Shyana Harper

发表

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

N. Katsanis, E. Berson, S. Riazuddin, 2011, Investigative ophthalmology & visual science.

The relationship of central foveal thickness to urinary iodine concentration in retinitis pigmentosa with or without cystoid macular edema.

B. Rosner, M. Sandberg, E. Berson, 2014, JAMA ophthalmology.

Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

C. Rivolta, E. Berson, C. Ayuso, 2011 .

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa

M. Sandberg, E. Pierce, C. Weigel-Difranco, 2017, Genes.

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

Paola Benaglio, Carlo Rivolta, T. L. McGee, 2011, Human mutation.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Makoto Nakamura, Paola Benaglio, Shinji Ueno, 2013, Proceedings of the National Academy of Sciences.

Targeted exon sequencing in Usher syndrome type I.

E. Berson, E. Pierce, M. Farkas, 2014, Investigative ophthalmology & visual science.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

C. Rivolta, E. Berson, P. Benaglio, 2014, Molecular vision.

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

C. Rivolta, E. Berson, C. Ayuso, 2011, American journal of human genetics.

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry

C. Rivolta, E. Berson, Giulia Venturini, 2014, Genetics in Medicine.