Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.
Idrissova Z et al.
Genes, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.
Kafshboran HR et al.
Global Medical Genetics, 2025
Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.
Park C et al.
Esmo Open, 2025
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R et al.
Npj Genomic Medicine, 2021
Assay Complementarity to Overcome False-Negative Testing for Microsatellite Instability/Mismatch Repair Deficiency: A Pembrolizumab-Sensitive Intimal Sarcoma.
Henick BS et al.
Jco Precision Oncology, 2020
Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.
Barresi V et al.
Cancers, 2019
TRIM28 haploinsufficiency predisposes to Wilms tumor.
Diets IJ et al.
International Journal of Cancer, 2019
Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1.
Marwaha A et al.
The British Journal of Dermatology, 2018
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Anastasaki C et al.
Neurology. Genetics, 2017
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Nemethova M et al.
Annals of Human Genetics, 2013
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Griffiths S et al.
Familial Cancer, 2007
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
Maertens O et al.
Human Mutation, 2006