Roser Gonzalez-Duarte

Affiliations: 
Genetica Universitat de Barcelona, Barcelona, Cataluña, Spain 
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"Roser Gonzalez-Duarte"

Parents

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Antoni Prevosti grad student (Evolution Tree)
Richard Ambler post-doc Edinburgh
 (Supervisor)

Collaborators

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Josep F Abril collaborator (Evolution Tree)
Daniel Grinberg collaborator Universitat de Barcelona (Evolution Tree)
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Publications

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Domènech EB, Andrés R, López-Iniesta MJ, et al. (2020) A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype. Investigative Ophthalmology & Visual Science. 61: 14
Toulis V, Cortés-González V, Castro-Miró M, et al. (2020) Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. Genes. 11
Gonzàlez-Duarte R, de Castro-Miró M, Tuson M, et al. (2019) Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies. Advances in Experimental Medicine and Biology. 1185: 215-219
Arenas-Galnares R, Castillo-Lara S, Toulis V, et al. (2019) RPGeNet v2.0: expanding the universe of retinal disease gene interactions network. Database : the Journal of Biological Databases and Curation. 2019
Valero R, de Castro-Miró M, Jiménez-Ochoa S, et al. (2019) Aberrant Splicing Events Associated to Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1. Genes. 10
Bolinches-Amorós A, León M, Del Buey Furió V, et al. (2019) Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. Stem Cell Research. 38: 101455
de Castro-Miró M, Tonda R, Marfany G, et al. (2018) Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. The British Journal of Ophthalmology
de Castro-Miró M, Tonda R, Escudero-Ferruz P, et al. (2016) Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. Plos One. 11: e0168966
Boloc D, Castillo-Lara S, Marfany G, et al. (2015) Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates. Plos One. 10: e0135307
Marfany G. (2015) Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions World Journal of Medical Genetics. 5: 14
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