Evidence map›Paper›PMID 37240074›Full record

ArticleInternational journal of molecular sciences2023

WGS Revealed Novel

Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker and 9 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.2field-weighted citation impact, top 12% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025
    Review
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 4 institutions in 1 country.

Adella KaramLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Clarisse DelvalléeLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Alejandro Estrada-CuzcanoLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.ORCID 0000-0001-9868-2465
Véronique GeoffroyLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Jean-Baptiste LamoucheLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Anne-Sophie LeuvreyLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Elsa NourissonLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Julien TarabeuxLaboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Corinne StoetzelLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Sophie ScheideckerLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Louise Frances PorterLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Emmanuelle GéninInserm, Université de Brest, EFS, UMR 1078, GGB, F-29200 Brest, France.ORCID 0000-0003-4117-2813
Richard RedonCHU Nantes, CNRS, INSERM, L'institut du Thorax, Nantes Université, 44000 Nantes, France.
Florian SandronCEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057 Evry, France.ORCID 0000-0001-7491-0283
Anne BolandCEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057 Evry, France.ORCID 0000-0001-8789-5676
Jean-François DeleuzeCEA, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057 Evry, France.ORCID 0000-0002-5358-4463
Nicolas Le MayLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Hélène DollfusLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.
Jean MullerLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine FMTS, Université de Strasbourg, 67000 Strasbourg, France.ORCID 0000-0002-7682-559X
Inserm · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRHôpitaux Universitaires de Strasbourg · FRCentre National de la Recherche Scientifique · FR

Funding

Agence de la Biomédecine Muller 2022EJP RD EJPRD19-234Fondation Maladie Rare High throughput sequencing and rare diseasesFondation pour la Recherche Médicale ECO20170637509JED fundation Dollfus 2020
6 · The paper itself

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants have been identified in at least 24 genes delineating the genetic heterogeneity of BBS. Among those,

Indexed as

Bardet-Biedl SyndromePolydactylyChild, PreschoolCytoskeletal ProteinsHedgehog ProteinsHumansMaleMutationPhenotypePhosphate-Binding ProteinsProtein TransportBBS5 protein, humanCytoskeletal ProteinsHedgehog ProteinsPhosphate-Binding ProteinsBardet–Biedl syndromeBBS5 geneprimary ciliumstructural variationwhole-genome sequencing

Identifiers

PMID37240074
PMCPMC10218572
OpenAlexW4378516805

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.