Evidence map›Paper›PMID 30783266›Full record

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

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Melanie Fradin, Yline Capri, Delphine Héron, Marie-Christine Nougues and 21 more

Abstract readPublished Erratum
PubMed Full text at PMC 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. 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

31 authors.

Juliette PiardCentre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France.
Lara HawkesOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Mathieu MilhAix Marseille Univ, Inserm, MMG, Marseille, France.
Laurent VillardAix Marseille Univ, Inserm, MMG, Marseille, France.
Renato BorgattiNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Romina RomanielloNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy.
Melanie FradinService de Génétique, CLAD Ouest, CHU Rennes, Rennes, France.
Yline CapriDépartement de Génétique, Hôpital Robert Debré, APHP Paris, Paris, France.
Delphine HéronAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC "Déficience Intellectuelle et Autisme", Paris, France.
Marie-Christine NouguesNeuropédiatrie et Unité d'électrophysiologie clinique, Centre de Référence des Maladies Neuromusculaires de l'EST parisien et DHU I2B, Hôpital d'Enfants Armand Trousseau, Paris, France.
Caroline NavaDépartement de Génétique, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.
Oana Tarta ArsenePediatric Neurology Clinic, "Alexandru Obregia" Clinical Psychiatry Hospital, "Carol Davila" University of Medicine, Bucharest, Romania.
Debbie ShearsOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
John TaylorOxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford, UK.
Alistair PagnamentaNIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Jenny C TaylorNIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Yoshimi SogawaDivision of Pediatric Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Diana JohnsonDepartment of Clinical Genetics, Sheffield Children's NHS Trust, Sheffield, United Kingdom.
Helen FirthDepartment of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Pradeep VasudevanClinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK.
Gabriela JonesClinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK.
Marie-Ange Nguyen-MorelService de Neurologie pédiatrique, Hopital Couple Enfant, CHU Grenoble Alpes, Grenoble, France.
Tiffany BusaMedical Genetics, La Timone Children's Hospital, AP-HM, Marseille, France.
Agathe RoubertieDépartement de Neuropédiatrie, Centre Hospitalier Universitaire de Montpellier, INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France.
Myrthe van den BornDepartment for Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.
Elise Brischoux-BoucherCentre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France.
Michel KoenigEA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, Montpellier, France.
Cyril MignotAPHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC "Déficience Intellectuelle et Autisme", Paris, France.
DDD Study
Usha KiniOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. usha.kini@ouh.nhs.uk.
Christophe PhilippeLaboratoire de génétique, Innovations en diagnostic génomique des maladies rares, Plateau Technique de Biologie, CHU Dijon, Dijon, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published; thus amendments to the Abstract and Methods have been made as well as addition of the relevant authors and acknowledgment.

Identifiers

PMID30783266
PMCPMC7608131

What OpenQuestion holds

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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.