Author

Ana Arteche‐López

Hospital Universitario 12 De OctubreORCID 0000-0002-4806-9774Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:differential expression· 1 Approach:statistical model· 1

Frequent Co-Authors

Antonio Federico Martínez‐MonsenyiD· 2 shared Dídac Casas‐AlbaiD· 2 shared Fernando Santos‐SimarroiD· 2 shared Juan Francisco Quesada‐EspinosaiD· 2 shared María Palomares‐BraloiD· 2 shared Marta Pacio MigueziD· 2 shared Aina Prat-PlanasiD· 1 shared Aitor López-González· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Antonio Federico Martínez‐MonsenyORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review.

Carmen Palma Milla, Aina Prat-Planas, Emma Soengas‐Gonda, Mónica Centeno-Pla, Jaime Sánchez-Pozo, Irene Rodríguez, Juan Francisco Quesada‐Espinosa, Ana Arteche‐López, Jonathan Olival, Marta Pacio Miguez, María Palomares‐Bralo, Fernando Santos‐Simarro, Ramón Cancho Candela, María Vázquez López, Verónica Seidel, , Roser Urreizti

This paper reports eleven new TRAF7 syndrome cases, expands the phenotypic spectrum, and highlights clinical complications requiring tailored management.

medRxiv · Dec 13, 2023 · PreprintGenetic & Genomic Medicine

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina López‐Grondona, Saoud Tahsin Swafiri, Rosario López‐Rodríguez, Rebeca Losada-Del Pozo, Ignacio Mahíllo, Beatriz Moreno, María Rodrigo-Moreno, Dídac Casas‐Alba, Aitor López-González, Sixto García‐Miñáur, María Ángeles Mori, Marta Pacio Miguez, Emi Rikeros‐Orozco, , Berta Almoguera

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.

Journal of Medical Genetics · Nov 29, 2022Peer-reviewedGenetic & Genomic Medicine