Marta Martín-Sánchez

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

Nereida Bravo‐Gil, María González‐del Pozo, Marta Martín-Sánchez et al. · Scientific Reports · 2017 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

María González‐del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez et al. · Journal of Translational Medicine · 2020 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

María González‐del Pozo, Marta Martín-Sánchez, Nereida Bravo‐Gil et al. · Scientific Reports · 2018 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

María González‐del Pozo, Elena Fernández-Suárez, Nereida Bravo‐Gil et al. · npj Genomic Medicine · 2022 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Berta Luzón‐Toro, Marta Bleda, Elena Navarro et al. · BMC Medical Genomics · 2015 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17