Rebeca Álvarez
Hospital Universitario Fundación Jiménez Díaz(ES)Instituto de Medicina Genómica(ES)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Cancer Genomics and Diagnostics, Lung Cancer Treatments and Mutations, Retinal Development and Disorders, Genetic factors in colorectal cancer
Most-Cited Works
- → Néstor–Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations(2011)152 cited
- → Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients(2018)100 cited
- → Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa(2008)39 cited
- → Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas(2011)22 cited
- → Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options(2020)15 cited
- → A novel molecular diagnostics platform for somatic and germline precision oncology(2017)13 cited
- → Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype(2005)10 cited
- → Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy(2022)5 cited
- → Five years’ experience of the clinical exome sequencing in a Spanish single center(2022)2 cited
- → 1 Feasibility of large-scale genomic testing to facilitate enrollment on genomically-matched clinical trials(2014)1 cited