Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel

Por Lazar, Csilla H., Mutsuddi, Mousumi, Kimchi, Adva, Zelinger, Lina, Mizrahi-Meissonnier, Liliana, Marks-Ohana, Devorah, Boleda, Alexis, Ratnapriya, Rinki, Sharon, Dror, Swaroop, Anand, Banin, Eyal
Publicado no Invest Ophthalmol Vis Sci (2015)

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Por Xu, Mingchu, Yamada, Takeyuki, Sun, Zixi, Eblimit, Aiden, Lopez, Irma, Wang, Feng, Manya, Hiroshi, Xu, Shan, Zhao, Li, Li, Yumei, Kimchi, Adva, Sharon, Dror, Sui, Ruifang, Endo, Tamao, Koenekoop, Robert K., Chen, Rui
Publicado no Hum Mol Genet (2016)

Non-syndromic early-onset cone-rod dystrophy and limb-girdle muscular dystrophy in a consanguineous Israeli family are caused by two independent yet linked mutations in ALMS1 and D...

Por Lazar, Csilla H., Kimchi, Adva, Namburi, Prasanthi, Mutsuddi, Mousumi, Zelinger, Lina, Beryozkin, Avigail, Ben-Simhon, Shiran, Obolensky, Alexey, Ben-Neriah, Ziva, Argov, Zohar, Pikarsky, Eli, Fellig, Yakov, Marks-Ohana, Devorah, Ratnapriya, Rinki, Banin, Eyal, Sharon, Dror, Swaroop, Anand
Publicado no Hum Mutat (2015)

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Por Beryozkin, Avigail, Shevah, Elia, Kimchi, Adva, Mizrahi-Meissonnier, Liliana, Khateb, Samer, Ratnapriya, Rinki, Lazar, Csilla H., Blumenfeld, Anat, Ben-Yosef, Tamar, Hemo, Yitzhak, Pe’er, Jacob, Averbuch, Eduard, Sagi, Michal, Boleda, Alexis, Gieser, Linn, Zlotogorski, Abraham, Falik-Zaccai, Tzipora, Alimi-Kasem, Ola, Jacobson, Samuel G., Chowers, Itay, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Publicado no Sci Rep (2015)