Items where Author is "Harper, Shyana"

2015

Venturini, Giulia and Koskiniemi-Kuendig, Hanna and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2015) Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. Genetics in medicine, 17 (4). pp. 285-290.

2014

Venturini, Giulia and Di Gioia, Silvio Alessandro and Harper, Shyana and Weigel-DiFranco, Carol and Rivolta, Carlo and Berson, Eliot L.. (2014) Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa. PLoS ONE, 9 (3). e92479.

Benaglio, Paola and San Jose, Patricia Fernandez and Avila-Fernandez, Almudena and Ascari, Giulia and Harper, Shyana and Manes, Gaël and Ayuso, Carmen and Hamel, Christian and Berson, Eliot L. and Rivolta, Carlo. (2014) Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision, 20. pp. 843-851.

2013

Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144.

2011

Tanackovic, Goranka and Ransijn, Adriana and Ayuso, Carmen and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics, 88 (5). pp. 643-649.

Benaglio, Paola and McGee, Terri L. and Capelli, Leonardo P. and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Human Mutation, 32 (6). E2246-E2258.