- ORCID iD
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0000-0002-7768-4549
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Unmasking NF1 mosaicism : optical genome mapping identifies a novel t(15;17) translocation in melanocytes
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- Journal Article
- A1
- open access
Synergistic inhibition of CHK1 and MUS81 to combat replication stress resistance in high-risk neuroblastoma
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Enhancing molecular diagnosis of neurofibromatosis type 1 : cultured melanocytes unveil somatic mosaicism in patients screened negative in blood samples
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1381-1381 -
Harnessing cDNA analysis to enhance variant classification in cancer predisposition genes
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1273-1273 -
Asymmetric kidney cysts in a patient with negative family history
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- Journal Article
- A1
- open access
SOX11 regulates SWI/SNF complex components as member of the adrenergic neuroblastoma core regulatory circuitry
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Cellular senescence in neuroblastoma
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- Journal Article
- A1
- open access
MYCN-induced nucleolar stress drives an early senescence-like transcriptional program in hTERT-immortalized RPE cells
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SOX11 as guardian of epigenetic plasticity in neuroblastoma
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Recurrent chromosomal imbalances provide selective advantage to human embryonic stem cells under enhanced replicative stress conditions