Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements

Transposable Elements and Human Diseases: Mechanisms and Implication in the Response to Environmental Pollutants

(2022) Benoît Chénais   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

(2022) André Leier et al.   Molecular Therapy-Nucleic Acids

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

(2022) Viola Alesi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

(2022) Hannie C.W. Douben et al.   HUMAN MUTATION

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

(2021) Eric Legius et al.   GENETICS IN MEDICINE

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

(2021) R. Koster et al.   npj Genomic Medicine

Our Conflict with Transposable Elements and Its Implications for Human Disease

(2020) Kathleen H. Burns   Annual Review of Pathology-Mechanisms of Disease

Neurofibromatosis type 1

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

Roles for retrotransposon insertions in human disease

(2016) Dustin C. Hancks et al.   Mobile DNA

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

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing

(2014) WEIHONG XU et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

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

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

(2011) Katharina Wimmer et al.   PLoS Genetics