Evidence map›Paper›PMID 28588821›Full record

ArticleClinical case reports2017

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and

Sureni V Mullegama, Phillip Jensik, Chen Li, Naghmeh Dorrani, UCLA Clinical Genomics Center, Sibel Kantarci, Bruce Blumberg, Wayne W Grody, Samuel P Strom

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 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.

  1. Article
  2. Cold Spring Harbor molecular case studies · 2022
    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

9 authors.

Sureni V MullegamaUCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
Phillip JensikDepartment of Physiology Southern Illinois University School of Medicine Carbondale Illinois.
Chen LiDepartment of Cellular and Genetic Medicine School of Basic Medical Sciences Fudan University Shanghai China.
Naghmeh DorraniUCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
UCLA Clinical Genomics Center
Sibel KantarciUCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
Bruce BlumbergKaiser Permanente Oakland California.
Wayne W GrodyUCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.
Samuel P StromUCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.ORCID 0000-0003-3254-7564

Funding

Effects of DEAF1 on Neuronal Activity and Target Gene Expression.R21NS091724 · NINDS · SOUTHERN ILLINOIS UNIVERSITY CARBONDALE · PI JENSIK, PHILIP J. · 2015 to 2016
$406k
NINDS NIH HHS R21 NS091724
6 · The paper itself

Abstract

Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into multiple genetic etiologies. Further, functional studies on variants of uncertain significance are necessary to arrive at an accurate diagnosis for the patient.

Indexed as

Clinical exome sequencingDEAF1familial Mediterranean feverMED13LMED13L haploinsufficiency syndromeMEFV

Identifiers

PMID28588821
PMCPMC5458005

What OpenQuestion holds

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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.