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S. Oltra · SciRah

Researcher profile · Semantic Scholar

S. Oltra

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S. Oltra — researcher profile on SciRah

h-index: 24
Works: 83
Citations: 1,687

Most-cited papers

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Jason A. O'Rawe, Yi-Yang Wu, M. Dörfel, A. Rope +44 more
2015American Journal of Human Genetics116 citations Open access
Semantic Scholar
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
F. Martínez, A. Caro-Llopis, M. Roselló, S. Oltra +3 more
2016Journal of Medical Genetics113 citations
Semantic Scholar
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
A. Castillejo, Gardenia Vargas, M. Castillejo, M. Navarro +24 more
2014European Journal of Cancer79 citations
Semantic Scholar
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
E. Aller, T. Jaijo, M. Beneyto, C. Nájera +12 more
2006Journal of Medical Genetics79 citations Open access
Semantic Scholar
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.
V. Viprey, M. Corrias, B. Kågedal, S. Oltra +4 more
2007European Journal of Cancer70 citations
Semantic Scholar
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes
S. Monfort, M. Roselló, C. Orellana, S. Oltra +5 more
2008Journal of Medical Genetics51 citations
Semantic Scholar
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
T. Jaijo, E. Aller, S. Oltra, M. Beneyto +11 more
2006Human Mutation51 citations Open access
Semantic Scholar
Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease
E. Grau, F. Martínez, C. Orellana, A. Cañete +6 more
2011Molecular Carcinogenesis50 citations
Semantic Scholar
The Doublecortin Gene, A New Molecular Marker to Detect Minimal Residual Disease in Neuroblastoma
S. Oltra, F. Martínez, C. Orellana, E. Grau +3 more
2005Diagnostic molecular pathology (Print)49 citations
Semantic Scholar
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
F. Martínez, Purificación Marín-Reina, Amparo Sanchís-Calvo, A. Pérez-Aytés +6 more
2015Pediatric Research45 citations
Semantic Scholar
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing
M. Roselló, A. Caro-Llopis, C. Orellana, S. Oltra +6 more
2020Pediatric Research42 citations
Semantic Scholar
Mutation screening of USH3 gene (clarin‐1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability
E. Aller, T. Jaijo, S. Oltra, J. Alio +4 more
2004Clinical Genetics42 citations
Semantic Scholar
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
A. Caro-Llopis, M. Roselló, C. Orellana, S. Oltra +3 more
2016Pediatric Research41 citations
Semantic Scholar
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation
I. Martinez-Garay, M. Tomás, S. Oltra, J. Ramser +5 more
2007European Journal of Human Genetics38 citations Open access
Semantic Scholar
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.
S. Monfort, C. Orellana, S. Oltra, M. Roselló +2 more
2006Journal of Laboratory and Clinical Medicine37 citations
Semantic Scholar
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin–Lowry syndrome
I. Martinez-Garay, M. J. Ballesta, S. Oltra, C. Orellana +4 more
2003Clinical Genetics35 citations
Semantic Scholar
TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients
Y. Yáñez, D. Hervás, E. Grau, S. Oltra +6 more
2016Journal of Cancer Research and Clinical Oncology34 citations Open access
Semantic Scholar
Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
C. Orellana, J. Bernabeu, S. Monfort, M. Roselló +5 more
2007Journal of Medical Genetics34 citations Open access
Semantic Scholar
Li–Fraumeni syndrome heterogeneity
P. Gargallo, Y. Yáñez, V. Segura, A. Juan +5 more
2019Clinical and Translational Oncology33 citations
Semantic Scholar
Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44
C. Orellana, M. Roselló, S. Monfort, S. Oltra +3 more
2010Cytogenetic and Genome Research33 citations
Semantic Scholar
Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma
Y. Yáñez, E. Grau, S. Oltra, A. Cañete +5 more
2011Journal of Cancer Research and Clinical Oncology28 citations Open access
Semantic Scholar
De novo Interstitial Triplication of MECP2 in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation
S. Mayo, S. Monfort, M. Roselló, C. Orellana +4 more
2011Cytogenetic and Genome Research26 citations
Semantic Scholar
Review: Ewing Sarcoma Predisposition
P. Gargallo, Y. Yáñez, A. Juan, V. Segura +5 more
2019Pathology and Oncology Research25 citations
Semantic Scholar
Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients
E. Grau, Francisco Martínez, C. Orellana, Adela Cañete +6 more
2010Journal of Cancer Research and Clinical Oncology24 citations Open access
Semantic Scholar
Phenotype profiling of patients with intellectual disability and copy number variations.
M. Roselló, F. Martínez, S. Monfort, S. Mayo +2 more
