Evidence map›Paper›PMID 31263281›Full record

ArticleNature medicine2019

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Dong Li, Michael E March, Alvaro Gutierrez-Uzquiza, Charlly Kao, Christoph Seiler, Erin Pinto, Leticia S Matsuoka, Mark R Battig, Elizabeth J Bhoj, Tara L Wenger and 17 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers.

0numbers the graph read from it
0cells of the map it votes in
114citing papers in PubMed
11.6field-weighted citation impact, top 1% of its field
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

114 citing papers in PubMed, 216 citations in OpenAlex.

  1. Trial
  2. Review
  3. Review
  4. Lymphatic Imaging and Interventions in Children: Current Practice.Cardiovascular and interventional radiology · 2026
    Review
  5. Article
  6. SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly.American journal of medical genetics. Part A · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
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  19. Review
  20. DDX24 spatiotemporally orchestrates VEGF and Wnt signaling during developmental angiogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article

54 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors at 6 institutions in 2 countries.

Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Michael E MarchCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Alvaro Gutierrez-UzquizaCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Charlly KaoCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Christoph SeilerZebrafish Core Facility, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA.
Erin PintoCenter for Lymphatic Imaging and Interventions, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Leticia S MatsuokaCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Mark R BattigCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elizabeth J BhojCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Tara L WengerDivision of Craniofacial Medicine, Seattle Children's Hospital, Seattle, WA, USA.
Lifeng TianCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nora RobinsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Tiancheng WangCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Yichuan LiuCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Brant M WeinsteinDivision of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Matthew SwiftDepartment of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington DC, USA.
Hyun Min JungDivision of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Courtney N KaminskiCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Rosetta ChiavacciCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jonathan A PerkinsDivision of Otolaryngology-Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, USA.
Michael A LevineDivision of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Patrick M A SleimanCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Patricia J HicksDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Janet T StrausbaughDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jean B BelascoDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Yoav DoriCenter for Lymphatic Imaging and Interventions, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@email.chop.edu.ORCID http://orcid.org/0000-0003-2814-7461
Children's Hospital of Philadelphia · USNational Institutes of Health · USSeattle Children's Hospital · USUniversity of Pennsylvania · USGeorgetown University · USUniversidad Complutense de Madrid · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown etiologies, depends on the patient manifestations

Indexed as

MutationAdultAnimalsChildExome SequencingFemaleHEK293 CellsHumansLymphatic AbnormalitiesMaleMitogen-Activated Protein Kinase KinasesProto-Oncogene Proteins A-rafPyridonesPyrimidinonesZebrafishMitogen-Activated Protein Kinase KinasesProto-Oncogene Proteins A-rafPyridonesPyrimidinonestrametinib

Identifiers

PMID31263281
OpenAlexW2954866543

What OpenQuestion 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 OpenQuestion graph.