Evidence map›Paper›PMID 24599252›Full record

ReviewKidney international2014

Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.

Elizabeth J Brown, Martin R Pollak, Moumita Barua

Open access · bronzeAbstract readReview
In one paragraph

Review in Kidney international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
6.2field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 72 citations in OpenAlex.

  1. Review
  2. New therapeutic hope for rare podocytopathies.Pediatric nephrology (Berlin, Germany) · 2026
    Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Focal segmental glomerulosclerosis with a mutation in theMolecular genetics and metabolism reports · 2023
    Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Contributions of Rare Gene Variants to Familial and Sporadic FSGS.Journal of the American Society of Nephrology : JASN · 2019
    Article
  14. Article
  15. Review
  16. Article
  17. New Mutation of Coenzyme QChinese medical journal · 2018
    Article
  18. Article
  19. Article
  20. 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

3 authors at 3 institutions in 2 countries.

Elizabeth J BrownDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Martin R PollakDepartment of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA.
Moumita Barua1] Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA [2] Department of Medicine, Toronto General Hospital, Toronto, Ontario, Canada.
Harvard University · USThe University of Texas Southwestern Medical Center · USToronto General Hospital · CA

Funding

The Genetic Basis of FSGSR01DK054931 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI POLLAK, MARTIN R. · 1999 to 2017
$6.2M
NIDDK NIH HHS R01 DK054931
6 · The paper itself

Abstract

The haploid human genome is composed of three billion base pairs, about one percent of which consist of exonic regions, the coding sequence for functional proteins, also now known as the 'exome'. The development of next-generation sequencing makes it possible from a technical and economic standpoint to sequence an individual's exome but at the cost of generating long lists of gene variants that are not straightforward to interpret. Various public consortiums such as the 1000 Genomes Project and the NHLBI Exome Sequencing Project have sequenced the exomes and a subset of entire genomes of over 2500 control individuals with ongoing efforts to further catalog genetic variation in humans.(1) The use of these public databases facilitates the interpretation of these variant lists produced by exome sequencing and, as a result, novel genetic variants linked to the disease are being discovered and reported at a record rate. However, the interpretation of these results and their bearing on diagnosis, prognosis, and treatment is becoming even more complicated. Here, we discuss the application of genetic testing to individuals with focal and segmental glomerulosclerosis (FSGS), taking a historical perspective on gene identification and its clinical implications along with the growing potential of next-generation sequencing.

Indexed as

DNA Mutational AnalysisMutationBlack or African AmericanGenetic Predisposition to DiseaseGenetic TestingGlomerulosclerosis, Focal SegmentalHumansNephrotic SyndromePhenotypePredictive Value of TestsPrognosisRisk Factors

Identifiers

PMID24599252
PMCPMC4118212
OpenAlexW2123431118

What OpenQuestion holds

Textmetadata
LicenceTDM
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.