Evidence map›Paper›PMID 37684057›Full record

ArticleCold Spring Harbor molecular case studies2023

De novo

Jagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael A Gargano, Anxhela Gjyshi Gustafson, Ellen M Raney, Mallory Shingle and 2 more

Open access · diamondAbstract read
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Article
  3. 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

12 authors at 5 institutions in 1 country.

Jagadish Chandrabose SundaramurthiThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0002-6670-9157
Anita M BagleyShriners Children's Northern California, Sacramento, California 95817, USA.ORCID 0000-0001-9118-8798
Hannah BlauThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0003-4557-5492
Leigh CarmodyThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0001-7941-2961
Amy CrandallShriners Children's, Portland, Oregon 97239, USA.ORCID 0000-0002-8494-5436
Daniel DanisThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0003-0900-3411
Michael A GarganoThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0002-2157-3591
Anxhela Gjyshi GustafsonShriners Children's Genomics Institute, Tampa, Florida 33612, USA.
Ellen M RaneyShriners Children's, Portland, Oregon 97239, USA.
Mallory ShingleShriners Children's Northern California, Sacramento, California 95817, USA.ORCID 0000-0001-6042-2537
Jon R DavidsShriners Children's Northern California, Sacramento, California 95817, USA.ORCID 0000-0002-1639-6519
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA; peter.robinson@jax.org.ORCID 0000-0002-0736-9199
Jackson Laboratory · USShriners Hospitals for Children - Northern California · USShriners Hospitals for Children - Portland · USShriners Hospitals for Children - Tampa · USUniversity of Connecticut · US

Funding

Increasing the Yield and Utility of Pediatric Genomic Medicine with ExomiserR01HD103805 · NICHD · JACKSON LABORATORY · PI Valentina Cipriani, CHRISTOPHER J MUNGALL · 2021 to 2026
$4.3M
NICHD NIH HHS R01 HD103805
6 · The paper itself

Abstract

We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (

Indexed as

Cerebral PalsyIntellectual DisabilityNervous System MalformationsTRPM Cation ChannelsHumansMutation, MissensePhenotypeTRPM3 protein, humanTRPM Cation Channelsabsent speechbilateral convulsive seizuresbilateral talipes equinovarusbroad foreheaddeeply set eyeintellectual disability, moderatelanguage impairmentmoderate global developmental delaythoracic scoliosistorticollis

Identifiers

PMID37684057
PMCPMC10815282
OpenAlexW4386533542

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.