Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Corso BM et al.
Molecular Syndromology, 2026
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.
Kendir-Demirkol Y et al.
Molecular Syndromology, 2025
Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.
Terashima Y et al.
Cancer Science, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.
Bess J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature.
Tian QJ et al.
World Journal of Gastroenterology, 2025
Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.
Kang M et al.
The Journal of Clinical Investigation, 2025
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.
Reynolds G et al.
International Journal of Molecular Sciences, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genomic Landscapes of Early-Onset Versus Average-Onset Colorectal Cancer Populations.
Storandt MH et al.
Cancers, 2025
Impaired MC3T3-E1 osteoblast differentiation triggered by oncogenic HRAS is rescued by the farnesyltransferase inhibitor Tipifarnib.
Andrasch Y et al.
Scientific Reports, 2025
Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations.
Moriya A et al.
Human Molecular Genetics, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Wolf CM et al.
Jacc. Basic to Translational Science, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
A compilation of 13 patients with metastatic colorectal cancer and concomitant BRAF and RAS family mutations.
Srivastav J et al.
Frontiers in Oncology, 2025
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.
Pascarella A et al.
Children (basel, Switzerland), 2024
A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.
Bess J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
RAS and SHOC2 Roles in RAF Activation and Therapeutic Considerations.
Bonsor DA et al.
Annual Review of Cancer Biology, 2024
Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor.
Fasano G et al.
Molecular Medicine (cambridge, Mass.), 2024
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR et al.
American Journal of Medical Genetics. Part A, 2024
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Musto E et al.
Epilepsia Open, 2024
The Clinical, Genomic, and Transcriptomic Landscape of BRAF Mutant Cancers.
Kazandjian S et al.
Cancers, 2024
Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.
Ou Y et al.
Frontiers in Pediatrics, 2024
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.
Tamburrino F et al.
Frontiers in Endocrinology, 2024
Unveiling the domain-specific and RAS isoform-specific details of BRAF kinase regulation.
Trebino TE et al.
Elife, 2023
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Crincoli E et al.
American Journal of Medical Genetics. Part A, 2023
Unique Spectrum of Activating BRAF Alterations in Prostate Cancer.
Chehrazi-Raffle A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Unveiling the Domain-Specific and RAS Isoform-Specific Details of BRAF Regulation.
Trebino T et al.
Biorxiv : the Preprint Server for Biology, 2023
Protocol for measuring BRAF autoinhibition in live cells using a proximity-based NanoBRET assay.
Spencer-Smith R et al.
Star Protocols, 2023
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng B et al.
Orphanet Journal of Rare Diseases, 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
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
RAS pathway: The new frontier of brain mosaicism in epilepsy.
Sran S et al.
Neurobiology of Disease, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 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
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G et al.
Frontiers in Endocrinology, 2023
Case report: Noonan syndrome with protein-losing enteropathy.
Ou Y et al.
Frontiers in Genetics, 2023
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.
Cheng WY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.
Shiohama T et al.
American Journal of Medical Genetics. Part A, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Kenney-Jung DL et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
RASopathy mutations open new insights into the mechanism of BRAF activation.
Dar AC et al.
Molecular Cell, 2022