Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

por Chiang, John (Pei-Wen), Lamey, Tina, McLaren, Terri, Thompson, Jennifer A, Montgomery, Hannah, De Roach, John
Publicado 2015

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease

por Salles, Mariana Vallim, Motta, Fabiana Louise, Martin, Renan, Filippelli-Silva, Rafael, Dias da Silva, Elton, Varela, Patricia, Costa, Kárita Antunes, Chiang, John PeiWen, Pesquero, João Bosco, Sallum, Juliana-Maria Ferraz
Publicado 2018

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

por Hirsch, Yoel, Zeevi, David A., Lam, Byron L., Scher, Sholem Y., Bringer, Rachel, Cherki, Bitya, Cohen, Cadina C., Muallem, Hagit, Chiang, John (Pei-Wen), Pantrangi, Madhulatha, Ekstein, Josef, Johansson, Martin M.
Publicado 2019

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8

por Fujinami, Kaoru, Strauss, Rupert W, Chiang, John (Pei-Wen), Audo, Isabelle S, Bernstein, Paul S, Birch, David G, Bomotti, Samantha M, Cideciyan, Artur V, Ervin, Ann-Margret, Marino, Meghan J, Sahel, José-Alain, Mohand-Said, Saddek, Sunness, Janet S, Traboulsi, Elias I, West, Sheila, Wojciechowski, Robert, Zrenner, Eberhart, Michaelides, Michel, Scholl, Hendrik P N
Publicado 2019