Associated Papers
Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.
Suzuki D et al.
Molecular Genetics & Genomic Medicine, 2025
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Structural basis for LZTR1 recognition of RAS GTPases for degradation.
Dharmaiah S et al.
Science (new York, N.y.), 2025
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
Guo R et al.
Scientific Reports, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 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
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Wolf CM et al.
Jacc. Basic to Translational Science, 2025
Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.
De Brouchoven I et al.
Frontiers in Pediatrics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.
Abe T et al.
Jci Insight, 2024
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
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S et al.
European Journal of Human Genetics : Ejhg, 2024
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.
Gazzin A et al.
Life (basel, Switzerland), 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease.
Cherra SJ et al.
Frontiers in Molecular Neuroscience, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events.
Boleti OD et al.
International Journal of Cardiology, 2023
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS et al.
Cardiovascular Drugs and Therapy, 2023
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y et al.
Circulation. Genomic and Precision Medicine, 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
RAS-dependent RAF-MAPK hyperactivation by pathogenic RIT1 is a therapeutic target in Noonan syndrome-associated cardiac hypertrophy.
Cuevas-Navarro A et al.
Science Advances, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.
Chumakova OS et al.
Frontiers in Cardiovascular Medicine, 2023
New prospectives on treatment opportunities in RASopathies.
Gelb BD et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW et al.
American Journal of Medical Genetics. Part A, 2022
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.
Leegaard A et al.
European Journal of Medical Genetics, 2022
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN et al.
Circulation. Genomic and Precision Medicine, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal DS et al.
Journal of Cardiovascular Development and Disease, 2022
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Chen S et al.
Genome Research, 2022
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 2022
Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.
Zha P et al.
Frontiers in Pediatrics, 2022
How genomics is changing the practice of prenatal testing.
Filges I et al.
Journal of Perinatal Medicine, 2021
The RAS GTPase RIT1 compromises mitotic fidelity through spindle assembly checkpoint suppression.
Cuevas-Navarro A et al.
Current Biology : Cb, 2021
Structural Model for Recruitment of RIT1 to the LZTR1 E3 Ligase: Evidences from an Integrated Computational Approach.
Paladino A et al.
Journal of Chemical Information and Modeling, 2021
Etiology and Treatment of Growth Delay in Noonan Syndrome.
Rodríguez F et al.
Frontiers in Endocrinology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020