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

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

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

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

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

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

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

le 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
Foilsithe in Eur J Hum Genet (2015)

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

le 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.
Foilsithe in BMC Med Genet (2016)

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

le 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
Foilsithe in Eur J Hum Genet (2018)

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

le 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.
Foilsithe 2011

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

le 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
Foilsithe in Hum Genome Var (2020)

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

le 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.
Foilsithe in Brain (2017)

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

le 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.
Foilsithe in Eur J Hum Genet (2019)