Evidence map›Paper›PMID 28729373›Full record

ArticleCold Spring Harbor molecular case studies2017

The importance of managing the patient and not the gene: expanded phenotype of

Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang

Open access · diamondAbstract readCase Reports
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. 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.

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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Advances in the understanding of nuclear pore complexes in human diseases.Journal of cancer research and clinical oncology · 2024
    Review
  2. Article
  3. Review
  4. Article
  5. 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

7 authors at 2 institutions in 1 country.

Queenie K-G TanDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Allyn McConkie-RosellDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Jane JuusolaGeneDx, Gaithersburg, Maryland 20877, USA.
Kathryn E GustafsonDepartment of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Carolyn E PizoliDivision of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Anne F BuckleyDepartment of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Yong-Hui JiangDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Duke Medical Center · USDuke University Hospital · US

Funding

Characterizing the (epi)genetics of oxytocin response in clinical and animal modelsR01HD088007 · NICHD · DUKE UNIVERSITY · PI GREGORY, SIMON G, JIANG, YONG-HUI · 2017 to 2021
$2.9M
Epigenetic Therapy and Prader-Willi SyndromeR01HD088626 · NICHD · YALE UNIVERSITY · PI JIANG, YONG-HUI, JIN, JIAN · 2017 to 2021
$2.8M
Analysis of Shank3 Complete and Temporal and Spatial Specific Knockout MiceR01MH098114 · NIMH · DUKE UNIVERSITY · PI JIANG, YONG-HUI · 2012 to 2016
$2.2M
NICHD NIH HHS R01 HD088626NIMH NIH HHS R01 MH098114
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ArthrogryposisContractureExome SequencingFemaleHumansInfantInfant, NewbornMuscular Atrophy, SpinalMutationMutation, MissenseNucleocytoplasmic Transport ProteinsPedigreePhenotypeRNA, MessengerRNA TransportGle1 protein, humanNucleocytoplasmic Transport ProteinsRNA, Messengerabnormality of the lower motor neuronarthrogryposis multiplex congenitafetal akinesia sequencegeneralized muscle weaknessgeneralized neonatal hypotonia

Identifiers

PMID28729373
PMCPMC5701308
OpenAlexW2738781802

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.