TY  - JOUR
AU  - González-Del Pozo, María
AU  - Fernández-Suárez, Elena
AU  - Martín-Sánchez, Marta
AU  - Bravo-Gil, Nereida
AU  - Méndez-Vidal, Cristina
AU  - Rodríguez-de la Rúa, Enrique
AU  - Borrego, Salud
AU  - Antiñolo, Guillermo
PY  - 2020
DO  - 10.1186/s12967-020-02258-3
UR  - http://hdl.handle.net/10668/15096
T2  - Journal of translational medicine
AB  - Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inherited blindness. Despite the large number of genes identified, only ~ 60% of cases receive a genetic diagnosis using targeted-sequencing. The aim of...
LA  - en
KW  - ADGRV1
KW  - Inherited retinal dystrophies
KW  - NGS
KW  - PDZD7
KW  - Retinitis Pigmentosa
KW  - USH2A
KW  - WGS
KW  - Algorithms
KW  - DNA Mutational Analysis
KW  - Humans
KW  - Mutation
KW  - Pedigree
KW  - Retinitis Pigmentosa
KW  - Whole Genome Sequencing
TI  - Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
TY  - research article
VL  - 18
ER  -