Eric Legius

Novel Identical Likely Pathogenic ACTB Variant in Congenital Smooth Muscle Hamartoma: A Report of Two Pediatric Cases.

[Pigmentary mosaicism: a literature review].

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.

Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour.

Reply to Taal et al. Comment on "Iasella et al. Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour. <i>Cancers</i> 2025, <i>17</i>, 1306".

Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases

Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration

Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the <i>NF1</i> gene.

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

SREBP modulates the NADP⁺/NADPH cycle to control night sleep in Drosophila.

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Revised diagnostic criteria and nomenclature for neurofibromatosis 2 and schwannomatosis: an international consensus recommendation (S27.003)

A detailed landscape of genomic alterations in malignant peripheral nerve sheath tumor cell lines challenges the current MPNST diagnosis

Soft tissue and visceral sarcomas: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up☆

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Gastrointestinal stromal tumours: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Bone sarcomas: ESMO–EURACAN–GENTURIS–ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Impaired instrumental learning in Spred1^-/- mice, a model for a rare RASopathy.

A Patient with neonatal cholestasis.

A Patient with neonatal cholestasis.

Advancing <scp>RAS/RASopathy</scp> therapies: An NCI‐sponsored intramural and extramural collaboration for the study of <scp>RASopathies</scp>

Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of <scp>gastrointestinal stromal tumor</scp>