Associated Papers
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Chelleri C et al.
American Journal of Medical Genetics. Part A, 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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
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.
Evans DG et al.
Ebiomedicine, 2016
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H et al.
The Keio Journal of Medicine, 2013
Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S et al.
Clinical Genetics, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L et al.
Jama, 2009
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E et al.
Journal of Medical Genetics, 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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