H. Pawar

发表

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

M. Boehnke, T. Aleman, Jun Z. Li, 2019, PLoS genetics.

Differential expression profile prioritization of positional candidate glaucoma genes: the GLC1C locus.

J. Samples, M. K. Wirtz, F. Rozsa, 2007, Archives of ophthalmology.

Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.

K. Lunetta, P. Sieving, M. Boehnke, 1996, Human heredity.

A conserved retina-specific gene encodes a basic motif/leucine zipper domain.

A. Jackson, A. Swaroop, N. Agarwal, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

M. Boehnke, M. Epstein, D. Mackey, 2005, American journal of human genetics.

Effects of timolol on MYOC, OPTN, and WDR36 RNA levels.

S. Moroi, F. Rozsa, K. Scott, 2008, Archives of ophthalmology.

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.

G. Abecasis, Mingyao Li, A. Swaroop, 2005, Human molecular genetics.

Toll-like receptor 4 variant D 299 G is associated with susceptibility to age-related macular degeneration

G. Abecasis, Mingyao Li, A. Swaroop, 2005 .

Mapping and gene expression profile of the minimally overrepresented 8q24 region in prostate cancer.

N. Tsuchiya, Kazunari Sato, R. Jenkins, 2002, The American journal of pathology.

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

S. Archer, S. Moroi, S. Elner, 2020, Scientific Reports.

Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises De Novo in a Family of Andean Descent

R. Fujita, J. Richards, A. Estrada-Cuzcano, 2007, Journal of glaucoma.

Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure.

M. Othman, D. Vollrath, S. Moroi, 2006, Molecular vision.

Refined genetic mapping of juvenile X-linked retinoschisis.

K. Lunetta, P. Sieving, M. Boehnke, 1995, Human heredity.

Genome-wide association study and meta-analysis of intraocular pressure

G. Abecasis, B. Yaspan, J. Haines, 2013, Human Genetics.

Congenital cataracts: de novo gene conversion event in CRYBB2

M. Boehnke, R. Ritch, J. Liebmann, 2014, Molecular vision.

Variation in optineurin (OPTN) allele frequencies between and within populations

W. Bromley, P. Lichter, S. Moroi, 2007, Molecular vision.

Localization of the gene for pigment epithelium-derived factor (PEDF) to chromosome 17p13.1 and expression in cultured human retinoblastoma cells.

A. Swaroop, I. Rodriguez, G. Chader, 1994, Genomics.

BetaB2-crystallin mutations associated with cataract and glaucoma leads to mitochondrial alterations in lens epithelial cells and retinal neurons.

P. Fort, A. Rübsam, Jennifer E. Dulle, 2017, Experimental eye research.

X-linked juvenile retinoschisis: localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC.

P. Sieving, J. Richards, E. Bingham, 1996, Human heredity.

Genome-wide association study and meta-analysis of intraocular pressure

G. Abecasis, B. Yaspan, J. Haines, 2013, Human Genetics.

Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation.

P. Sieving, E. Bingham, H. Pawar, 1996, Transactions of the American Ophthalmological Society.

Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises De Novo in a Family of Andean Descent

R. Fujita, J. Richards, A. Estrada-Cuzcano, 2007, Journal of glaucoma.