Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

Por Khateb, Samer, Zelinger, Lina, Ben-Yosef, Tamar, Merin, Saul, Crystal-Shalit, Ornit, Gross, Menachem, Banin, Eyal, Sharon, Dror
Publicado em 2012

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Por Bandah-Rozenfeld, Dikla, Mizrahi-Meissonnier, Liliana, Farhy, Chen, Obolensky, Alexey, Chowers, Itay, Pe'er, Jacob, Merin, Saul, Ben-Yosef, Tamar, Ashery-Padan, Ruth, Banin, Eyal, Sharon, Dror
Publicado em 2010

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Por Nishimura, Darryl Y., Swiderski, Ruth E., Searby, Charles C., Berg, Erik M., Ferguson, Amanda L., Hennekam, Raoul, Merin, Saul, Weleber, Richard G., Biesecker, Leslie G., Stone, Edwin M., Sheffield, Val C.
Publicado em 2005

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Por Zelinger, Lina, Banin, Eyal, Obolensky, Alexey, Mizrahi-Meissonnier, Liliana, Beryozkin, Avigail, Bandah-Rozenfeld, Dikla, Frenkel, Shahar, Ben-Yosef, Tamar, Merin, Saul, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G., Sharon, Dror
Publicado em 2011