Evidence map›Paper›PMID 32116545›Full record

ArticleFrontiers in molecular neuroscience2020

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Raman Kumar, Elizabeth Palmer, Alison E Gardner, Renee Carroll, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Ype Elgersma, Cynthia J Curry, Alice Gardham and 18 more

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

Article in Frontiers in molecular neuroscience, 2020. 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
0.8field-weighted citation impact, top 29% 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

10 citing papers in PubMed, 21 citations in OpenAlex.

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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

28 authors at 17 institutions in 5 countries.

Raman KumarAdelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
Elizabeth PalmerGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
Alison E GardnerAdelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
Renee CarrollAdelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
Siddharth BankaFaculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
Ola AbdelhadiManchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.
Dian DonnaiFaculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
Ype ElgersmaDepartment of Neuroscience, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Cynthia J CurryGenetic Medicine, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, United States.
Alice GardhamNorth West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Mohnish SuriNottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, and the 100,000 Genomes Project and the Genomics England Research Consortium, Nottingham, United Kingdom.
Rishikesh MallaDivision of Pediatric Neurology, Medical University of South Carolina, Charleston, SC, United States.
Lauren Ilana BradyDepartment of Pediatrics, McMaster University Medical Centre, Hamilton, ON, Canada.
Mark TarnopolskyDepartment of Pediatrics, McMaster University Medical Centre, Hamilton, ON, Canada.
Dimitar N AzmanovDepartment of Diagnostic Genomics, PathWest, Nedlands, WA, Australia.
Vanessa AtkinsonDepartment of Diagnostic Genomics, PathWest, Nedlands, WA, Australia.
Michael BlackDepartment of Diagnostic Genomics, PathWest, Nedlands, WA, Australia.
Gareth BaynamFaculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia.
Lauren DreyerGenetic Services of Western Australia, Undiagnosed Diseases Program, Department of Health, Government of Western Australia, Perth, WA, Australia.
Robin Z HayeemsChild Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Christian R MarshallGenome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Gregory CostainDepartment of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Marja W WesselsDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Julia BaptistaRoyal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
James DrummondNeuroradiology, Royal North Shore Hospital, Sydney, NSW, Australia.
Melanie LefflerGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
Michael FieldGenetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
Jozef GeczAdelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
University of Adelaide · AUHunter Genetics · AUPathwest Laboratory Medicine · AUErasmus MC · NLHospital for Sick Children · CAMcMaster University Medical Centre · CASt Mary's Hospital · GBGovernment of Western Australia · AUManchester University NHS Foundation Trust · GBMedical University of South Carolina · USNorthwick Park Hospital · GBNottingham University Hospitals NHS Trust · GBRoyal Devon & Exeter NHS Foundation Trust · GBRoyal North Shore Hospital · AUUniversity of California, San Francisco · USUniversity of Toronto · CAUniversity of Western Australia · AU

Funding

Wellcome Trust
6 · The paper itself

Abstract

Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective

Indexed as

intellectual disabilitymicrodeletionmRNA exportneurodevelopmental disordersTHOC2

Identifiers

PMID32116545
PMCPMC7026477
OpenAlexW3004984830

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.