2014European journal of paediatric neurology23 citations
Semantic Scholar
Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions
C. Camprubí, M. Guitart, E. Gabau, M. Coll +7 more
2009American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies
F. Martínez, S. Monfort, M. Roselló, S. Oltra +4 more
2010BMC Medical Genomics19 citations Open access
Semantic Scholar
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
F. Oeffner, F. Martínez, J. Schaffer, A. Salhi +8 more
2011Experimental Dermatology18 citations Open access
Semantic Scholar
MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors
E. Grau, S. Oltra, F. Martínez, C. Orellana +4 more
2009Journal of Cancer Research and Clinical Oncology18 citations Open access
Semantic Scholar
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
P. Gargallo, S. Oltra, Y. Yáñez, A. Juan-Ribelles +14 more
2021Cancers17 citations Open access
Semantic Scholar
Mutation screening of AURKB and SYCP3 in patients with reproductive problems.
Amparo López-Carrasco, S. Oltra, S. Monfort, S. Mayo +3 more
2013Molecular human reproduction17 citations
Semantic Scholar
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome
C. Orellana, M. Roselló, S. Monfort, S. Mayo +2 more
2015American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Rapid screening of ASXL1, IDH1, IDH2, and c-CBL mutations in de novo acute myeloid leukemia by high-resolution melting.
M. Ibáñez, E. Such, J. Cervera, I. Luna +15 more
2012Journal of Molecular Diagnostics16 citations Open access
Semantic Scholar
There is no evidence that the SDHB gene is involved in neuroblastoma development.
E. Grau, S. Oltra, C. Orellana, M. Hernández-Martí +2 more
2005Oncology Research16 citations Open access
Semantic Scholar
Minimal residual disease in neuroblastoma: to GAGE or not to GAGE.
S. Oltra, Francisco Martínez, C. Orellana, E. Grau +3 more
2004Oncology Research16 citations Open access
Semantic Scholar
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)
Marta Ramírez-Calvo, Z. García-Casado, A. Fernández-Serra, I. D. de Juan +13 more
2019Hereditary Cancer in Clinical Practice14 citations Open access
Semantic Scholar
Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)
Iván Martín, E. Such, B. Navarro, A. Vicente +11 more
2017Leukemia and Lymphoma14 citations
Semantic Scholar
WT1 isoform expression pattern in acute myeloid leukemia.
I. Luna, E. Such, J. Cervera, E. Barragán +16 more
2013Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis14 citations
Semantic Scholar
Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion
M. Roselló, S. Monfort, C. Orellana, I. Ferrer-Bolufer +3 more
2009Cytogenetic and Genome Research14 citations
Semantic Scholar
Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci
S. Monfort, D. Blesa, M. Roselló, C. Orellana +3 more
2007American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
Genome-wide DNA methylation profiling in anorexia nervosa discordant identical twins
C. Iranzo-Tatay, D. Hervás-Marín, L. Rojo-Bofill, D. García +6 more
2022Translational Psychiatry13 citations Open access
Semantic Scholar
Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability
S. Mayo, S. Monfort, M. Roselló, C. Orellana +3 more
2017International Journal of Genomics13 citations Open access
Semantic Scholar
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
I. Ejarque, J. M. Millán-Salvador, S. Oltra, J. V. Pesudo-Martínez +2 more
2015Revista de neurología (Ed. impresa)13 citations
Semantic Scholar
Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification.
P. Casaña, S. Haya, A. Cid, S. Oltra +3 more
2009Translational Research: The Journal of Laboratory and Clinical Medicine13 citations
Semantic Scholar
Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts.
A. Valencia, J. Cervera, E. Such, M. Ibáñez +6 more
2011Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis12 citations
Semantic Scholar
Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder
S. Mayo, M. Roselló, S. Monfort, S. Oltra +2 more
2015Genetics in Medicine11 citations Open access
Semantic Scholar
Duplication at Xq13.3–q21.1 with syndromic intellectual disability, a probable role for the ATRX gene
F. Martínez, M. Roselló, S. Mayo, S. Monfort +2 more
2014American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain
E. Nagore, A. Montoro, S. Oltra, E. Ledesma +5 more
2005Melanoma research11 citations
Semantic Scholar
Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report
R. Quiroga, S. Monfort, S. Oltra, I. Ferrer-Bolufer +4 more
2011Cytogenetic and Genome Research10 citations
Semantic Scholar
Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma
E. Grau, J. Balaguer, Adela Cañete, Francisco Martínez +4 more
2009Journal of Neuro-Oncology10 citations
Semantic Scholar

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