Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis

(2021) Rebecca B. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Optical genome mapping enables constitutional chromosomal aberration detection

(2021) Tuomo Mantere et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2021) Eric Legius et al.   GENETICS IN MEDICINE

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

(2021) Mariangela Sabatella et al.   JOURNAL OF PATHOLOGY

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

(2019) Magdalena Koczkowska et al.   HUMAN MUTATION

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

(2018) Magdalena Koczkowska et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

(2017) Francesco Calì et al.   European Journal of Medical Genetics

Prevalence of neurofibromatosis type 1 in the Finnish population

(2017) Roope A Kallionpää et al.   GENETICS IN MEDICINE

Emerging genotype–phenotype relationships in patients with large NF1 deletions

(2017) Hildegard Kehrer-Sawatzki et al.   HUMAN GENETICS

Neurofibromatosis type 1

(2017) David H. Gutmann et al.   Nature Reviews Disease Primers

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

(2016) Miriam J. Smith et al.   HUMAN MUTATION

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

(2016) D.G. Evans et al.   EBioMedicine

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

(2015) Kitiwan Rojnueangnit et al.   HUMAN MUTATION

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

(2014) M. Ruggieri et al.   CLINICAL GENETICS

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

(2014) Eric Pasmant et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

(2011) María Carmen Valero et al.   JOURNAL OF MOLECULAR DIAGNOSTICS