Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases von Hanany, Mor, Rivolta, Carlo, Sharon, Dror

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A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) von Sharon, Dror, Ben‐Yosef, Tamar, Goldenberg‐Cohen, Nitza, Pras, Eran, Gradstein, Libe, Soudry, Shiri, Mezer, Eedy, Zur, Dinah, Abbasi, Anan H., Zeitz, Christina, Cremers, Frans P. M., Khan, Muhammad I., Levy, Jaime, Rotenstreich, Ygal, Birk, Ohad S., Ehrenberg, Miriam, Leibu, Rina, Newman, Hadas, Shomron, Noam, Banin, Eyal, Perlman, Ido

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Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D von Sharon, Dror, Wimberg, Hanna, Kinarty, Yael, Koch, Karl-Wilhelm

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A new mouse model for retinal degeneration due to Fam161a deficiency von Beryozkin, Avigail, Matsevich, Chen, Obolensky, Alexey, Kostic, Corinne, Arsenijevic, Yvan, Wolfrum, Uwe, Banin, Eyal, Sharon, Dror

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Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Terminat... von Beryozkin, Avigail, Samanta, Ananya, Gopalakrishnan, Prakadeeswari, Khateb, Samer, Banin, Eyal, Sharon, Dror, Nagel-Wolfrum, Kerstin

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A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans von Khateb, Samer, Kowalewski, Björn, Bedoni, Nicola, Damme, Markus, Pollack, Netta, Saada, Ann, Obolensky, Alexey, Ben-Yosef, Tamar, Gross, Menachem, Dierks, Thomas, Banin, Eyal, Rivolta, Carlo, Sharon, Dror

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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics von Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, Cremers, Frans P. M.

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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations von AlTalbishi, Alaa, Zelinger, Lina, Zeitz, Christina, Hendler, Karen, Namburi, Prasanthi, Audo, Isabelle, Sheffer, Ruth, Yahalom, Claudia, Khateb, Samer, Banin, Eyal, Sharon, Dror

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Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes von Abu Elasal, Maria, Mousa, Samira, Salameh, Manar, Blumenfeld, Anat, Khateb, Samer, Banin, Eyal, Sharon, Dror

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Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel von Shalom, Sapir, Hanany, Mor, Eilat, Avital, Chowers, Itay, Ben-Yosef, Tamar, Khateb, Samer, Banin, Eyal, Sharon, Dror

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Fine-tuning FAM161A gene augmentation therapy to restore retinal function von Arsenijevic, Yvan, Chang, Ning, Mercey, Olivier, El Fersioui, Younes, Koskiniemi-Kuendig, Hanna, Joubert, Caroline, Bemelmans, Alexis-Pierre, Rivolta, Carlo, Banin, Eyal, Sharon, Dror, Guichard, Paul, Hamel, Virginie, Kostic, Corinne

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Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations von Beryozkin, Avigail, Khateb, Samer, Idrobo-Robalino, Carlos Alberto, Khan, Muhammad Imran, Cremers, Frans P. M., Obolensky, Alexey, Hanany, Mor, Mezer, Eedy, Chowers, Itay, Newman, Hadas, Ben-Yosef, Tamar, Sharon, Dror, Banin, Eyal

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Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation von Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá‐Mora, Jaume, Giorda, Roberto, Heckenlively, John R., Hufnagel, Robert B., Jacobson, Samuel G., Kellner, Ulrich, Kitsiou‐Tzeli, Sofia, Matet, Alexandre, Martorell Sampol, Loreto, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne

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The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies von Abu Diab, Alaa, AlTalbishi, Ala'a, Rosin, Boris, Kanaan, Moien, Kamal, Lara, Swaroop, Anand, Chowers, Itay, Banin, Eyal, Sharon, Dror, Khateb, Samer

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Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark von Bitner, Hanna, Schatz, Patrik, Mizrahi-Meissonnier, Liliana, Sharon, Dror, Rosenberg, Thomas

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Genetic and Clinical Analyses of the KIZ -c.226C>T Variant Resulting in a Dual Mutational Mechanism von Sundaresan, Yogapriya, Rivera, Antonio, Obolensky, Alexey, Gopalakrishnan, Prakadeeswari, Ohayon Hadad, Hanit, Shemesh, Aya, Khateb, Samer, Ross, Maya, Ofri, Ron, Durst, Sharon, Newman, Hadas, Leibu, Rina, Soudry, Shiri, Zur, Dinah, Ben-Yosef, Tamar, Banin, Eyal, Sharon, Dror

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene von Nishiguchi, Koji M., Tearle, Richard G., Liu, Yangfan P., Oh, Edwin C., Miyake, Noriko, Benaglio, Paola, Harper, Shyana, Koskiniemi-Kuendig, Hanna, Venturini, Giulia, Sharon, Dror, Koenekoop, Robert K., Nakamura, Makoto, Kondo, Mineo, Ueno, Shinji, Yasuma, Tetsuhiro R., Beckmann, Jacques S., Ikegawa, Shiro, Matsumoto, Naomichi, Terasaki, Hiroko, Berson, Eliot L., Katsanis, Nicholas, Rivolta, Carlo

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

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

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Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Eff... von Mbefo, Martial, Berger, Adeline, Schouwey, Karine, Gérard, Xavier, Kostic, Corinne, Beryozkin, Avigail, Sharon, Dror, Dolfuss, Hélène, Munier, Francis, Tran, Hoai Viet, van Lohuizen, Maarten, Beltran, William A., Arsenijevic, Yvan

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