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 pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Yılmaz Uzman C et al.
European Journal of Pediatrics, 2024
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Ramzan M et al.
Journal of Human Genetics, 2023
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2022
Epigenetic and Posttranscriptional Modulation of SOS1 Can Promote Breast Cancer Metastasis through Obesity-Activated c-Met Signaling in African-American Women.
Xing F et al.
Cancer Research, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report.
Rodríguez FA et al.
Birth Defects Research, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A et al.
American Journal of Medical Genetics. Part A, 2019
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad A et al.
Bmc Medical Genetics, 2018
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
van Trier DC et al.
American Journal of Medical Genetics. Part A, 2017
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.
Moncini S et al.
European Journal of Human Genetics : Ejhg, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR et al.
Bmc Medical Genetics, 2014
NMR-based functional profiling of RASopathies and oncogenic RAS mutations.
Smith MJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.
Ferrero GB et al.
Human Mutation, 2012
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F et al.
Human Mutation, 2011