Evidence map›Paper›PMID 30643220›Full record

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

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Sirinart Molidperee, Gary G Chen, Mary Kay Koenig, Rhamat B Adejumo, Marianne Till, Michael Harbord, Renee Perrier and 15 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. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

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

Corrections and comments

5 · Who and what money

Authors and funding

25 authors.

Bettina E MuchaDivision of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.
Siddharth BankaDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK.
Norbert Fonya AjeawungCentre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.
Sirinart MolidpereeCentre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.
Gary G ChenDepartment of Psychiatry, McGill University, Montreal, QC, Canada.
Mary Kay KoenigDepartment of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.
Rhamat B AdejumoDepartment of Pediatrics, Division of Child & Adolescent Neurology, The University of Texas McGovern Medical School, Houston, TX, USA.
Marianne TillService de Génétique CHU de Lyon-GH Est, Lyon, France.
Michael HarbordDepartment of Pediatrics, Flinders Medical Centre, Bedford Park, SA, Australia.
Renee PerrierDepartment of Medical Genetics, University of Calgary, Calgary, AB, Canada.
Emmanuelle LemyreDepartment of Pediatrics, Université de Montréal, Montreal, QC, Canada.
Renee-Myriam BoucherDepartment of Pediatrics, CHU Laval, Quebec City, QC, Canada.
Brian G SkotkoDivision of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
Jessica L WaxlerDivision of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
Mary Ann ThomasDepartment of Medical Genetics, University of Calgary, Calgary, AB, Canada.
Jennelle C HodgeDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Jozef GeczAdelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia.
Jillian NichollSouth Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.
Lesley McGregorSouth Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.
Tobias LindenKlinik für Neuropädiatrie und Stoffwechselerkrankungen, Zentrum für Kinder- und Jugendmedizin, Oldenburg, Germany.
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom.
Damien SanlavilleService de Génétique CHU de Lyon-GH Est, Lyon, France.
Sau W CheungDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Carl ErnstDepartment of Psychiatry, McGill University, Montreal, QC, Canada.
Philippe M CampeauDepartment of Pediatrics, Université de Montréal, Montreal, QC, Canada. p.campeau@umontreal.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The original version of this Article contained an error in the spelling of the author Siddharth Banka, which was incorrectly given as Siddhart Banka. This has now been corrected in both the PDF and HTML versions of the Article.

Identifiers

PMID30643220

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.