Evidence map›Paper›PMID 36379543›Full record

ArticleJournal of medical genetics2023

X-linked variations in

Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz and 13 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
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

23 authors at 11 institutions in 4 countries.

Caroline M KolvenbachInstitute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Tim FelgerInstitute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Luca SchierbaumInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Isabelle ThiffaultGenomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.
Tomi PastinenGenomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.
Maria SzczepańskaDepartment of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Zabrze, Poland.
Marcin ZaniewDepartment of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.
Piotr AdamczykDepartment of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland.
Allan BayatDepartment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
Öznur YilmazInstitute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Tobias T LindenbergInstitute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Holger ThieleCologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-3845-3489
Katrin HinderhoferInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Ute MoogInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Alina C HilgerDepartment of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.
Bonnie SullivanDivision of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
Lauren BartikDivision of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
Piotr GnyśMedeor Hospital, Department of Genetics, Lodz, Poland.
Phillip GroteInstitute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.
Benjamin OdermattInstitute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Heiko M Reutter *Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.ORCID 0000-0002-3591-5265
Gabriel C Dworschak *Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany gabriel.dworschak@uni-bonn.de.ORCID 0000-0003-0015-6964
University of Bonn · DEChildren's Mercy Hospital · USBoston Children's Hospital · USFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHeidelberg University · DEMedical University of Silesia · PLGoethe University Frankfurt · DEMedical University of Lodz · PLUniversity of Cologne · DEUniversity of Southern Denmark · DKUniversity of Zielona Góra · PL

Funding

Novel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6M
Identification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3M
New genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4M
NIDDK NIH HHS R01 DK068306NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK088767Wellcome Trust
6 · The paper itself

Abstract

background

methodsHere, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and

resultsIn this study, we identified putative disease-causing SNVs and CNVs in

conclusionThe identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest

Indexed as

Cardiovascular SystemUrinary TractAnimalsCentral Nervous SystemDNA Copy Number VariationsFemaleHumansMiceMorpholinosPregnancyZebrafishMorpholinoscongenital, hereditary, and neonatal diseases and abnormalitiesdigestive system abnormalitiesgenetic counselingheart defects, congenitalnervous system malformations

Identifiers

PMID36379543
PMCPMC10262053
OpenAlexW4309166002

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.