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Eduard Serra

RMIT University

53

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Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.

2021 Human Genetics
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Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

2021 Scientific Reports
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Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.

2021 Journal of Medical Genetics
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HuR/ELAVL1 drives malignant peripheral nerve sheath tumour growth and metastasis.

2020 Journal of Clinical Investigation
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Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.

2020 Journal of Medical Genetics
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Modeling tumors of the peripheral nervous system associated with Neurofibromatosis type 1: Reprogramming plexiform neurofibroma cells.

2020 Stem Cell Research
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Genomics of Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1

2020
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Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

2019 Stem cell reports
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Author response for "Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules"

2019
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Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics context

2019 bioRxiv
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