Associated Papers
Atrial Septal Defect Surgical Closure Following Trametinib Utilization in Noonan Syndrome-Associated Hypertrophic Cardiomyopathy.
Hebson C et al.
Jacc. Case Reports, 2026
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Gulrajani NB et al.
Prenatal Diagnosis, 2025
Mutant RIT1 cooperates with YAP to drive an EMT-like lung cancer state.
Rominger MC et al.
Cell Reports, 2025
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Blood, 2025
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant.
Tanaka Y et al.
European Journal of Medical Genetics, 2025
Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review.
Kobayashi Y et al.
Human Genome Variation, 2025
RVOT Stenting and Trametinib in an Infant With Noonan Syndrome, Pulmonary Stenosis, and Hypertrophic Cardiomyopathy.
Millette TJ et al.
Jacc. Case Reports, 2025
A microglia clonal inflammatory disorder in Alzheimer's disease.
Vicario R et al.
Elife, 2025
Oncogenic RIT1 mutations confer ferroptosis vulnerability in lung adenocarcinoma.
Ma R et al.
Biology Direct, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Wolf CM et al.
Jacc. Basic to Translational Science, 2025
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome.
Zheng J et al.
Scientific Reports, 2024
Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.
Kapp FG et al.
Angiogenesis, 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
A microglia clonal inflammatory disorder in Alzheimer's Disease.
Vicario R et al.
Biorxiv : the Preprint Server for Biology, 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
Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome.
Leenders EKSM et al.
Clinical Case Reports, 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
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy.
Captur G et al.
Circulation. Genomic and Precision Medicine, 2024
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Boleti O et al.
Esc Heart Failure, 2024
A new genomic framework to categorize pediatric acute myeloid leukemia.
Umeda M et al.
Nature Genetics, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS et al.
Cardiovascular Drugs and Therapy, 2023
UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis.
Barajas JM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic 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
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Oncogenic KRAS alters splicing factor phosphorylation and alternative splicing in lung cancer.
Lo A et al.
Bmc Cancer, 2022
A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.
Tano S et al.
Molecular Genetics and Metabolism Reports, 2022
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome.
Nakano TA et al.
The Journal of Pediatrics, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A et al.
Prenatal Diagnosis, 2022
Correction to: Oncogenic RIT1 mutations in lung adenocarcinoma.
Berger AH et al.
Oncogene, 2022
Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.
Qiu Z et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.
Yin XQ et al.
Frontiers in Oncology, 2022
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
Stagi S et al.
Frontiers in Endocrinology, 2022
Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.
Zha P et al.
Frontiers in Pediatrics, 2022
Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition.
Gordon K et al.
Frontiers in Genetics, 2022
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N et al.
The Application of Clinical Genetics, 2022
Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.
Fornerod M et al.
Blood Cancer Discovery, 2021