Evidence map›Paper›PMID 32014855›Full record

ArticleCold Spring Harbor molecular case studies2020

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.

Melissa A Wilk, Andrew T Braun, Philip M Farrell, Anita Laxova, Donna M Brown, James M Holt, Camille L Birch, Nadiya Sosonkina, Brandon M Wilk, Elizabeth A Worthey

Open access · diamondAbstract read
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2024
    Article
  2. The Influence of a Genetic Variant inInternational journal of molecular sciences · 2024
    Article
  3. Review
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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

10 authors at 3 institutions in 1 country.

Melissa A WilkHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Andrew T BraunDepartment of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53792, USA.
Philip M FarrellDepartment of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53792, USA.
Anita LaxovaDepartment of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53792, USA.
Donna M BrownHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
James M HoltHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.ORCID 0000-0001-6411-9236
Camille L BirchHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Nadiya SosonkinaDepartment of Genetics, University of Alabama-Birmingham, Birmingham, Alabama 35233, USA.
Brandon M WilkHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Elizabeth A WortheyHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
HudsonAlpha Institute for Biotechnology · USUniversity of Wisconsin–Madison · USUniversity of Alabama at Birmingham · US

Funding

PULMONARY BENEFITS OF CYSTIC FIBROSIS NEONATAL SCREENINGR01DK034108 · NIDDK · UNIVERSITY OF WISCONSIN-MADISON · PI FARRELL, PHILIP M · 1986 to 2011
$6.9M
NIDDK NIH HHS R01 DK034108
6 · The paper itself

Abstract

Variations in disease onset and/or severity have often been observed in siblings with cystic fibrosis (CF), despite the same

Indexed as

PhenotypeSiblingsWhole Genome SequencingAdolescentBiomarkersChildChild, PreschoolCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenetic VariationGenome-Wide Association StudyGenotypeHumansInfant, NewbornMaleMutationBiomarkersCFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulatorbronchiectasischronic lung diseasediabetes mellituselevated sweat chlorideexocrine pancreatic insufficiencymeconium ileusmultiple bilateral pneumothoracesrecurrent Aspergillus infectionsrecurrent respiratory infections

Identifiers

PMID32014855
PMCPMC6996517
OpenAlexW3004466283

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.