Associated Papers
Comprehensive next generation sequencing of middle ear neuroendocrine tumors.
Bishop JA et al.
Annals of Diagnostic Pathology, 2026
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.
Rautiainen N et al.
American Journal of Medical Genetics. Part A, 2026
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
Re-envisioning genetic predisposition to childhood and adolescent cancers.
Kratz CP
Nature Reviews. Cancer, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Wilcox EH et al.
Genetics in Medicine Open, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Frey T et al.
American Journal of Medical Genetics. Part A, 2023
In Silico Analysis of nsSNPs of Human KRAS Gene and Protein Modeling Using Bioinformatic Tools.
Xu D et al.
Acs Omega, 2023
Predicting the effects of rare genetic variants on oncogenic signaling pathways: A computational analysis of HRAS protein function.
Ali S et al.
Frontiers in Chemistry, 2023
Predicting Deleterious Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) of HRAS Gene and In Silico Evaluation of Their Structural and Functional Consequences towards Diagnosis and Prognosis of Cancer.
Chai CY et al.
Biology, 2022
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Lindsey-Temple S et al.
European Journal of Human Genetics : Ejhg, 2022
HRAS Q61L Mutation as a Possible Target for Non-Small Cell Lung Cancer: Case Series and Review of Literature.
Mathiot L et al.
Current Oncology (toronto, Ont.), 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
Leoni C et al.
Journal of Multidisciplinary Healthcare, 2022
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.
Zhang J et al.
Frontiers in Oncology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Vuralli D et al.
Molecular Syndromology, 2020
Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer.
Brunetti M et al.
Oncology Letters, 2020
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Langerhans Cell Histiocytoma: A Benign Histiocytic Neoplasm of Diverse Lines of Terminal Differentiation.
Dupeux M et al.
The American Journal of Dermatopathology, 2019
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.
Young LC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
Gripp KW et al.
Clinical Genetics, 2017
Comparison of plasma to tissue DNA mutations in surgical patients with non-small cell lung cancer.
Chen K et al.
The Journal of Thoracic and Cardiovascular Surgery, 2017
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Bertola D et al.
American Journal of Medical Genetics. Part A, 2017
Respiratory system involvement in Costello syndrome.
Gomez-Ospina N et al.
American Journal of Medical Genetics. Part A, 2016
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
Hiippala A et al.
American Journal of Medical Genetics. Part A, 2016
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.
Sana ME et al.
Plos One, 2016
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
McCormick EM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
Lorenz S et al.
Human Molecular Genetics, 2013
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
Lorenz S et al.
European Journal of Medical Genetics, 2012
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2012
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2012
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
Gripp KW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Niihori T et al.
Journal of Human Genetics, 2011
Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review.
Axelrad ME et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
Lin AE et al.
American Journal of Medical Genetics. Part A, 2011
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2010
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Gremer L et al.
Human Molecular Genetics, 2010
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Rauen KA et al.
American Journal of Medical Genetics. Part A, 2010
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.
Axelrad ME et al.
American Journal of Medical Genetics. Part A, 2009