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Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
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
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Patients presenting with metastases: stage IV uveal melanoma, an international study
Garg, Gaurav, Finger, Paul T, Kivelä, Tero T, Simpson, E Rand, Gallie, Brenda L, Saakyan, Svetlana, Amiryan, Anush G, Valskiy, Vladimir, Chin, Kimberly J, Semenova, Ekaterina, Seregard, Stefan, Filì, Maria, Wilson, Matthew, Haik, Barrett, Caminal, Josep Maria, Catala-Mora, Jaume, Gutiérrez, Cristina, Pelayes, David E, Folgar, Anibal Martin, Jager, Martine Johanna, Doğrusöz, Mehmet, Luyten, Gregorius P M, Singh, Arun D, Suzuki, Shigenobu, Finger, Paul T, Coupland, Sarah E, Albert, Daniel M, Amiryan, Anush G, Saakyan, Svetlana, Auw-Hädrich, Claudia, Baker, Diane, Barnhill, Raymond, Caminal, José M, Caroll, William L, Cassoux, Nathalie, Desjardins, Laurence G, Pierron, Gaelle, Catalá-Mora, Jaume, Chantada, Guillermo, Chévez-Barrios, Patricia, Max Conway, R, Damato, Bertil E, Demirci, Hakan, Dutton, Jonathan J, Esmaeli, Bita, Prieto, Victor G, Williams, Michelle, Gallie, Brenda L, Graue, Gerardo F, Grossniklaus, Hans E, Heegaard, Steffen, Holbach, Leonard M, Honavar, Santosh G, Jager, Martine J, Kivelä, Tero T, Kujala, Emma, Rouic, Livia Lumbroso-Le, Mallipatna, Ashwin C, Modorati, Giulio M, Munier, Francis L, Murray, Timothy G, Pavlick, Anna C, Pe’er, Jacob, Pelayes, David E, Rodrigues, Manuel, Sauerwein, Wolfgang A G, Semenova, Ekaterina, Seregard, Stefan, Shields, Carol, Rand Simpson, E, Singh, Arun D, Suzuki, Shigenobu, Washington, Mary Kay, White, Valerie A, Wilson, Mathew W, Wittekind, Christian W, Yin, Vivian
Published in British journal of ophthalmology (01.04.2022)
Published in British journal of ophthalmology (01.04.2022)
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Journal Article
Changes in Choroidal Thickness After Intravitreal Injection of Anti-Vascular Endothelial Growth Factor in Pachychoroid Neovasculopathy
Padrón-Pérez, Noel, Arias, Luis, Rubio, Marcos, Lorenzo, Daniel, García-Bru, Pere, Català-Mora, Jaume, Caminal, José M.
Published in Investigative ophthalmology & visual science (01.02.2018)
Published in Investigative ophthalmology & visual science (01.02.2018)
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Journal Article
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Mora, Jaume Català, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
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Journal Article
Identification of immunosuppressive factors in retinoblastoma cell secretomes and aqueous humor from patients
Cuadrado‐Vilanova, Maria, Liu, Jing, Paco, Sonia, Aschero, Rosario, Burgueño, Victor, Sirab, Nanor, Pascual‐Pasto, Guillem, Correa, Genoveva, Balaguer‐Lluna, Leire, Castillo‐Ecija, Helena, Perez‐Jaume, Sara, Muñoz‐Aznar, Oscar, Roldan, Monica, Suñol, Mariona, Schaiquevich, Paula, Aerts, Isabelle, Doz, François, Cassoux, Nathalie, Lubieniecki, Fabiana, Benitez‐Ribas, Daniel, Lavarino, Cinzia, Mora, Jaume, Chantada, Guillermo L, Catala‐Mora, Jaume, Radvanyi, François, Carcaboso, Angel M
Published in The Journal of pathology (01.07.2022)
Published in The Journal of pathology (01.07.2022)
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Journal Article
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype
Esteve-Garcia, Anna, Cobos, Estefania, Sau, Cristina, Padró-Miquel, Ariadna, Català-Mora, Jaume, Barberán-Martínez, Pilar, Millán, José M., García-García, Gema, Aguilera, Cinthia
Published in Frontiers in genetics (21.02.2024)
Published in Frontiers in genetics (21.02.2024)
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Journal Article
Angioid streaks and obstructive sleep apnea syndrome: are they related?
