List of works by Eduard Serra

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

scientific article

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

scientific article

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

scientific article published on 02 June 2011

Analysis of intra-tumor heterogeneity in Neurofibromatosis Type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.

scientific article

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

scientific article published on 04 January 2017

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

scientific article published on March 2000

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

scientific article published on 10 January 2018

Epigenetic induction of the Ink4a/Arf locus prevents Schwann cell overproliferation during nerve regeneration and after tumorigenic challenge

scientific article published on 6 June 2013

Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis

scientific article published on 19 May 2013

HuR/ELAVL1 drives malignant peripheral nerve sheath tumour growth and metastasis

scientific article published on 21 April 2020

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

scientific article published on 28 November 2012

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

scientific article

KIF11 and KIF15 mitotic kinesins are potential therapeutic vulnerabilities for malignant peripheral nerve sheath tumors

scientific article published on 04 January 2020

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

article by Ludwine Messiaen et al published 28 January 2011 in Human Mutation

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules

scientific article published on 12 December 2019

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

scientific article published in January 2000

NF1mutation rather than individual genetic variability is the main determinant of theNF1-transcriptional profile of mutations affecting splicing

scientific article published on 01 November 2006

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

scientific article published on 01 September 2008

Negative feedback that improves information transmission in yeast signalling

scientific article published on December 2008

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

scientific article

Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis

scientific article

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

scientific article published in June 2003

Regulated cell-to-cell variation in a cell-fate decision system

scientific article

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

scientific article published on 31 January 2019

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

article

The Alpha Project: a model system for systems biology research.

scientific article

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients

scientific article published on 01 September 2007

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

scientific article published on 31 October 2007

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

scientific article published on 11 February 2021

regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests

scientific article published on 30 September 2015

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