Evidence map›Paper›PMID 31267042›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Mathilde Nizon, Vincent Laugel, Kevin M Flanigan, Matthew Pastore, Megan A Waldrop, Jill A Rosenfeld, Ronit Marom, Rui Xiao, Amanda Gerard, Olivier Pichon and 12 more

Abstract readPublished Erratum
PubMed Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. 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

5 · Who and what money

Authors and funding

22 authors.

Mathilde NizonCHU Nantes, Service de Génétique Médicale, Nantes, France. bertrand.isidor@chu-nantes.fr.ORCID http://orcid.org/0000-0003-2170-4210
Vincent LaugelLaboratoire de génétique médicale, INSERM UMR 1112, Faculté de Médecine, 11 rue Humann, 67000, Strasbourg, France.
Kevin M FlaniganNeurology Department, Nationwide Children's Hospital, Columbus, OH, USA.
Matthew PastoreNeurology Department, Nationwide Children's Hospital, Columbus, OH, USA.
Megan A WaldropNeurology Department, Nationwide Children's Hospital, Columbus, OH, USA.
Jill A RosenfeldBaylor College of Medicine, Houston, TX, USA.
Ronit MaromBaylor College of Medicine, Houston, TX, USA.
Rui XiaoBaylor College of Medicine, Houston, TX, USA.
Amanda GerardBaylor College of Medicine, Houston, TX, USA.
Olivier PichonCHU Nantes, Service de Génétique Médicale, Nantes, France.
Cédric Le CaignecCHU Nantes, Service de Génétique Médicale, Nantes, France.
Marion GérardService de Génétique Clinique, CHU Caen, Caen, France.
Klaus DieterichService de Génétique Clinique, CHU Grenoble, Grenoble, France.
Megan Truitt ChoClinical Genomics GeneDx, Gaithersburg, MD, USA.
Kirsty McWalterClinical Genomics GeneDx, Gaithersburg, MD, USA.ORCID http://orcid.org/0000-0002-1654-9036
Susan HiattHudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.ORCID http://orcid.org/0000-0001-5214-6747
Michelle L ThompsonHudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
Stéphane BézieauCHU Nantes, Service de Génétique Médicale, Nantes, France.
Alexandrea WadleyUniversity of Oklahoma School of Medicine, Oklahoma City, OK, USA.
Klaas J WierengaMayo Clinic Florida, Jacksonville, FL, 32224, USA.
Jean-Marc EglyInstitut de génétique et de biologie moléculaire cellulaire IGBMC, Faculté de Médecine, Strasbourg, France.
Bertrand IsidorCHU Nantes, Service de Génétique Médicale, Nantes, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the Acknowledgements section of the paper the authors neglected to mention that the study was supported by a grant from the National Human Genome Research Institute (NHGRI) UM1HG007301 (S.H., M.L.T.). In addition, the award of MD was associated with the authors Michelle L. Thompson and Susan Hiatt instead of PhD. The PDF and HTML versions of the Article have been modified accordingly.

Identifiers

PMID31267042

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.