Marta Del Pozo-Valero

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 11

Top Topics

Intellectual Disability

Dna Methylation

Diabetic Retinopathy

Top Venues

International journal of molecular sciences

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfriede De Baere
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clinical genetics 106 (2) (2024)
Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfriede De Baere
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clinical genetics (2024)
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo Fernández, María Pilar Martin-Gutierrez, Pablo Mínguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 25 (5) (2024)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Corton, Carmen Ayuso, Pablo Mínguez
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International journal of molecular sciences 24 (2) (2023)
Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, Stéphanie S Cornelis, Carmen Ayuso, Frans P M Cremers, Susanne Roosing, null The Abca Study Group
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. Human mutation 40 (12) (2019)