Evidence map›Paper›PMID 31105273›Full record

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

Significant contribution of intragenic deletions to ARID1B mutation spectrum.

Svetlana Gorokhova, Jeremie Mortreux, Alexandra Afenjar, Tania Attie-Bitach, Maud Blanluet, Valérie Cormier-Daire, Anne-Marie Guerrot, Anne-Sophie Lebre, Valérie Malan, Gael Nicolas and 5 more

Abstract readLetterComment
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Response to Gorokhova et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Svetlana GorokhovaDépartement de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France. svetlana.gorokhova@univ-amu.fr.ORCID http://orcid.org/0000-0001-6870-4061
Jeremie MortreuxDépartement de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France.ORCID http://orcid.org/0000-0002-2914-1961
Alexandra AfenjarDépartement de génétique et embryologie médicale, Hôpital Trousseau, Assistance publique-Hôpitaux de Paris, Paris, France.
Tania Attie-BitachFédération de Génétique Médicale, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.ORCID http://orcid.org/0000-0002-1155-3626
Maud BlanluetDepartment of Genetics, Institut Curie, Paris, France.
Valérie Cormier-DaireFédération de Génétique Médicale, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
Anne-Marie GuerrotNormandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Anne-Sophie LebreDepartment of Genetics, Reims University Hospital, Reims, France.
Valérie MalanFédération de Génétique Médicale, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
Gael NicolasNormandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.ORCID http://orcid.org/0000-0001-9391-7800
Sophie RondeauFédération de Génétique Médicale, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
Nicole PhilipDépartement de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France.
Pascale Saugier-VeberNormandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Catherine BadensDépartement de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France.
Chantal MissirianDépartement de Génétique Médicale, APHM, CHU Timone Enfants, Marseille, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Hand Deformities, CongenitalIntellectual DisabilityMicrognathismAbnormalities, MultipleDNA-Binding ProteinsFaceHumansMutationNeckTranscription FactorsARID1B protein, humanDNA-Binding ProteinsTranscription Factors

Identifiers

PMID31105273

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.