Evidence map›Paper›PMID 29560417›Full record

ArticleNeurology. Genetics2018

Whole-exome sequencing identifies mutations in

Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026
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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

6 authors at 1 institution in 1 country.

Hadil AlrohaifMRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Ana TöpfMRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Teresinha EvangelistaMRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Monkol LekMRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Daniel McArthurMRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Hanns LochmüllerMRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Massachusetts General Hospital · US

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID29560417
PMCPMC5858950
OpenAlexW2793613885

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.