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
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S1-All_samples
Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.
Wang R et al.
Orphanet Journal of Rare Diseases, 2025
40462134 (PubMed )
Supplement: 13023_2025_3759_MOESM2_ESM.xlsx › Sheet1
MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.
Cai X et al.
Bmc Cancer, 2024
39528978 (PubMed )
Supplement: 12885_2024_13163_MOESM1_ESM.xlsx › SNVs
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
Lucas CG et al.
Acta Neuropathologica, 2022
35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S5
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_5
Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.
Chai P et al.
Bmc Medical Genetics, 2019
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars E et al.
Journal of Medical Genetics, 2003
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