Associated Papers
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.
Gazzin A et al.
European Journal of Human Genetics : Ejhg, 2026
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.
Tamburrino F et al.
Frontiers in Endocrinology, 2024
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL et al.
American Journal of Medical Genetics. Part A, 2018
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.
Tamburrino F et al.
American Journal of Medical Genetics. Part A, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
Wu X et al.
Molecular and Cellular Biology, 2012
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
Cheng TM et al.
Plos Computational Biology, 2012
23093928 (PubMed )
Supplement: pcbi.1002738.s011.doc
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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