Associated Papers
Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
Gao Q et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Gupta S et al.
Frontiers in Genetics, 2025
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
Pleckstrin Homology [PH] domain, structure, mechanism, and contribution to human disease.
Powis G et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F et al.
Frontiers in Genetics, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways.
Sigamani V et al.
Current Genomics, 2021
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2020
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G et al.
Molecular Genetics & Genomic Medicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh AL et al.
Molecular Genetics & Genomic Medicine, 2019
Oncogenic Signaling Pathways in The Cancer Genome Atlas.
Sanchez-Vega F et al.
Cell, 2018
RASopathy Gene Mutations in Melanoma.
Halaban R et al.
The Journal of Investigative Dermatology, 2016
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.
Zhao B et al.
Plos Genetics, 2016
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Krauthammer M et al.
Nature Genetics, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Behavioral profile in RASopathies.
Alfieri P et al.
American Journal of Medical Genetics. Part A, 2014
Health and quality of life in adults with Noonan syndrome.
Binder G et al.
The Journal of Pediatrics, 2012
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F et al.
Human Mutation, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Pierpont EI et al.
American Journal of Medical Genetics. Part A, 2010
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y et al.
Journal of Human Genetics, 2008
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M et al.
Journal of Medical Genetics, 2007
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE et al.
Nature Genetics, 2007