Evidence map›Paper›PMID 30279470›Full record

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

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh and 76 more

Open access · hybridAbstract readPublished Erratum
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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 88% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Differences in Expression ofInternational journal of molecular sciences · 2022
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

86 authors at 20 institutions in 9 countries.

Cyril MignotINSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. cyril.mignot@aphp.fr.
Aoife C McMahonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Claire BarAPHP, Reference Centre for Rare Epilepsies, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
Philippe M CampeauDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Claire DavidsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Julien BurattiAPHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares, GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
Caroline NavaINSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.
Marie-Line JacquemontCHU La Reunion-Groupe Hospitalier Sud Reunion, La Reunion, France.
Marilyn TallotCHU La Reunion-Groupe Hospitalier Sud Reunion, La Reunion, France.
Mathieu MilhAPHM, Hôpital d'Enfants de La Timone, Service de Neurologie Pediatrique, centre de reference deficiences intellectuelles de cause rare, Marseille, France.
Patrick EderyService de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France.
Pauline MarzinAPHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares, GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
Giulia BarciaINSERM U1163, Imagine Institute, Paris, France.
Christine BarneriasAPHP, Unite fonctionnelle de Neurologie, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
Claude BesmondINSERM U1163, Imagine Institute, Paris, France.
Thierry BienvenuAPHP, Laboratoire de Genetique et Biologie Moleculaires, Hôpital Cochin, HUPC, Paris, France.
Ange-Line BruelFHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France.
Ledia BrungaDivision of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Berten CeulemansDepartment of Pediatric Neurology, University Hospital and University of Antwerp, Antwerp, Belgium.
Christine CoubesDepartement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France.
Ana G CristanchoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Fiona CunninghamEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Marie-Bertille DehouckCentre de Genetique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France.
Elizabeth J DonnerDivision of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Bénédicte Duban-BeduCentre de Genetique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France.
Christèle DubourgCHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France.
Elena GardellaDanish Epilepsy Centre Filadelfia, Dianalund, Denmark.
Julie GauthierDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
David GenevièveDepartement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France.
Stéphanie Gobin-LimballeAPHP, Service de genetique medicale, Necker- Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
Ethan M GoldbergDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Eveline HagebeukStichting Epilepsie Instellingen Nederland, SEIN, Zwolle, The Netherlands.
Fadi F HamdanDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Miroslava HančárováDepartment of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Laurence HubertINSERM U1163, Imagine Institute, Paris, France.
Christine IoosAPHP, University Hospital of Paris ïle-de-France ouest, Raymond Poincare Hospital, Garches, France.
Shoji IchikawaDepartment of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
Sandra JanssensCentre for Medical Genetics Ghent, Ghent University Hospital, C. Heymanslaan 10, Ghent, Belgium.
Hubert JournelService de Genetique Medicale, Hôpital Chubert, Vannes, France.
Anna KaminskaAPHP, Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, Paris, France.
Boris KerenAPHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares, GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
Marije KoopmansDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Caroline LacosteDepartement de Genetique Medicale, APHM, Hopital d'Enfants de La Timone, Marseille, France.
Petra LaššuthováChild Neurology Department, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
Damien LedererCentre de Genetique Humaine, Institut de Pathologie et de Genetique, Gosselies, Belgium.
Daphné LehalleFHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France.
Dragan MarjanovicDanish Epilepsy Centre Filadelfia, Dianalund, Denmark.
Julia MétreauAPHP, Service de neurologie pediatrique, Hôpital Universitaire Bicetre, Le Kremlin-Bicetre, France.
Jacques L MichaudDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Kathryn MillerDepartment of Pediatrics, Albany Medical Center, Albany, NY, USA.
Berge A MinassianDivision of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Joannella MoralesEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Marie-Laure MoutardAPHP, Hôpital Trousseau, service de neuropediatrie, Paris, France.
Arnold MunnichINSERM U1163, Imagine Institute, Paris, France.
Xilma R Ortiz-GonzalezDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jean-Marc PinardDivision of Neuropediatrics, CHU Raymond Poincare (APHP), Garches, France.
Darina PrchalováDepartment of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Audrey PutouxService de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France.
Chloé QuelinService de Genetique Medicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Alyssa R RosenDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Joelle RoumeUnite de Genetique Medicale, Centre de Reference des Maladies rares du Developpement (AnD DI Rares), CHI Poissy-St Germain en Laye, Poissy, France.
Elsa RossignolDepartments of Pediatrics and Neurosciences, CHU Sainte-Justine and University of Montreal, Montreal, Canada.
Marleen E H SimonDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Thomas SmolInstitut de Genetique Medicale, CHRU Lille, Universite de Lille, Lille, France.
Natasha ShurDepartment of Pediatrics, Albany Medical Center, Albany, NY, USA.
Ivan ShelihanDivision of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Katalin ŠtěrbováChild Neurology Department, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
Emílie VyhnálkováDepartment of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Catheline VilainDepartment of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.
Julie SobletDepartment of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.
Guillaume SmitsDepartment of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.
Samuel P YangClinical Genomics & Predictive Medicine, Providence Medical Group, Dayton, WA, USA.
Jasper J van der SmagtDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Peter M van HasseltDepartment of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands.
Marjan van KempenDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Sarah WeckhuysenNeurogenetics Group, Center of Molecular Neurology, VIB, Antwerp, Belgium.
Ingo HelbigDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Laurent VillardAix Marseille University, INSERM, MMG, UMR-S 1251, Faculte de medecine, Marseille, France.
Delphine HéronAPHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares, GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France.
Bobby KoelemanDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Rikke S MøllerCHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France.
Gaetan LescaService de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France.
Katherine L HelbigDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Rima NabboutAPHP, Reference Centre for Rare Epilepsies, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.
Nienke E VerbeekDepartment of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Christel DepienneINSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. christel.depienne@uni-due.de.
Inserm · FRUniversity Medical Center Utrecht · NLChildren's Hospital of Philadelphia · USCharles University · CZAssistance Publique – Hôpitaux de Paris · FREuropean Bioinformatics Institute · GBSorbonne Université · FRCentre Hospitalier Universitaire Sainte-Justine · CAHospital for Sick Children · CAUniversité de Montréal · CAAlbany Medical Center Hospital · USCentre Hospitalier Universitaire de La Réunion · FRCentre National de la Recherche Scientifique · FRFiladelfia · DKGroupe Hospitalier de l'Institut Catholique de Lille · FRHôpital Raymond-Poincaré · FRUniversité Libre de Bruxelles · BEAmbry Genetics (United States) · USAntwerp University Hospital · BEBicêtre Hospital · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.

Identifiers

PMID30279470
PMCPMC7608434
OpenAlexW2895208514

What OpenQuestion holds

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LicenceCC BY
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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.