Evidence map›Paper›PMID 27268758›Full record

ArticlePediatric neurology2016

Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.

Anne M Comi, Mustafa Sahin, Adrienne Hammill, Emma H Kaplan, Csaba Juhász, Paula North, Karen L Ball, Alex V Levin, Bernard Cohen, Jill Morris and 3 more

Open access · bronzeAbstract readConsensus Development Conference, NIH
In one paragraph

Article in Pediatric neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.1field-weighted citation impact, top 9% 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

9 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2021
    Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Ocular Manifestations of the Sturge-Weber Syndrome.Journal of ophthalmic & vision research
    Review
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

13 authors at 10 institutions in 1 country.

Anne M ComiDepartment of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: comi@kennedykrieger.org.
Mustafa SahinDepartment of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Adrienne HammillCancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio.
Emma H KaplanDepartment of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
Csaba JuhászDepartment of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan; Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan.
Paula NorthDepartment of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Karen L BallThe Sturge-Weber Foundation, Randolph, New Jersey.
Alex V LevinDepartment of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College, Thomas University, Philadelphia, Pennsylvania; Department of Pediatrics, Wills Eye Hospital, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.
Bernard CohenDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Jill MorrisNational Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Warren LoDepartments of Pediatrics and Neurology, The Ohio State University College of Medicine and Nationwide Children's Hospital, Columbus, Ohio.
E Steve RoachDepartments of Pediatrics and Neurology, The Ohio State University College of Medicine and Nationwide Children's Hospital, Columbus, Ohio.
2015 Sturge-Weber Syndrome Research Workshop
Kennedy Krieger Institute · USNationwide Children's Hospital · USMedical College of Wisconsin · USBoston Children's Hospital · USCincinnati Children's Hospital Medical Center · USJohns Hopkins University · USNational Institutes of Health · USSturge Weber Foundation · USThomas Jefferson University · USWayne State University · US

Funding

LCenter for Clinical and Translational Science and TrainingUL1TR001425 · NCATS · UNIVERSITY OF CINCINNATI · PI MEINZEN-DERR, JAREEN, STRAWN, JEFFREY ROBERT · 2015 to 2024
$37.5M
VCRC Administration UnitU54NS065705 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FAUGHNAN, MARIE E · 2009 to 2023
$20.8M
Longitudinal Neuroimaging in Sturge-Weber SyndromeR01NS041922 · NINDS · WAYNE STATE UNIVERSITY · PI JUHASZ, CSABA · 2003 to 2024
$6.2M
Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2M
Functional Characterization of the GNAQ somatic mutation causing Sturge Weber syndromeR21NS091589 · NINDS · DUKE UNIVERSITY · PI MARCHUK, DOUGLAS A. · 2015 to 2016
$437k
Sturge-Weber syndrome: Leveraging a Gene Discovery for the FutureR13NS090861 · NINDS · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI COMI, ANNE M · 2014 to 2015
$36k
NCATS NIH HHS UL1 TR001425NICHD NIH HHS U54 HD090255NINDS NIH HHS R01 NS041922NINDS NIH HHS R13 NS090861NINDS NIH HHS R21 NS091589NINDS NIH HHS U54 NS065705
6 · The paper itself

Abstract

Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder. This paper summarizes a 2015 SWS workshop in Bethesda, Maryland that was sponsored by the National Institutes of Health. Meeting attendees included a diverse group of clinical and translational researchers with a goal of establishing research priorities for the next few years. The initial portion of the meeting included a thorough review of the recent genetic discovery and what is known of the pathogenesis of SWS. Breakout sessions related to neurology, dermatology, and ophthalmology aimed to establish SWS research priorities in each field. Key priorities for future development include the need for clinical consensus guidelines, further work to develop a clinical trial network, improvement of tissue banking for research purposes, and the need for multiple animal and cell culture models of SWS.

Indexed as

AnimalsClinical Trials as TopicGenetic Association StudiesHumansSturge-Weber SyndromeglaucomaGNAQport-wine birthmarkseizuressomatic mutationSturge-Weber syndrome

Identifiers

PMID27268758
PMCPMC5509161
OpenAlexW2300814364

What OpenQuestion holds

Textmetadata
LicenceTDM
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.