Evidence map›Paper›PMID 31395617›Full record

ArticleJournal of the American Society of Nephrology : JASN2019

Whitney Besse, Alex R Chang, Jonathan Z Luo, William J Triffo, Bryn S Moore, Ashima Gulati, Dustin N Hartzel, Shrikant Mane, Regeneron Genetics Center, Vicente E Torres and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
89citing papers in PubMed, 1 pooled it
9.7field-weighted citation impact, top 2% 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

89 citing papers in PubMed, 1 synthesis or guideline pooled it, 154 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Review
  6. Article
  7. A Ciliary Phosphoinositide Pathway Regulates the Dosage of Polycystins in Primary Cilia.Journal of the American Society of Nephrology : JASN · 2026
    Article
  8. Review
  9. Article
  10. Article
  11. Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026
    Article
  12. Review
  13. Article
  14. Article
  15. Inhibition of the inflammasome ameliorates orthologous polycystic kidney disease.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  16. End Point Selection in ADPKD Clinical Trials.Kidney international reports · 2025
    Review
  17. Article
  18. Review
  19. Article
  20. Glycosylation in kidney diseases.Precision clinical medicine · 2025
    Review

29 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 6 institutions in 2 countries.

Whitney BesseDepartments of Internal Medicine (Nephrology) and.ORCID 0000-0002-8283-1507
Alex R ChangDepartments of Nephrology.
Jonathan Z LuoMolecular and Functional Genomics.ORCID 0000-0003-2567-1516
William J TriffoRadiology, and.
Bryn S MooreMolecular and Functional Genomics.
Ashima GulatiDepartments of Internal Medicine (Nephrology) and.
Dustin N HartzelBiomedical and Translational Informatics, Geisinger Clinic, Danville, Pennsylvania; and.ORCID 0000-0002-9057-2832
Shrikant ManeGenetics, Yale University School of Medicine, New Haven, Connecticut.
Regeneron Genetics Center
Vicente E TorresDivision of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota.
Stefan SomloDepartments of Internal Medicine (Nephrology) and stefan.somlo@yale.edu tmirshahi@geisinger.edu.
Tooraj MirshahiBiomedical and Translational Informatics, Geisinger Clinic, Danville, Pennsylvania; and stefan.somlo@yale.edu tmirshahi@geisinger.edu.
Geisinger Medical Center · USGenomics (United Kingdom) · GBYale University · USMayo Clinic · USPediatric Nephrology of Alabama · USUniversity Radiology · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Renal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ISHIBE, SHUTA · 2008 to 2022
$16.8M
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
Pilot and FeasibilityP30DK090728 · NIDDK · MAYO CLINIC ROCHESTER · PI TORRES, VICENTE E · 2010 to 2019
$11.8M
GENETICS OF AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASER01DK051041 · NIDDK · YESHIVA UNIVERSITY · PI SOMLO, STEFAN · 1995 to 2010
$3.4M
An integrated approach to study GPCR variants associated with complex diseasesR01GM111913 · NIGMS · GEISINGER CLINIC · PI MIRSHAHI, TOORAJ, ROBISHAW, JANET D · 2015 to 2018
$2.1M
Mechanisms of Polycystin and Cilia Function in ADPKDR01DK100592 · NIDDK · YALE UNIVERSITY · PI SOMLO, STEFAN · 2013 to 2017
$1.8M
Molecular genetic bases of polycystic and tubulointerstitial kidney diseasesK08DK119642 · NIDDK · YALE UNIVERSITY · PI BESSE, WHITNEY ELISE · 2019 to 2023
$939k
High Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890k
Morbid Obesity, Bariatric Surgery, and Kidney FunctionK23DK106515 · NIDDK · GEISINGER CLINIC · PI CHANG, ALEXANDER R · 2015 to 2019
$890k
NCATS NIH HHS UL1 TR001863NHGRI NIH HHS UM1 HG006504NIDDK NIH HHS K08 DK119642NIDDK NIH HHS K23 DK106515NIDDK NIH HHS P30 DK079310NIDDK NIH HHS P30 DK090728NIDDK NIH HHS R01 DK051041NIDDK NIH HHS R01 DK100592NIGMS NIH HHS R01 GM111913NIH HHS S10 OD018521
6 · The paper itself

Abstract

backgroundMutations in

methodsWe used whole-exome sequencing in a cohort of 122 patients with genetically unresolved clinical diagnosis of ADPKD or polycystic liver disease to identify a candidate gene,

resultsTwo patients in the clinically defined cohort had rare loss-of-function variants in

conclusions

Indexed as

HeterozygoteMutationAdultAgedAged, 80 and overCystsExome SequencingFemaleHumansLiver DiseasesMaleMannosyltransferasesMembrane ProteinsMiddle AgedPolycystic Kidney, Autosomal DominantALG9 protein, humanMannosyltransferasesMembrane ProteinsADPKDchronic renal diseasecystic kidneyhuman geneticskidney stonespolycystic kidney disease

Identifiers

PMID31395617
PMCPMC6830805
OpenAlexW2967901915

What OpenQuestion holds

Textmetadata
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.