Evidence map›Paper›PMID 41834696›Full record

ArticleAmerican journal of medical genetics. Part A2026

The 9th International RASopathies Symposium.

Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M Brachmann, Emma Burkitt-Wright and 32 more

Abstract readConference Proceedings
In one paragraph

Article in American journal of medical genetics. Part A, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors.

Pau CastelDepartment of Biochemistry & Molecular Pharmacology, NYU Grossman School of Medicine, New York, New York, USA.ORCID https://orcid.org/0000-0002-4972-4347
Lisa SchoyerRASopathies Network, Pasadena, California, USA.
Beth StronachRASopathies Network, Pittsburgh, Pennsylvania, USA.
Raya BogdanovaDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA.
Anton M BennettDepartment of Pharmacology and Department of Comparative Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
Jaishri BlakeleyDepartment of Neurology, Oncology and Neurosurgery, Johns Hopkins School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Miriam BornhorstNorthwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0002-7595-7726
Tammy BowersNoonan Syndrome Foundation, Lake Stevens, Washington, USA.
Saskia M BrachmannNovartis BioMedical Research, Basel, Switzerland.
Emma Burkitt-WrightManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, and Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID https://orcid.org/0000-0002-2987-8103
Kathryn ChatfieldDepartment of Pediatrics and Division of Cardiology, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Alessandro De LucaMedical Genetics Laboratory, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Khalil El-ChammasDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Abdul ElkadriDivision of Pediatric Gastroenterology, Department of Pediatric Gastroenterology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
John E FortunatoDepartment of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0002-3052-2913
Bruce D GelbMindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID https://orcid.org/0000-0001-8527-5027
Anne GorielyMRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, NIHR Oxford Biomedical Research Centre, Oxford, UK.ORCID https://orcid.org/0000-0001-9229-7216
Karen GrippDivision of Medical Genetics, Nemours Children's Hospital, Wilmington, Delaware, USA.
Kassidy GroverDivision of Experimental Hematology and Cancer Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Lindsay HomanNoonan Syndrome Foundation, Sydney, Ohio, USA.
Kenneth A KernSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, California, USA.
Maija KiuruDepartment of Dermatology and Department of Pathology and Laboratory Medicine, University of California Davis, Sacramento, California, USA.
Charles Chuck LawsonParent Advocate, Denver, Colorado, USA.
Yong-Seok LeeDepartment of Physiology, Biomedical Sciences Seoul National University College of Medicine, Seoul National University, Seoul, South Korea.
Frank McCormickHelen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.
Gina NeyClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, USA.ORCID https://orcid.org/0000-0002-6530-780X
Cristina Nuevo-TapiolesPerlmutter Cancer Center, NYU Grossman School of Medicine, New York, New York, USA.
Sara PardejDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, California, USA.ORCID https://orcid.org/0000-0003-0299-3651
Elizabeth I PierpontDepartment of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.ORCID https://orcid.org/0000-0001-7555-8613
Julia PlankDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA.
Nancy RatnerDivision of Experimental Hematology and Cancer Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Katherine A RauenDivision of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA.
J Elliott RobinsonDivision of Experimental Hematology and Cancer Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Les RogersCFC International, Roseburg, Oregon, USA.
Sarah E SheppardUnit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0003-3480-8123
Keir ShielsGeneral Paediatrics, Great Ormond Street Hospital, London, UK.
David StevensonDivision of Medical Genetics, Department of Pediatrics, Stanford University Center of Academic Medicine, Stanford, California, USA.
Dagmar TiemensDepartment of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, the Netherlands.
Matthew TraylorThink Bioscience, Boulder, Colorado, USA.
K Nicole WeaverThe Heart Institute and Division of Human Genetics, Cincinnati Children's Hospital Medical Center; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Marielle YoheLaboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, Maryland, USA.
Tamar GreenDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA.ORCID https://orcid.org/0000-0001-5661-8297

Funding

TRAINING FOR CHILD PSYCHIATRY AND CHILD DEVELOPMENTT32MH019908 · NIMH · STANFORD UNIVERSITY · PI IAN H GOTLIB, DAVID S HONG · 1993 to 2026
$6.3M
Midbrain pathways for visual hypersensitivity in neurofibromatosis type 1R01NS126108 · NINDS · CINCINNATI CHILDRENS HOSP MED CTR · PI John Elliott Robinson · 2023 to 2026
$1.5M
9th International RASopathies SymposiumR13TR005697 · NCATS · RASOPATHIES NETWORK USA · PI SCHOYER, LISA · 2025 to 2025
$18k
Children's Tumor FoundationIntramural Research ProgramNCATS NIH HHS 1R13TR005697-01NCATS NIH HHS R13 TR005697NIAMS NIH HHSNIMH NIH HHS T32 MH019908NINDS NIH HHS R01 NS126108U.S. Department of Health and Human Services
6 · The paper itself

Abstract

The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. Given the heterogeneous clinical presentations of these disorders that involve abnormalities across multiple organ systems, multidisciplinary clinical management and progress in scientific research are essential for optimal patient diagnosis and care. The 9th International RASopathies Symposium, a biennial meeting, was organized by the patient advocacy group RASopathies Network and showcased recent discoveries, case studies, and advances in preclinical research. Participants, who included scientists, clinicians, industry representatives, patients, and family advocates, explored knowledge gaps, innovative clinical approaches, and lived experiences of individuals with a RASopathy. Sessions centered around organ systems were introduced with a patient perspective to highlight the burden of disease, continued with presentations from established and early-career investigators. Overall, the RASopathies Symposia serve as a catalyst for sustained community collaboration focused on enhancing patient health and accelerating the translation of discoveries into effective treatments.

Indexed as

ras ProteinsAnimalsHumansMAP Kinase Signaling Systemras Proteins

Identifiers

PMID41834696
PMCPMC13596094

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.