Evidence map›Paper›PMID 27588455›Full record

ArticleAmerican journal of human genetics2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman and 23 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Review
  3. Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 GeneInternational journal of molecular sciences · 2022
    Article
  4. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2022
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

33 authors.

Elisabeth M Lodder
Pasquelena De Nittis
Charlotte D Koopman
Wojciech Wiszniewski
Carolina Fischinger Moura de Souza
Najim Lahrouchi
Nicolas Guex
Valerio Napolioni
Federico Tessadori
Leander Beekman
Eline A Nannenberg
Lamiae Boualla
Nico A Blom
Wim de Graaff
Maarten Kamermans
Dario Cocciadiferro
Natascia Malerba
Barbara Mandriani
Zeynep Hande Coban Akdemir
Richard J Fish
Mohammad K Eldomery
Ilham Ratbi
Arthur A M Wilde
Teun de Boer
William F Simonds
Marguerite Neerman-Arbez
V Reid Sutton
Fernando Kok
James R Lupski
Alexandre Reymond
Connie R Bezzina
Jeroen Bakkers
Giuseppe Merla

Funding

Mechanism of G Protein Beta5/ R7-RGS Protein/ R7BP Complex Signal TransductionZIADK043304 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI SIMONDS, WILLIAM F · 2009 to 2025
$14.8M
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID27588455
PMCPMC5011071

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.