Associated Papers
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 2025
Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration.
Hirata Y et al.
The Journal of Biological Chemistry, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2
Undiagnosed RASopathies in infertile men.
Juchnewitsch AG et al.
Frontiers in Endocrinology, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.
Yang LP et al.
Cell Reports. Medicine, 2023
37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Legius syndrome: case report and review of literature.
Benelli E et al.
Italian Journal of Pediatrics, 2015
Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S et al.
Clinical Genetics, 2011
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L et al.
Jama, 2009
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Brems H et al.
Nature Genetics, 2007
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