Evidence map›Paper›PMID 28018608›Full record

ArticleHuman genome variation2016

Digenic mutations of human

Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane and 5 more

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

Article in Human genome variation, 2016. 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
0.9field-weighted citation impact, top 18% 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, 12 citations in OpenAlex.

  1. Review
  2. The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024
    Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. De novoCold Spring Harbor molecular case studies · 2018
    Article
  8. Article
  9. 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

15 authors at 4 institutions in 1 country.

Daniel DuranDepartment of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.ORCID 0000-0001-6888-252X
Sheng Chih JinDepartment of Genetics, Yale School of Medicine , New Haven, CT, USA.
Tyrone DeSpenzaDepartment of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.
Carol Nelson-WilliamsDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Andrea G CogalDivision of Nephrology and Hypertension, Mayo Clinic College of Medicine , Rochester, MN, USA.
Elizabeth W AbrashDivision of Nephrology and Hypertension, Mayo Clinic College of Medicine , Rochester, MN, USA.
Peter C HarrisDivision of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine, Rochester, MN, USA.
John C LieskeDivision of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; O'Brien Urology Research Center, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.
Serena Je ShimshakDepartment of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.
Shrikant ManeYale Center for Genome Analysis, Yale School of Medicine, Yale University , New Haven, CT, USA.
Kaya BilguvarYale Center for Genome Analysis, Yale School of Medicine, Yale University , New Haven, CT, USA.
Michael L DiLunaDepartment of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.
Murat GünelDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Richard P LiftonHoward Hughes Medical Institute , Chevy Chase, MD, USA.
Kristopher T KahleDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.
Yale University · USMayo Clinic · USHoward Hughes Medical Institute · USYale Cancer Center · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
Renal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8M
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
NHGRI NIH HHS UM1 HG006504NIDDK NIH HHS P30 DK079310NIGMS NIH HHS T32 GM007205
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID28018608
PMCPMC5143364
OpenAlexW2560197528

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.