Concepedia

María José Aparisi

MJ

Statistics

Publications

9

Citations

318

H-Index

9

Active since

2010

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Instituto de Investigación Sanitaria La Fe

Centre for Biomedical Network Research on Rare Diseases

Instituto de Investigación de Enfermedades Raras

Centro de Investigación Biomédica en Red

María José Aparisi is an author at Hospital Universitari i Politècnic La Fe specializing in genetics, life sciences, and medical genetics.

ORCID

Publications per year

2010–2018

9

Publications

9

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María José Aparisi, Elena Aller, Carla Fuster‐García et al. · Orphanet Journal of Rare Diseases · 2014 · 83 citations · Full text

, , +16

Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome

Teresa Jaijo, Elena Aller, Gema García‐García et al. · Investigative Ophthalmology & Visual Science · 2010 · 64 citations

, , +17

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Gema García‐García, María José Aparisi, Teresa Jaijo et al. · Orphanet Journal of Rare Diseases · 2011 · 60 citations · Full text

, , +14

Identification of Large Rearrangements of the<i>PCDH15</i>Gene by Combined MLPA and a CGH: Large Duplications Are Responsible for Usher Syndrome

Elena Aller, Teresa Jaijo, Gema García‐García et al. · Investigative Ophthalmology & Visual Science · 2010 · 33 citations

, , +14

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

María José Aparisi, Gema García‐García, Elena Aller et al. · PLoS ONE · 2013 · 23 citations · Full text

, , +14

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