Castany-Aregall, Marta, Aparicio, Gloria, Grau, Núria, Carceller, Amadeu, Pérez-Hoyos, Santiago, Català-Mora, Jaume, Anton, Alfonso
Published in Sleep & breathing (01.03.2021)
Published in Sleep & breathing (01.03.2021)
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Journal Article
Anterior iris‐claw intraocular lens implantation for the management of nontraumatic ectopia lentis: long‐term outcomes in a paediatric cohort
Català‐Mora, Jaume, Cuadras, Daniel, Díaz‐Cascajosa, Jesús, Castany‐Aregall, Marta, Prat‐Bartomeu, Joan, García‐Arumí, José
Published in Acta ophthalmologica (Oxford, England) (01.03.2017)
Published in Acta ophthalmologica (Oxford, England) (01.03.2017)
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Journal Article
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene
Subirà, Olaia, Català-Mora, Jaume, Díaz-Cascajosa, Jesús, Padrón-Pérez, Noel, Claveria, M. A., Coll-Alsina, Natalia, Bonnet, Crystel, Petit, Christine, Caminal, J. M., Prat, Joan
Published in Eye (London) (01.03.2020)
Published in Eye (London) (01.03.2020)
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Journal Article
Follow‐up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients
Cuadrado‐Vilanova, Maria, Burgueño, Victor, Balaguer‐Lluna, Leire, Aschero, Rosario, Castillo‐Ecija, Helena, Liu, Jing, Perez‐Jaume, Sara, Pascual‐Pasto, Guillem, Olaciregui, Nagore G, Gomez‐Gonzalez, Soledad, Correa, Genoveva, Suñol, Mariona, Schaiquevich, Paula, Radvanyi, François, Lavarino, Cinzia, Mora, Jaume, Catala‐Mora, Jaume, Chantada, Guillermo L, Carcaboso, Angel M
Published in The journal of pathology. Clinical research (01.01.2023)
Published in The journal of pathology. Clinical research (01.01.2023)
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Journal Article
Bilateral multiple iridociliary cysts in diffuse uveal melanocytic proliferation
Padrón-Pérez, Noel, Caminal, José M., Lorenzo, Daniel, Català-Mora, Jaume
Published in Canadian journal of ophthalmology (01.12.2017)
Published in Canadian journal of ophthalmology (01.12.2017)
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Journal Article
Correlation between spectral-domain optical coherence tomography and autofluorescence findings in sclerochoroidal calcification
Caminal-Mitjana, José María, Padrón-Pérez, Noel, Arias-Barquet, Luis, Rubio-Caso, Marcos Javier, Català-Mora, Jaume
Published in Canadian journal of ophthalmology (01.08.2013)
Published in Canadian journal of ophthalmology (01.08.2013)
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Journal Article
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach
Esteve-Garcia, Anna, Padró-Miquel, Ariadna, Català-Mora, Jaume, Sau, Cristina, Yubero, Delia, Corradi, Zelia, Cremers, Frans P. M., Barberán-Martínez, Pilar, Millán, José M., García-García, Gema, Ismael, Ilyana, Arias, Luis, Cobos, Estefania, Aguilera, Cinthia
Published in Eye (London) (09.09.2025)
Published in Eye (London) (09.09.2025)
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Journal Article
Metastatic Death Based on Presenting Features and Treatment for Advanced Intraocular Retinoblastoma: A Multicenter Registry-Based Study
Tomar, Ankit Singh, Finger, Paul T, Gallie, Brenda, Kivelä, Tero T, Mallipatna, Ashwin, Zhang, Chengyue, Zhao, Junyang, Wilson, Matthew W, Brennan, Rachel C, Burges, Michala, Kim, Jonathan, Berry, Jesse L, Jubran, Rima, Khetan, Vikas, Ganesan, Suganeswari, Yarovoy, Andrey, Yarovaya, Vera, Kotova, Elena, Volodin, Denis, Yousef, Yacoub A, Nummi, Kalle, Ushakova, Tatiana L, Yugay, Olga V, Polyakov, Vladimir G, Ramirez-Ortiz, Marco A, Esparza-Aguiar, Elizabeth, Chantada, Guillermo, Schaiquevich, Paula, Fandino, Adriana, Yam, Jason C, Lau, Winnie W, Lam, Carol P, Sharwood, Phillipa, Moorthy, Sonia, Long, Quah Boon, Essuman, Vera Adobea, Renner, Lorna A, Semenova, Ekaterina, Català-Mora, Jaume, Correa-Llano, Genoveva, Carreras, Elisa
Published in Ophthalmology (Rochester, Minn.) (01.08.2022)
Published in Ophthalmology (Rochester, Minn.) (01.08.2022)
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Journal Article
Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients
Subirà, Olaia, Català-Mora, Jaume, del Prado, Cristina, Díaz-Cascajosa, Jesús, Barraso Rodrigo, Marina, Cobos, Estefanía, Aguilera, Cinthia, Esteve-Garcia, Anna, García-Arumí, José, Caminal, Josep M.
