Silvestre Oltra
Hospital Universitari i Politècnic La Fe(ES)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics, Genomics and Rare Diseases
Most-Cited Works
- → High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing(2016)128 cited
- → TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations(2015)125 cited
- → Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum(2008)97 cited
- → Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II(2006)79 cited
- → Prevalence of germline MUTYH mutations among Lynch-like syndrome patients(2014)78 cited
- → Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: Quality assurance on behalf of SIOPEN-R-NET(2006)64 cited
- → Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments(2004)60 cited
- → Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes(2008)50 cited
- → Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes(2015)49 cited
- → Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I(2006)48 cited