A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy

por Cohen, Ben, Chervinsky, Elena, Jabaly-Habib, Haneen, Shalev, Stavit A., Briscoe, Daniel, Ben-Yosef, Tamar
Publicado 2012

MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence

por Goldberg, Yael, Aleme, Ola, Peled-Perets, Lilach, Castellvi-Bel, Sergi, Nielsen, Maartje, Shalev, Stavit A.
Publicado 2021

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1

por Rizel, Leah, Safieh, Christine, Shalev, Stavit A., Mezer, Eedy, Jabaly-Habib, Haneen, Ben-Neriah, Ziva, Chervinsky, Elena, Briscoe, Daniel, Ben-Yosef, Tamar
Publicado 2011

Genetics of hearing loss in the Arab population of Northern Israel

por Danial-Farran, Nada, Brownstein, Zippora, Gulsuner, Suleyman, Tammer, Luna, Khayat, Morad, Aleme, Ola, Chervinsky, Elena, Zoubi, Olfat Aboleile, Walsh, Tom, Ast, Gil, King, Mary-Claire, Avraham, Karen B., Shalev, Stavit A.
Publicado 2018

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

por Spiegel, Ronen, Saada, Ann, Flannery, Padraig J, Burté, Florence, Soiferman, Devorah, Khayat, Morad, Eisner, Verónica, Vladovski, Eugene, Taylor, Robert W, Bindoff, Laurence A, Shaag, Avraham, Mandel, Hanna, Schuler-Furman, Ora, Shalev, Stavit A, Elpeleg, Orly, Yu-Wai-Man, Patrick
Publicado 2016

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

por Felipe-Medina, Natalia, Caburet, Sandrine, Sánchez-Sáez, Fernando, Condezo, Yazmine B, de Rooij, Dirk G, Gómez-H, Laura, Garcia-Valiente, Rodrigo, Todeschini, Anne Laure, Duque, Paloma, Sánchez-Martin, Manuel Adolfo, Shalev, Stavit A, Llano, Elena, Veitia, Reiner A, Pendás, Alberto M
Publicado 2020

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

por Ben Yosef, Tamar, Banin, Eyal, Chervinsky, Elana, Shalev, Stavit A., Leibu, Rina, Mezer, Eedy, Rotenstreich, Ygal, Goldenberg-Cohen, Nitza, Weiss, Shirel, Khan, Muhammad Imran, Panneman, Daan M., Hitti-Malin, Rebekkah J., Weiner, Chen, Roosing, Susanne, Cremers, Frans P. M., Pras, Eran, Zur, Dinah, Newman, Hadas, Deitch, Iris, Sharon, Dror, Ehrenberg, Miriam
Publicado 2023