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2024)
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2024)
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Journal Article
High-risk Pathologic Features Based on Presenting Findings in Advanced Intraocular Retinoblastoma: A Multicenter, International Data-Sharing American Joint Committee on Cancer Study
Tomar, Ankit Singh, Finger, Paul T, Gallie, Brenda, Kivelä, Tero T, Mallipatna, Ashwin, Zhang, Chengyue, Zhao, Junyang, Wilson, Matthew W, Brennan, Rachel C, Burges, Michala, Kim, Jonathan, Berry, Jesse L, Jubran, Rima, Khetan, Vikas, Ganesan, Suganeswari, Yarovoy, Andrey, Yarovaya, Vera, Kotova, Elena, Volodin, Denis, Yousef, Yacoub A, Nummi, Kalle, Ushakova, Tatiana L, Yugay, Olga V, Polyakov, Vladimir G, Ramirez-Ortiz, Marco A, Esparza-Aguiar, Elizabeth, Chantada, Guillermo, Schaiquevich, Paula, Fandino, Adriana, Yam, Jason C, Lau, Winnie W, Lam, Carol P, Sharwood, Phillipa, Moorthy, Sonia, Long, Quah Boon, Essuman, Vera Adobea, Renner, Lorna A, Semenova, Ekaterina, Català-Mora, Jaume, Correa-Llano, Genoveva, Carreras, Elisa
Published in Ophthalmology (Rochester, Minn.) (01.08.2022)
Published in Ophthalmology (Rochester, Minn.) (01.08.2022)
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Journal Article
Retinoblastoma seeds: impact on American Joint Committee on Cancer clinical staging
Tomar, Ankit Singh, Finger, Paul T, Gallie, Brenda, Kivelä, Tero, Mallipatna, Ashwin, Zhang, Chengyue, Zhao, Junyang, Wilson, Matthew, Brennan, Rachel, Burges, Michala, Kim, Jonathan, Berry, Jesse L, Jubran, Rima, Khetan, Vikas, Ganeshan, Suganeswari, Yarovoy, Andrey, Yarovaya, Vera, Kotova, Elena, Volodin, Denis, Yousef, Yacoub, Nummi, Kalle, Ushakova, Tatiana L, Yugay, Olga V, Polyakov, Vladimir G, Ramirez-Ortiz, Marco Antonio, Esparza-Aguiar, Elizabeth, Chantada, Guillermo L, Schaiquevich, Paula, Fandiño, Adriana C, Yam, Jason C, Lau, Winnie W, Lam, Carol P, Sharwood, Phillipa, Moorthy, Sonia, Long, Quah Boon, Essuman, Vera Adobea, Renner, Lorna A, Semenova, Ekaterina, Català-Mora, Jaume, Correa Llano, Maria, Carreras, Elisa, Coupland, Sarah E, Albert, Daniel M, Amiryan, Anush G, Saakyan, Svetlana, Auw-Hädrich, Claudia, Baker, Diane, Barnhill, Raymond, Caminal, José M, Caroll, William L, Cassoux, Nathalie, Desjardins, Laurence G, Doz, François, Pierron, Gaelle, Chévez-Barrios, Patricia, Max Conway, R, Damato, Bertil E, Demirci, Hakan, Dutton, Jonathan J, Esmaeli, Bita, Prieto, Victor G, Williams, Michelle, Gallie, Brenda L, Graue, Gerardo F, Grossniklaus, Hans E, Heegaard, Steffen, Holbach, Leonard M, Honavar, Santosh G, Jager, Martine J, Kujala, Emma, Rouic, Livia Lumbroso-Le, Modorati, Giulio M, Munier, Francis L, Murray, Timothy G, Pavlick, Anna C, Pe’er, Jacob, Pelayes, David E, Rodriguez, Manuel Jorge, Sauerwein, Wolfgang AG, Seregard, Stefan, Shields, Carol, Rand Simpson, E, Singh, Arun D, Suzuki, Shigenobu, Washington, Mary Kay, White, Valerie A, Wilson, Mathew W, Wittekind, Christian W, Yin, Vivian
Published in British journal of ophthalmology (01.01.2023)
Published in British journal of ophthalmology (01.01.2023)
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Journal Article