JUAN SILVESTRE OLTRA SOLER
PDI-Associat/Da Universitari/A
PDI-Associat/Da Universitari/A
Àrea de coneixement: GENÈTICA
Departament: Genètica
Departament: Genètica
Asignatures impartides i modalitats docents
Tutories
| 16/09/2024 - 16/05/2025 |
| JUEVES de 17:30 a 19:00 DESPATX Planta 6 FAC. BIOLÒGIQUES (BLOC B) |
| Observacions |
| Participa en el programa de tutories electròniques de la Universitat de València |
Publicacions en revistes
- C Iranzo Tatay, D Hervás Marin, LM Rojo Bofill, D García, FJ Vaz Leal, I Calabria, L Beato-Fernandez, S Oltra, J Sandoval, L Rojo-Moreno (2022) Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins. Translational Psychiatry, 12(1), p. 15 . ISSN: 2158-3188
- Pablo Gargallo; Silvestre Oltra; María Tasso; Julia Balaguer; Yania Yáñez; Sandra Dolz; Inés Calabria; Francisco Martínez; Vanessa Segura; Antonio Juan-Ribelles; Margarita Llavador; Victoria Castel; Adela Cañete; Jaime Font de Mora. (2022) Germline variant in Ctcf links mental retardation to Wilms tumor predisposition. European Journal of Human Genetics. ISSN: 1018-4813
- Gargallo P; Oltra S; Balaguer J; Barranco H; Yáñez Y; Segura V; Juan-Ribelles A; Calabria I; Llavador M; Castel V; Cañete A. (2021) Retinoblastoma and mosaic 13q deletion: a case report. International Journal of Retina and Vitreous, 7(50), pp. 1 - 6 . ISSN: 2056-9920
- Monfort, S; Orellana, C; Oltra, S; Rosello, M; Caro-Llopis, A; Martinez, F. (2021) Prevalence of pathogenic copy number variants among children conceived by donor oocyte. Scientific Reports, 11(6752) . ISSN: 2045-2322
- Gargallo P; Oltra S; Yáñez Y; Juan-Ribelles A; Calabria I; Segura V; Lázaro M; Balaguer J; Tormo T; Dolz S; Fernández JM; Fuentes C; Torres B; Andrés M; Tasso M; Castel V; Font de Mora J; Cañete A. (2021) Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care. Cancers, 13(21), p. 5339 . ISSN: 2072-6694
- Rosello M; Caro-Llopis A; Orellana C; Oltra S; Alemany-Albert M; Marco-Hernandez AV; Monfort S; Pedrola L; Martinez F; Tomás M. (2021) Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing. Pediatric Research, 90(2), pp. 284 - 288 . ISSN: 0031-3998
- Gargallo P;Yáñez Y; Juan A; Segura V; Balaguer J; Torres B; Oltra S; Castel V; Cañete A. (2020) Review: Ewing Sarcoma Predisposition. Pathology & Oncology Research, 26(4), pp. 2057 - 2066 . ISSN: 1219-4956
- Gargallo P; Yáñez Y ; Segura V ; Juan A ; Torres B ; Balaguer J ; Oltra S , Castel V , Cañete A (2020) Li-Fraumeni syndrome heterogeneity. Clinical & Translational Oncology, 22(7), pp. 978 - 988 . ISSN: 1699-048X
- Masip E; Donat E; Polo B; Oltra S; Ortega P; Ribes-Koninckx C. (2020) Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea. Journal of Pediatric Genetics, 9(1), pp. 44 - 47 . ISSN: 2146-4596
- Gallego Á; Rogel R; Pérez-Ardavín J; Lorenzo L; Lujan S; Oltra S; Molina I; Broseta E. (2019) Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes?. Archivos Españoles de Urologia, 72(10), pp. 1038 - 1042 . ISSN: 0004-0614
- Ramírez-Calvo M; García-Casado Z; Fernández-Serra A; de Juan I; Palanca S; Oltra S; Soto JL; Castillejo A; Barbera VM; Juan-Fita MJ; Segura Á; Chirivella I; Sánchez AB; Tena I; Chaparro C; Salas D; López-Guerrero JA. (2019) Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS). Hereditary Cancer In Clinical Practice, 17(3) . ISSN: 1731-2302
- Gargallo P; Oltra JS; Yáñez Y; Segura V; Balaguer J; Cañete A. (2018) Retinoblastoma: towards an earlier diagnosis. Archivos de la Sociedad Española de Oftalmología, 93(9), pp. 439 - 443 . ISSN: 0365-6691
- Martín I; Such E; Navarro B; Vicente A; López-Pavía M; Ibáñez M; Tormo M; Villamón E; Gómez-Seguí I; Luna I; Oltra S; Pedrola L; Sanz MA; Cervera J; Sanz G. (2017) Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS). Leukemia & Lymphoma, 58(7), pp. 1686 - 1693 . ISSN: 1042-8194
