Associated Papers
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
41289058 (PubMed )
Supplement: deaf224_supplementary_table_s1.pdf
Utility of Clinical Next Generation Sequencing Tests in KIT/PDGFRA/SDH Wild-Type Gastrointestinal Stromal Tumors.
Denu RA et al.
Cancers, 2024
38730662 (PubMed )
Supplement: cancers-16-01707-s001.zip › cancers-2942643-supplementary.pdf
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
35846154 (PubMed )
Supplement: Table3.XLSX › LUSC_DNA_only
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants
Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants.
Kluwe L et al.
American Journal of Medical Genetics. Part A, 2021
Targeted Deep Sequencing Uncovers Cryptic KIT Mutations in KIT/PDGFRA/SDH/RAS-P Wild-Type GIST.
Astolfi A et al.
Frontiers in Oncology, 2020
NF1 Mutations Are Common in Desmoplastic Melanoma.
Wiesner T et al.
The American Journal of Surgical Pathology, 2015
A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition.
Whittaker SR et al.
Cancer Discovery, 2013
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.
Thomas L et al.
Neurogenetics, 2010
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Messiaen LM et al.
Human Mutation, 2000
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