Evidence map›Paper›PMID 29304375›Full record

ArticleAmerican journal of human genetics2018

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Mohammad K Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Colin and 34 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

44 authors.

Davor Lessel
Claudia Schob
Sébastien Küry
Margot R F Reijnders
Tamar Harel
Mohammad K Eldomery
Zeynep Coban-Akdemir
Jonas Denecke
Shimon Edvardson
Estelle Colin
Alexander P A Stegmann
Erica H Gerkes
Marine Tessarech
Dominique Bonneau
Magalie Barth
Thomas Besnard
Benjamin Cogné
Anya Revah-Politi
Tim M Strom
Jill A Rosenfeld
Yaping Yang
Jennifer E Posey
LaDonna Immken
Nelly Oundjian
Katherine L Helbig
Naomi Meeks
Kelsey Zegar
Jenny Morton
The Ddd Study
Jolanda H Schieving
Ana Claasen
Matthew Huentelman
Vinodh Narayanan
Keri Ramsey
C4RCD Research Group
Han G Brunner
Orly Elpeleg
Sandra Mercier
Stéphane Bézieau
Christian Kubisch
Tjitske Kleefstra
Stefan Kindler
James R Lupski
Hans-Jürgen Kreienkamp

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831k
NHGRI NIH HHS K08 HG008986NHGRI NIH HHS U54 HG003273
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID29304375
PMCPMC5777981

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.