ArticleAmerican journal of medical genetics. Part A2020
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.Clinical genetics · 2026Article
- Impact of RASopathy subtype on the early disease course of RASopathy-associated hypertrophic cardiomyopathy: clinical outcomes and genetic insights.Pediatric research · 2026Article
- Review
- The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.Orphanet journal of rare diseases · 2023Article
- RAS pathway: The new frontier of brain mosaicism in epilepsy.Neurobiology of disease · 2023Review
- From Stem to Sternum: The Role of Shp2 in the Skeleton.Calcified tissue international · 2023Review
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.Frontiers in endocrinology · 2023Review
- Precision diagnostics in children.Cambridge prisms. Precision medicine · 2023Review
- GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.Molecular therapy. Methods & clinical development · 2022Review
- Review
- Defining RASopathy.Disease models & mechanisms · 2022Article
- How can same-gene mutations promote both cancer and developmental disorders?Science advances · 2022Article
- The blended phenotype of a germlineCold Spring Harbor molecular case studies · 2021Article
- Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review.Orphanet journal of rare diseases · 2021Article
- Zebrafish disease models in drug discovery: from preclinical modelling to clinical trials.Nature reviews. Drug discovery · 2021Review
- When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib.Current oncology reports · 2021Review
- Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care.Frontiers in pediatrics · 2021Review
- PCells · 2020Article
- The utility of exome sequencing for fetal pleural effusions.Prenatal diagnosis · 2020Article
Corrections and comments
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Authors and funding
46 authors at 20 institutions in 10 countries.
Funding
Abstract
The RASopathies are a group of genetic disorders that result from germline pathogenic variants affecting RAS-mitogen activated protein kinase (MAPK) pathway genes. RASopathies share RAS/MAPK pathway dysregulation and share phenotypic manifestations affecting numerous organ systems, causing lifelong and at times life-limiting medical complications. RASopathies may benefit from precision medicine approaches. For this reason, the Sixth International RASopathies Symposium focused on exploring precision medicine. This meeting brought together basic science researchers, clinicians, clinician scientists, patient advocates, and representatives from pharmaceutical companies and the National Institutes of Health. Novel RASopathy genes, variants, and animal models were discussed in the context of medication trials and drug development. Attempts to define and measure meaningful endpoints for treatment trials were discussed, as was drug availability to patients after trial completion.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.