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María José Gamundi

Observed names: M J Gamundi, MJ Gamundi, Maria J. Gamundi, Maria Jose Gamundi Rodriguez, Maria José Gamundi, Mari´a Jose´ Gamundi, María J Gamundi
ORCID: 0000-0003-4834-5369
Observed ORCID: 0000-0003-4834-5369
OpenAlex ID: A5006414653
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
2021 · Irene Perea-Romero, Gema Gordo, et al. · Scientific Reports · 147
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Mutations in the Pre-mRNA Splicing-Factor Genes PRPF3 , PRPF8 , and PRPF31 in Spanish Families with Autosomal Dominant Retinitis Pigmentosa
2003 · Mari´a Marti´nez-Gimeno, Mari´a Jose´ Gamundi, et al. · Investigative Ophthalmology & Visual Science · 103
Clinical pharmacogenomic testing of KRAS, BRAF and EGFRmutations by high resolution melting analysis and ultra-deep pyrosequencing
2011 · Emma Borràs, Ismael Jurado, et al. · BMC Cancer · 90
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Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing
2012 · Imma Hernan, Emma Borràs, et al. · Journal of Molecular Diagnostics · 51
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Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts
2012 · Nadia A. Akawi, Fuat E. Canpolat, et al. · Human Mutation · 48
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Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
2008 · S Bernal, T Solans, et al. · Clinical Genetics · 44
De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome
2004 · I Hernan, I Roig, et al. · Clinical Genetics · 43
Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa
2008 · María José Gamundi, Imma Hernan, et al. · Human Mutation · 41
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
2007 · María José Gamundi, Imma Hernan, et al. · PubMed Central · 37
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
2013 · Elena Millá, Begoña Mañé, et al. · Europe PMC (PubMed Central) · 32
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
2017 · Silvia Vidal, Núria Brandi, et al. · Scientific Reports · 28
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Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
2013 · Miguel de Sousa Dias, Imma Hernan, et al. · Europe PMC (PubMed Central) · 24
[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].
2002 · E Millá, M Maseras, et al. · PubMed · 24
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
2019 · Clara Xiol, Silvia Vidal, et al. · Scientific Reports · 23
Cellular Expression and siRNA-Mediated Interference of Rhodopsin cis -Acting Splicing Mutants Associated with Autosomal Dominant Retinitis Pigmentosa
2011 · Imma Hernan, María José Gamundi, et al. · Investigative Ophthalmology & Visual Science · 22
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
2006 · María José Gamundi, Imma Hernan, et al. · BMC Medical Genetics · 21
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Novel p.M96T variant of NRL and shRNA‐based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa
2011 · I Hernan, MJ Gamundi, et al. · Clinical Genetics · 17
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
2021 · Irene Perea-Romero, Gema Gordo, et al. · Scientific Reports · 14
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Functional analysis of splicing mutations in MYO7A and USH2A genes
2010 · T Jaijo, E Aller, et al. · Clinical Genetics · 14
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
2007 · Elena Millá, Imma Hernan, et al. · PubMed Central · 13
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
2005 · María José Gamundi, Imma Hernan, et al. · PubMed · 13
Detection of novel genetic variation in autosomal dominant retinitis pigmentosa
2013 · E Borràs, M de Sousa Dias, et al. · Clinical Genetics · 11
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
2015 · Miguel de Sousa Dias, Imma Hernan, et al. · Europe PMC (PubMed Central) · 6
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
2024 · Elena Milla, Javier Laguna, et al. · PLoS ONE · 5
Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort
2017 · Elena Milla, Maria José Gamundi, et al. · Journal of Ophthalmology · 4
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Works count: 33
Citation count: 882
H-index: 17
I10-index: 22
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