Evidence map›Paper›PMID 33196317›Full record

ArticleCirculation. Genomic and precision medicine2020

Monoallelic Mutations in

Alvin Chun Hang Ma, Christopher Chun Yu Mak, Kit San Yeung, Steven Lim Cho Pei, Dingge Ying, Mullin Ho Chung Yu, Kazi Md Mahmudul Hasan, Xiangke Chen, Pak Cheong Chow, Yiu Fai Cheung and 1 more

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

Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.3field-weighted citation impact, top 42% 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

12 citing papers in PubMed, 12 citations in OpenAlex.

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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

11 authors at 3 institutions in 5 countries.

Alvin Chun Hang Ma *Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong Special Administrate Region, China (A.C.H., K.M.M.H.).
Christopher Chun Yu Mak *Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Kit San YeungDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Steven Lim Cho PeiDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Dingge YingDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Mullin Ho Chung YuDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Kazi Md Mahmudul HasanDepartment of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong Special Administrate Region, China (A.C.H., K.M.M.H.).
Xiangke ChenLaboratory of Neurodegenerative Diseases, School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China (X.C.).
Pak Cheong ChowDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Yiu Fai CheungDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Brian Hon Yin ChungDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Kong Kong, Hong Kong Special Administrate Region, China (C.C.Y.M., K.S.Y., S.L.C.P., D.Y., M.H.C.Y., P.C.C., Y.F.C., B.H.Y.C.).
Yong-in Songdam College · KRHong Kong Polytechnic University · HKUniversity of Hong Kong · HK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHuman heterotaxy is a group of congenital disorders characterized by misplacement of one or more organs according to the left-right axis. The genetic causes of human heterotaxy are highly heterogeneous.

methodsWe performed exome sequencing in a cohort of 26 probands with heterotaxy followed by gene burden analysis for the enrichment of novel rare damaging mutations. Transcription activator-like effector nuclease was used to generate somatic loss-of-function mutants in a zebrafish model. Ciliary defects were examined by whole-mount immunostaining of acetylated α-tubulin.

resultsWe identified a significant enrichment of novel rare damaging mutations in the

conclusionsUsing a zebrafish model, we were able to establish a novel association of

Indexed as

AllelesGenetic Predisposition to DiseaseAnimalsCiliaDisease Models, AnimalDNA-Binding ProteinsDNA Copy Number VariationsExome SequencingGerm-Line MutationHeterotaxy SyndromeHeterozygoteHumansMutationPenetrancePhenotypePolymorphism, Single NucleotideCC2D1A protein, humanDNA-Binding ProteinsTranscription Activator-Like Effector Nucleasesciliaexomeheterotaxy syndromeisomerismzebrafish

Identifiers

PMID33196317
PMCPMC7748040
OpenAlexW3104443731

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.