Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR et al.
American Journal of Medical Genetics. Part A, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape.
Ratnasinghe BD et al.
Biorxiv : the Preprint Server for Biology, 2023
Paired Comparison of Routine Molecular Screening of Patient Samples with Advanced Non-Small Cell Lung Cancer in Circulating Cell-Free DNA Using Three Targeted Assays.
Barthelemy D et al.
Cancers, 2023
Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape.
Ratnasinghe BD et al.
Computational and Structural Biotechnology Journal, 2023
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
Craniosynostosis is a feature of Costello syndrome.
Weaver KN et al.
American Journal of Medical Genetics. Part A, 2022
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Tripathi S et al.
Bioinformatics (oxford, England), 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.
Nagata Y et al.
Nature Communications, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.
Hernández-Porras I et al.
The Journal of Pathology, 2016
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.
Merlevede J et al.
Nature Communications, 2016
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
Addissie YA et al.
American Journal of Medical Genetics. Part A, 2015
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis.
Brasil AS et al.
American Journal of Medical Genetics. Part A, 2012