Evidence map›Paper›PMID 32842615›Full record

ArticleJournal of clinical medicine2020

Genotype-Phenotype Correlations in Children with HHT.

Alexandra Kilian, Giuseppe A Latino, Andrew J White, Dewi Clark, Murali M Chakinala, Felix Ratjen, Jamie McDonald, Kevin Whitehead, James R Gossage, Doris Lin and 7 more

Open access · goldAbstract read
In one paragraph

Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.8field-weighted citation impact, top 14% 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

11 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Clinical Phenotypes of a Pediatric Cohort withJournal of clinical medicine · 2025
    Article
  5. Hereditary haemorrhagic telangiectasia.Nature reviews. Disease primers · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
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

17 authors at 10 institutions in 2 countries.

Alexandra KilianToronto HHT Centre, St. Michael's Hospital and Li Ka Shing Knowledge Institute, Toronto, ON M5B 1W8, Canada.
Giuseppe A LatinoToronto HHT Centre, St. Michael's Hospital and Li Ka Shing Knowledge Institute, Toronto, ON M5B 1W8, Canada.
Andrew J WhiteWashington University School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0001-9394-7823
Dewi ClarkToronto HHT Centre, St. Michael's Hospital and Li Ka Shing Knowledge Institute, Toronto, ON M5B 1W8, Canada.
Murali M ChakinalaWashington University School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0002-3782-341X
Felix RatjenDivision of Respiratory Medicine and Translational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.ORCID 0000-0003-4057-6592
Jamie McDonaldUniversity of Utah Health, Salt Lake City, UT 84132, USA.
Kevin WhiteheadUniversity of Utah Health, Salt Lake City, UT 84132, USA.ORCID 0000-0003-0419-7309
James R GossageAugusta University Health, Augusta, GA 30912, USA.
Doris LinDepartment of Radiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0002-6001-2383
Katharine HendersonDepartment of Radiology and Biomedical Imaging, and HHT Program, Yale University School of Medicine, New Haven, CT 06510, USA.
Jeffrey PollakDepartment of Radiology and Biomedical Imaging, and HHT Program, Yale University School of Medicine, New Haven, CT 06510, USA.
Justin P McWilliamsDepartment of Interventional Radiology, University of California Los Angeles, Los Angeles, CA 90095, USA.ORCID 0000-0001-8027-0112
Helen KimUSA Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California San Francisco, San Francisco, CA 94110, USA.
Michael T LawtonDepartment of Neurosurgery, Barrow Neurological Institute, Phoenix, AZ 85013, USA.
Marie E FaughnanToronto HHT Centre, St. Michael's Hospital and Li Ka Shing Knowledge Institute, Toronto, ON M5B 1W8, Canada.
the Brain Vascular Malformation Consortium HHT Investigator Group
St. Michael's Hospital · CAUniversity of Utah · USWashington University in St. Louis · USYale University · USAugusta University · USBarrow Neurological Institute · USHospital for Sick Children · CAJohns Hopkins University · USUniversity of California, Los Angeles · USUniversity of California, San Francisco · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso · 2019 to 2026
$51.2M
VCRC Administration UnitU54NS065705 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KIM, HELEN · 2009 to 2023
$20.8M
NCATS NIH HHS UL1 TR001863NINDS NIH HHS U54 NS065705NS/NINDS NIH HHS/United States U54NS065705TR/NCATS NIH HHS/United States U2CTR002818
6 · The paper itself

Abstract

Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (

Indexed as

ACVRL1arteriovenous malformationENGgenotype–phenotype correlationHereditary hemorrhagic telangiectasiapediatricsSMAD4

Identifiers

PMID32842615
PMCPMC7565052
OpenAlexW3080769866

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.