V.B. Mahajan   |   Details
A novel RPGR mutation masquerading as Stargardt disease.   |   A.G. Bassuk; T. Sujirakul; S.H. Tsang; V.B. Mahajan   |   Details
CAPN5 gene silencing by short hairpin RNA interference   |   N.G. Nelson; J.M. Skeie; H. Muradov; H.A. Rowell; S. Seo; V.B. Mahajan   |   Details

2013

Mcph1-deficient mice reveal a role for MCPH1 in otitis media.   |   J. Chen; N. Ingham; S. Clare; C. Raisen; V.E. Vancollie; O. Ismail; R.E. McIntyre; S.H. Tsang; V.B. Mahajan; G. Dougan; D.J. Adams; J.K. White; K.P. Steel   |   Details
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles.   |   B.W. Darbro; V.B. Mahajan; L. Gakhar; J.M. Skeie; E. Campbell; S. Wu; X. Bing; K.J. Millen; W.B. Dobyns; J.A. Kessler; A. Jalali; J. Cremer; A. Segre; R. Manak; K.A. Aldinger; S. Suzuki; N. Natsume; M. Ono; H.Dai Hai; L.Thi Viet; S. Loddo; E.M. Valente; L. Bernardini; N. Ghonge; P.J. Ferguson; A.G. Bassuk   |   Details
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.   |   L. Paemka; V.B. Mahajan; J.M. Skeie; L.P. Sowers; S.N. Ehaideb; P. Gonzalez-Alegre; T. Sasaoka; H. Tao; A. Miyagi; N. Ueno; K. Takao; T. Miyakawa; S. Wu; B.W. Darbro; P.J. Ferguson; A.A. Pieper; J.K. Britt; J.A. Wemmie; D.S. Rudd; T. Wassink; H. El-Shanti; H.C. Mefford; G.L. Carvill; R. Manak; A.G. Bassuk   |   Details

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