The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …

Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to
genetic alterations, but identifying the genes responsible has proved challenging …

Abstract In 5‐10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions
that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent …

Simple Summary In the last few years, an increasing number of genotype–phenotype
correlations has been described for neurofibromatosis type 1 (NF1), impacting on the clinical …

Abstract Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of
neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c. 5425C> T missense …

We developed an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data
to identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may …

During the past five years, copy number variation (CNV) has emerged as a highly prevalent
form of genomic variation, bridging the interval between long-recognised microscopic …

Simple Summary Malignant peripheral nerve sheath tumor (MPNST) is a soft tissue sarcoma
with limited therapeutic interventions and a poor prognosis. This review summarized the …

Background Large deletions of the NF1 gene region occur in∼ 5% of patients with
neurofibromatosis type-1 (NF1) and are associated with particularly severe manifestations of …

Materials and Methods We reviewed all clinical charts of 1102 NF1 patients followed by
February 1983 to February 2020 at the “Sapienza” University of Rome, Italy. NF1 patients …