Ocular Pathologic Features of Hermansky-Pudlak Syndrome Type 1 in an Adult

by Zhou, Min, Gradstein, Libe, Gonzales, John A., Tsilou, Ekaterini T., Gahl, William A., Chan, Chi-Chao
Published 2006

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

by Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S
Published 2014

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

by Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Published in Invest Ophthalmol Vis Sci (2016)

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

by Fine, Dina, Flusser, Hagit, Markus, Barak, Shorer, Zamir, Gradstein, Libe, Khateeb, Shareef, Langer, Yshia, Narkis, Ginat, Birk, Ruth, Galil, Aharon, Shelef, Ilan, Birk, Ohad S
Published in Eur J Hum Genet (2015)

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

by Gradstein, Libe, Zolotushko, Jenny, Sergeev, Yuri V., Lavy, Itay, Narkis, Ginat, Perez, Yonatan, Guigui, Sarah, Sharon, Dror, Banin, Eyal, Walter, Eyal, Lifshitz, Tova, Birk, Ohad S.
Published in BMC Med Genet (2016)

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

by Hanany, Mor, Allon, Gilad, Kimchi, Adva, Blumenfeld, Anat, Newman, Hadas, Pras, Eran, Wormser, Ohad, S. Birk, Ohad, Gradstein, Libe, Banin, Eyal, Ben-Yosef, Tamar, Sharon, Dror
Published in Eur J Hum Genet (2018)

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

by Mordechai, Shikma, Gradstein, Libe, Pasanen, Annika, Ofir, Rivka, El Amour, Khalil, Levy, Jaime, Belfair, Nadav, Lifshitz, Tova, Joshua, Sara, Narkis, Ginat, Elbedour, Khalil, Myllyharju, Johanna, Birk, Ohad S.
Published 2011

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

by Nadeem, Raheela, Kabir, Firoz, Li, Jiali, Gradstein, Libe, Jiao, Xiaodong, Rauf, Bushra, Naeem, Muhammad Asif, Assir, Muhammad Zaman, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published in Hum Genome Var (2020)

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

by Perez, Yonatan, Shorer, Zamir, Liani-Leibson, Keren, Chabosseau, Pauline, Kadir, Rotem, Volodarsky, Michael, Halperin, Daniel, Barber-Zucker, Shiran, Shalev, Hanna, Schreiber, Ruth, Gradstein, Libe, Gurevich, Evgenia, Zarivach, Raz, Rutter, Guy A., Landau, Daniel, Birk, Ohad S.
Published in Brain (2017)

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

by Wormser, Ohad, Gradstein, Libe, Yogev, Yuval, Perez, Yonatan, Kadir, Rotem, Goliand, Inna, Sadka, Yair, El Riati, Saad, Flusser, Hagit, Nachmias, Dikla, Birk, Ruth, Iraqi, Muhamad, Kadar, Einat, Gat, Roni, Drabkin, Max, Halperin, Daniel, Horev, Amir, Sivan, Sara, Abdu, Uri, Elia, Natalie, Birk, Ohad S.
Published in Eur J Hum Genet (2019)