- Martínez F; Caro-Llopis A; Roselló M; Oltra S; Mayo S; Monfort S; Orellana C. (2017) High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. Journal of Medical Genetics, 54(2), pp. 87 - 92 . ISSN: 0022-2593
- Mayo S; Monfort S; Roselló M; Orellana C; Oltra S; Caro-Llopis A; Martínez F. (2017) Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability. International Journal of Genomics, 2017(4798474) . ISSN: 2314-436X
- Caro-Llopis A; Rosello M; Orellana C; Oltra S; Monfort S; Mayo S; Martinez F. (2016) De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?. Pediatric Research, 80(6), pp. 809 - 815 . ISSN: 0031-3998
- Yáñez Y, Hervás D, Grau E, Oltra S, Perez G, Palanca S, Bermúdez M, Márquez C, Cañete A, Castel V. (2016) TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients. Journal of Cancer Research and Clinical Oncology, 142(3), pp. 573 - 580 . ISSN: 0171-5216
- O'Rawe JA; Wu Y; Dörfel MJ; Rope AF; Au PY; Parboosingh JS; Moon S; Kousi M; Kosma K; Smith CS; Tzetis M; Schuette JL; Hufnagel RB; Prada CE; Martinez F; Orellana C; Crain J; Caro-Llopis A; Oltra S; Monfort S; Jiménez-Barrón LT; Swensen J; Ellingwood S; Smith R; Fang H; Ospina S; Stegmann S; Den Hollander N; Mittelman D; Highnam G; Robison R; Yang E; Faivre L; Roubertie A; Rivière JB; Monaghan KG; Wang K; Davis EE; Katsanis N; Kalscheuer VM; Wang EH; Metcalfe K; Kleefstra T; Innes AM; Kitsiou-Tzeli S; Rosello M; Keegan CE; Lyon GJ. (2015) TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. American Journal of Human Genetics, 97(6), pp. 922 - 932 . ISSN: 0002-9297
- Martinez F; Marín-Reina P; Sanchis-Calvo A; Perez-Aytés A; Oltra S; Roselló M; Mayo S; Monfort S; Pantoja J; Orellana C. (2015) Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatric Research, 78(5), pp. 533 - 539 . ISSN: 0031-3998
- Mayo S; Roselló M; Monfort S; Oltra S; Orellana C; Martínez F. (2015) Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder. Genetics in Medicine, 17(8), pp. 683 - 684 . ISSN: 1098-3600
- Orellana C; Roselló M; Monfort S; Mayo S; Oltra S; Martínez F. (2015) Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome. American Journal Of Medical Genetics. Part A, 167(7), pp. 1614 - 1620 . ISSN: 1552-4825
- Preiksaitiene E; Caro A; Benu¿ienė E; Oltra S; Orellana C; Morkūnienė A; Roselló MP; Kasnauskiene J; Monfort S; Kučinskas V; Mayo S; Martinez F. (2015) A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. American Journal Of Medical Genetics. Part A, 167(6), pp. 1342 - 1348 . ISSN: 1552-4825
- Ejarque I; Millán-Salvador JM; Oltra S; Pesudo-Martínez JV; Beneyto M; Pérez-Aytés A. (2015) Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway. Revista de neurología, 60(9), pp. 408 - 412 . ISSN: 0210-0010
- Mayo S; Monfort S; Roselló M; Oltra S; Orellana C; Martínez F. (2015) In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients. Biomed Research International, 2015(2015:341986) . ISSN: 2314-6133
- Castillejo A; Vargas G; Castillejo MI; Navarro M; Barberá VM; González S; Hernández-Illán E; Brunet J; Ramón y Cajal T; Balmaña J; Oltra S; Iglesias S; Velasco A; Solanes A; Campos O; Sánchez Heras AB; Gallego J; Carrasco E; González Juan D; Segura A; Chirivella I; Juan MJ; Tena I; Lázaro C; Blanco I; Pineda M; Capellá G; Soto JL. (2014) Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. European Journal of Cancer, 50(13), pp. 2241 - 2250 . ISSN: 0959-8049
- Roselló M; Martínez F; Monfort S; Mayo S; Oltra S; Orellana C. (2014) Phenotype profiling of patients with intellectual disability and copy number variations. European Journal Of Paediatric Neurology, 18(5), pp. 558 - 566 . ISSN: 1090-3798
