Evidence map›Paper›PMID 37315340›Full record

ArticlePediatric neurology2023

A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype.

Nankee Kumar, Tomoki Nomakuchi, Arastoo Vossough, Jacqueline M M Leonard, Holly Dubbs, Sonika Agarwal

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

Article in Pediatric neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Regulation of INPP5E in Ciliogenesis, Development, and Disease.International journal of biological sciences · 2025
    Review
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

6 authors.

Nankee KumarPerelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Tomoki NomakuchiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Arastoo VossoughDepartment of Radiology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Jacqueline M M LeonardDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Holly DubbsDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Sonika AgarwalDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: agarwals2@chop.edu.

Funding

MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7M
NIGMS NIH HHS T32 GM008638
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Abnormalities, MultipleEye AbnormalitiesKidney Diseases, CysticCerebellumGenotypeHumansPhenotypePhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesRetinaPhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesExotropiaHead bobbingINPP5EJoubert syndromeOculomotor apraxia

Identifiers

PMID37315340
PMCPMC13479924

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.