Associated Papers
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › ClinVar_annotated
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
39091798 (PubMed )
Supplement: media-6.xlsx › ClinVar_annotated
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR et al.
Bmc Medical Genetics, 2014
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2012
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
Ekvall S et al.
American Journal of Medical Genetics. Part A, 2011
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
Brasil AS et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y et al.
Journal of Human Genetics, 2008
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.
Zenker M et al.
European Journal of Medical Genetics, 0
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