Hilde Brems

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

Pregnancy After Breast Cancer in Young <i>BRCA </i>Carriers

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

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

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

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

A Patient with neonatal cholestasis.

Analysis of 108 patients with endometrial carcinoma using the PROMISE classification and additional genetic analyses for MMR-D

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

Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism

Patient-derived organoids from endometrial disease capture clinical heterogeneity and are amenable to drug screening

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1–associated atypical neurofibromas

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors

Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1

Multiple pilomatricomas with somatic <i>CTNNB1</i> mutations in children with constitutive mismatch repair deficiency

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Review and update of<i>SPRED1</i>mutations causing legius syndrome