- López-Carrasco A; Monfort S; Roselló M; Oltra S; Mayo S; Martínez F; Orellana C. (2014) Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence. Medicina Clínica, 142(12), pp. 531 - 537 . ISSN: 0025-7753
- Martínez F; Roselló M; Mayo S; Monfort S; Oltra S; Orellana C. (2014) Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene. American Journal Of Medical Genetics. Part A, 164A(4), pp. 918 - 923 . ISSN: 1552-4825
- Grau E; Oltra S; Orellana C; Hernández-Martí M; Castel V; Martínez F. (2015) There is no evidence that the SDHB gene is involved in neuroblastoma development. Oncology Research, 15(7-8), pp. 393 - 398 . ISSN: 0965-0407
- Alba Gabaldon-Albero; Lourdes Cordon; Amparo Sempere; Laia Pedrola; Carla Martin-Grau; Silvestre Oltra; Sandra Monfort; Alfonso Caro-Llopis; Marta Dominguez-Martinez; Sara Hernandez-Muela; Monica Rosello; Carmen Orellana; Francisco Martinez (2024) Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern. Genes, 15(6), p. 802 . ISSN: 2073-4425
Línies d'activitat
- Bases Genéticas de los trastornos del neurodesarrollo. Grupo de Investigación Transaccional en Genética, IIS La Fe. . (01/03/2000).
- Cancer pediátrico. Grupo de Investigación Transaccional en Genética, IIS La Fe. . (01/03/2000).
- Cáncer Hereditario. Grupo de Investigación Transaccional en Genética, IIS La Fe. . (04/05/2005).
- Bases genéticas de las enfermedades raras. Grupo de Investigación Transaccional en Genética, IIS La Fe. . (01/03/2000).
Projectes
- Estudio piloto de secuenciación masiva centrada en secuencias de alto interés para el diagnóstico genético de la discapacidad intelectual (Ciencia y Tecnología). 2012 - 2014. Ministerio de Ciencia e Innovación. . IP: Francisco Martínez Castellano.
- Acción Perparatoria: Celulas madre neuronales inducidas para el estudio de trastornos del espectro autista (). 2015. Universitat de València-VLC-Biomed-IIS-La Fe. . IP: Francisco Martínez Castellano.
- La ruta de la oxitocina en los trastornos del espectro autista: importancia de las variantes genéticas con relevancia funcional (). 2015 - 2017. Fundación Alicia Koplowitz. . IP: Carmen Orellana Alonso.
- Study of transtheretin gene in familial amyloid Polyneuropathy (). 2015 - 2016. Pfizer. . IP: Carmen Orellana Alonso.
- Comprehensive, Integrative and Genomic Approach to the Understanding and Treatment of Cancer and Leukemia (). 2013 - 2016. ISCIII. . IP: Miguel Angel Sanz.
- Abordaje genómico para la identificación de nuevos genes y módulos funcionales responsables de discapacidad intelectual grave (Ciencia y Tecnología). 2015 - 2017. ISCIII, Ministerio de Ciencia e Innovación. . IP: Francisco Martínez Castellano.
- Medicina de precisión en recaídas de cáncer pediátrico neuroblástico mediante secuenciacion masiva de nueva generación (ngs) (Projectes d'Investigació (Generalitat Valenciana)). 2018. GVA. . IP: Inés Calabria.
- Nueva aproximación genómica para el diagnóstico de autismo y discapacidad intelectual: importancia de las mutaciones adquiridas en mosaicismo somático y de nuevos genes candidatos (). 2018 - 2022. Fundación Mutua Madrileña. . IP: Sandra Monfort Membrado.
- Caracterización clínica de los resultados ómicos: reanálisis, nuevos fenotiposaléicos y nuevos genes patológicos (Ayudas para proyectos de investigación del área de Ciencias de la Salud (FIS)). 2023 - 2025. Instituto de Salud Carlos III, Fondo de Investigación Sanitaria (FIS).. . IP: FRANCISCO MARTINEZ CASTELLANO.
- Diagnóstico genético de anomalías estructurales fetales mediante secuenciación del genoma completo: rendimiento diagnóstico en contexto prenatal (Ayudas para proyectos de investigación del área de Ciencias de la Salud (FIS)). 2023 - 2025. Fondo de Investigación Sanitario. Instituto de Salud Carlos III. . IP: Laia Pedrola Vidal/ Carmen Orellana Alonso.
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