Concepedia

Silvestre Oltra

SO

41

Publications

1.4K

Citations

22

H-Index

2003

Active since

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Universitat de València

Instituto de Investigación Sanitaria La Fe

Leitat Technological Center

Centre for Biomedical Network Research on Rare Diseases

Silvestre Oltra is an author at Hospital Universitari i Politècnic La Fe specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2003–2022

41

Publications

41

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Francisco Martı́nez, Alfonso Caro‐Llopis, Mónica Rosello et al. · Journal of Medical Genetics · 2016 · 128 citations

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 125 citations · Full text

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

Elena Aller, Teresa Jaijo, Magdalena Beneyto et al. · Journal of Medical Genetics · 2006 · 79 citations · Full text

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

Adela Castillejo, Gardenia Vargas‐Parra, M.I. Castillejo et al. · European Journal of Cancer · 2014 · 78 citations

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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

Virginie Viprey, Maria Valeria Corrias, Bertil Kågedal et al. · European Journal of Cancer · 2006 · 64 citations

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