Evidence map›Paper›PMID 32631816›Full record

ArticleJournal of medical genetics2021

Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn and 10 more

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.8field-weighted citation impact, top 15% 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

9 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
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  7. Cold Spring Harbor protocols · 2022
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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

20 authors at 6 institutions in 6 countries.

Jonathan MarquezPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.ORCID 0000-0003-3377-7599
Nina MannDivision of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Kathya AranaPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Engin DenizPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Weizhen JiPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Monica KonstantinoPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Emily K MisPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Charu DeshpandeDepartment of Clinical Genetics, Guy's Hospital, London, UK.
Lauren JeffriesPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Julie McGlynnDepartment of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut, USA.
Hannah HugoDivision of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Eugen WidmeierDivision of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-7773-5190
Martin KonradDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Velibor TasicDepartment of Pediatric Nephrology, University Children's Hospital, Skopje, North Macedonia.
Raffaella MorottiDepartment of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.
Julia BaptistaExeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Sian EllardExeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Saquib Ali LakhaniPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.ORCID 0000-0003-3235-3460
Friedhelm HildebrandtDivision of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-3845-3489
Mustafa K KhokhaPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA mustafa.khokha@yale.edu.
Yale University · USBoston Children's Hospital · USRoyal Devon & Exeter NHS Foundation Trust · GBGuy's Hospital · GBUniversity Hospital Münster · DEUniwersytecki Szpital Dziecięcy · PL

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
Skill Development for Diverse Scientific Careers: A New Course Predoctoral Program in Cellular and Molecular BiologyT32GM007223 · NIGMS · YALE UNIVERSITY · PI BASERGA, SUSAN J · 1985 to 2019
$31.0M
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Novel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6M
RESEARCH TRAINING IN PEDIATRIC NEPHROLOGYT32DK007726 · NIDDK · CHILDREN'S HOSPITAL BOSTON · PI BRISCOE, DAVID M. · 1994 to 2023
$5.9M
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
A system approach to the analysis of Heterotaxy Candidate GenesR01HD102186 · NICHD · YALE UNIVERSITY · PI KHOKHA, MUSTAFA K · 2020 to 2024
$3.1M
A system approach to the analysis of Heterotaxy Candiate GenesR01HD081379 · NICHD · YALE UNIVERSITY · PI KHOKHA, MUSTAFA K · 2014 to 2018
$2.7M
Analysis of Congenital Hydrocephalus Genes in XenopusR01NS127879 · NINDS · YALE UNIVERSITY · PI ENGIN DENIZ · 2022 to 2026
$2.3M
Xenopus as a Model System for Hydrocephaly and Ependymal CiliogenesisR21NS116484 · NINDS · YALE UNIVERSITY · PI DENIZ, ENGIN · 2020 to 2021
$433k
NCATS NIH HHS UL1 TR001863NHGRI NIH HHS UM1 HG008900NICHD NIH HHS R01 HD081379NICHD NIH HHS R01 HD102186NIDDK NIH HHS R01 DK068306NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK088767NIDDK NIH HHS T32 DK007726NIGMS NIH HHS T32 GM007205NIGMS NIH HHS T32 GM007223NINDS NIH HHS R01 NS127879NINDS NIH HHS R21 NS116484Wellcome Trust
6 · The paper itself

Abstract

backgroundCilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-known cause of several diseases that affect multiple organ systems including the kidneys, brain, heart, respiratory tract, skeleton and retina.

methodsAmong individuals from four unrelated families, we identified variants in

resultsPatients with variants of

conclusionThese findings in both patient tissues and

Indexed as

MutationAnimalsBrainChildCiliopathiesCohort StudiesCongenital AbnormalitiesDisease Models, AnimalExome SequencingFemaleFetusGene Knockdown TechniquesHedgehog ProteinsHumansKidneyMaleDLG5 protein, humanHedgehog ProteinsMembrane ProteinsTumor Suppressor Proteinsdevelopmentalgeneticshydrocephalusmolecular geneticsrenal medicine

Identifiers

PMID32631816
PMCPMC7785698
OpenAlexW3040614980

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.