Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 2022
SOS2 Comes to the Fore: Differential Functionalities in Physiology and Pathology.
Baltanás FC et al.
International Journal of Molecular Sciences, 2021
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Lissewski C et al.
European Journal of Human Genetics : Ejhg, 2021
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E et al.
Clinical Genetics, 2020
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema.
Ding Y et al.
Chinese Medical Journal, 2019
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cordeddu V et al.
Human Mutation, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL et al.
Journal of Medical Genetics, 2015
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