Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

Por Collin, Rob W.J., Safieh, Christine, Littink, Karin W., Shalev, Stavit A., Garzozi, Hanna J., Rizel, Leah, Abbasi, Anan H., Cremers, Frans P.M., den Hollander, Anneke I., Klevering, B. Jeroen, Ben-Yosef, Tamar
Publicado em 2010

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Por Collin, Rob W.J., Littink, Karin W., Klevering, B. Jeroen, van den Born, L. Ingeborgh, Koenekoop, Robert K., Zonneveld, Marijke N., Blokland, Ellen A.W., Strom, Tim M., Hoyng, Carel B., den Hollander, Anneke I., Cremers, Frans P.M.
Publicado em 2008

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

Por Barragán, Isabel, Borrego, Salud, Pieras, Juan Ignacio, Pozo, María González-del, Santoyo, Javier, Ayuso, Carmen, Baiget, Montserrat, Millan, José M, Mena, Marcela, El-Aziz, Mai M Abd, Audo, Isabelle, Zeitz, Christina, Littink, Karin W, Dopazo, Joaquín, Bhattacharya, Shomi S, Antiñolo, Guillermo
Publicado em 2010

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Por Littink, Karin W., Koenekoop, Robert K., van den Born, L. Ingeborgh, Collin, Rob W. J., Moruz, Luminita, Veltman, Joris A., Roosing, Susanne, Zonneveld, Marijke N., Omar, Amer, Darvish, Mahshad, Lopez, Irma, Kroes, Hester Y., van Genderen, Maria M., Hoyng, Carel B., Rohrschneider, Klaus, van Schooneveld, Mary J., Cremers, Frans P. M., den Hollander, Anneke I.
Publicado em 2010