Marta Martín-Sánchez

Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2024, Mobile DNA.

A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2020, International journal of molecular sciences.

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2018, Scientific Reports.

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

C. Méndez-Vidal, S. Borrego, G. Antiñolo, 2020, Journal of Translational Medicine.

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2015, BMC Medical Genetics.

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas

Cristina Y. González, Ignacio Medina, Marta Bleda, 2015, BMC Medical Genomics.