W. Alward

发表

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

J. Murray, E. Semina, Nicole L Maciolek, 2006, BMC Medical Genetics.

Screening for Mutations of Axenfeld-Rieger Syndrome Caused by FOXC1 Gene in Japanese Patients

V. Sheffield, E. Stone, Tetsuya Yamamoto, 2001, Journal of glaucoma.

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

J. Weber, K. Buetow, A. Kwitek, 1992, Nature genetics.

Rieger syndrome: a clinical, molecular, and biochemical analysis

B. Amendt, W. Alward, E. Semina, 2000, Cellular and Molecular Life Sciences CMLS.

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

V. Sheffield, M. Coote, D. Mackey, 1998, The New England journal of medicine.

Characterization and comparison of the human and mouse GLC1A glaucoma genes.

V. Sheffield, R. Swiderski, E. Stone, 1998, Genome research.

The genetic mechanisms of primary angle closure glaucoma

M. H. Kuehn, D. Ahram, W. Alward, 2015, Eye.

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

D Y Nishimura, B. Hogan, J. Martin, 2000, Human molecular genetics.

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

V. Sheffield, R. Ritch, J. Dickinson, 1999, Human molecular genetics.

Axenfeld-Rieger syndrome in the age of molecular genetics.

W. Alward, W. Alward, 2000, American journal of ophthalmology.

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

D Y Nishimura, V. Sheffield, D. Mackey, 2001, American journal of human genetics.

Genome-wide analysis of copy number variants in age-related macular degeneration

Young H. Kwon, V. Sheffield, T. Wassink, 2010, Human Genetics.