Evidence map›Paper›PMID 28050602›Full record

ArticleCold Spring Harbor molecular case studies2017

Exome sequencing identifies de novo pathogenic variants in

Diane B Zastrow, Patricia A Zornio, Annika Dries, Jennefer Kohler, Liliana Fernandez, Daryl Waggott, Magdalena Walkiewicz, Christine M Eng, Melanie A Manning, Ellyn Farrelly and 5 more

Registry-linked trialOpen access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. A genome-wide case-only test for the detection of digenic inheritance in human exomes.Proceedings of the National Academy of Sciences of the United States of America · 2020
    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.

Diane B ZastrowStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Patricia A ZornioStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Annika DriesStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Jennefer KohlerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Liliana FernandezStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Daryl WaggottStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Magdalena WalkiewiczBaylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
Christine M EngBaylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
Melanie A ManningDepartment of Pathology, Stanford School of Medicine, Stanford, California 94305, USA.
Ellyn FarrellyLucille Packard Children's Hospital Stanford, Palo Alto, California 94304, USA.
Undiagnosed Diseases Network
Paul G FisherStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Euan A AshleyStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Jonathan A BernsteinStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Matthew T WheelerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.ORCID http://orcid.org/0000-0001-8721-3022
Cardiovascular Institute of the South · USLucile Packard Children's Hospital · USStanford Medicine · USBaylor Genetics · US

Funding

Spectrum Stanford Center for clinical and Translational Research and EducationUL1TR001085 · NCATS · STANFORD UNIVERSITY · PI CULLEN, MARK RICHARD, GREENBERG, HARRY BERNARD · 2013 to 2017
$37.1M
Vanderbilt Center for Undiagnosed Diseases (VCUD) - BiorepositoryU01HG007674 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COGAN, JOY D, HAMID, RIZWAN · 2014 to 2022
$13.7M
Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2M
UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
Stanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0M
NCATS NIH HHS UL1 TR001085NHGRI NIH HHS U01 HG007674NHGRI NIH HHS U01 HG007703NHGRI NIH HHS U01 HG007708NHGRI NIH HHS U01 HG007942
6 · The paper itself

Abstract

Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in

Indexed as

central hypotoniacongenital diaphragmatic herniafourth toe clinodactylyhammertoeinguinal herniajoint laxitylong philtrummalar flatteningpes planusprotruding earsmooth philtrumsparse anterior scalp hairsparse lateral eyebrowsuperior pectus carinatumthin nailthin upper lip vermilionthoracic scoliosisumbilical hernia

Identifiers

PMID28050602
PMCPMC5171698
OpenAlexW2560700777

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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.