Evidence map›Paper›PMID 30770872›Full record

ArticleNature communications2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swoboda and 70 more

Abstract readPublished Erratum
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

80 authors.

Lot Snijders BlokDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.ORCID http://orcid.org/0000-0002-9825-3625
Justine RousseauCHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.
Joanna TwistNational Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.
Sophie EhresmannCHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.
Motoki TakakuNational Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.
Hanka VenselaarCentre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Lance H RodanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.
Catherine B NowakDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.
Jessica DouglasDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.
Kathryn J SwobodaDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
Marcie A SteevesDepartment of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA.
Inderneel SahaiDepartment of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA.
Connie T R M StumpelDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.
Alexander P A StegmannDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.
Patricia WheelerNemours Childrens Clinic, Orlando, FL, 32827, USA.
Marcia WillingDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Elise FialaDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Aaina KochharValley Children's Hospital, Madera, CA, 93636, USA.
William T GibsonBritish Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.
Ana S A CohenBritish Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.ORCID http://orcid.org/0000-0002-6353-6350
Ruky AgbahovbeBritish Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.ORCID http://orcid.org/0000-0001-9881-5467
P Y Billie AuDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.
Julia RankinDepartment of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.
Ilse J AndersonDivision of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN, 37920, USA.
Steven A SkinnerGreenwood Genetic Center, Greenwood, SC, 29646, USA.
Raymond J LouieGreenwood Genetic Center, Greenwood, SC, 29646, USA.
Hannah E WarrenGreenwood Genetic Center, Greenwood, SC, 29646, USA.
Alexandra AfenjarGRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
Boris KerenAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
Caroline NavaAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
Julien BurattiAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
Arnaud IsapofGRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases "Nord/Est/Ile-de-France", FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
Diana RodriguezGRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.
Raymond LewandowskiClinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA.
Jennifer PropstClinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA.
Ton van EssenClinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.
Murim ChoiDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.
Sangmoon LeeDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.
Jong H ChaeDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.
Susan PriceOxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.
Rhonda E SchnurGeneDx, Gaithersburg, MD, 20877, USA.
Ganka DouglasGeneDx, Gaithersburg, MD, 20877, USA.
Ingrid M WentzensenGeneDx, Gaithersburg, MD, 20877, USA.
Christiane ZweierInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.
André ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.
Martin G BialerNorthwell Health, Division of Medical Genetics and Genomics, Great Neck NY, 11021, USA.
Christine MooreNorthwell Health, Division of Medical Genetics and Genomics, Great Neck NY, 11021, USA.
Marije KoopmansDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Eva H BrilstraDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Glen R MonroeDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Koen L I van GassenDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Ellen van BinsbergenDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Ruth Newbury-EcobUniversity Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.
Lucy BownassUniversity Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.
Ingrid BaderDepartment of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.
Johannes A MayrDepartment of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.
Saskia B WortmannDepartment of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.
Kathy J JakielskiCommunication Sciences and Disorders, Augustana College, Rock Island, IL, 61201, USA.
Edythe A StrandDepartment of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
Katja KlothInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.
Tatjana BierhalsInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.
DDD study
John D RobertsNational Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.
Robert M PetrovichNational Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.
Shinichi MachidaWaseda University, Tokyo, 169-8050, Japan.
Hitoshi KurumizakaWaseda University, Tokyo, 169-8050, Japan.ORCID http://orcid.org/0000-0001-7412-3722
Stefan LelieveldDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Sandra JansenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Pelagia DeriziotisLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.
Laurence FaivreEquipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.
Julien ThevenonEquipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.
Mirna AssoumEquipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.
Lawrence ShribergWaisman Center, Phonology Project, Madison, WI, 53705-2280, USA.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Paul A WadeNational Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.ORCID http://orcid.org/0000-0002-6042-357X
Simon E FisherLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.ORCID http://orcid.org/0000-0002-3132-1996
Philippe M CampeauCHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada. p.campeau@umontreal.ca.ORCID http://orcid.org/0000-0001-9713-7107

Funding

Eukaryotic Transcriptional RegulationZIAES101965 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WADE, PAUL A · 2009 to 2025
$40.9M
Medical Research Council MC_PC_16018
6 · The paper itself

Abstract

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

Identifiers

PMID30770872
PMCPMC6377600

What OpenQuestion holds

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Registered trials

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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.