Evidence map›Paper›PMID 39081270›Full record

ReviewTherapeutic advances in rare disease

Koolen-de Vries Syndrome: a journey from diagnosis to treatments.

Anna C Pfalzer, Blake Ivers, Alayna Haynam, Barbara Drake, David A Koolen, Nael Nadif Kasri, Bert B A de Vries, Heather C Mefford, Angela Morgan, Terry Jo Bichell and 4 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Therapeutic advances in rare disease. 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. Promoter mutagenesis and a massively parallel reporter screen of thebioRxiv : the preprint server for biology · 2026
    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

14 authors.

Anna C PfalzerDepartment of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID https://orcid.org/0000-0001-8317-3318
Blake IversKoolen-de Vries Syndrome Foundation, Wilmington, NC, USA.
Alayna HaynamKoolen-de Vries Syndrome Foundation, Wilmington, NC, USA.
Barbara DrakeKoolen-de Vries Syndrome Foundation, Wilmington, NC, USA.
David A KoolenRadboud University Medical Center, Nijmegen, the Netherlands.
Nael Nadif KasriRadboud University Medical Center, Nijmegen, the Netherlands.
Bert B A de VriesRadboud University Medical Center, Nijmegen, the Netherlands.
Heather C MeffordSt Jude Children's Research Hospital, Memphis, TN, USA.
Angela MorganMurdoch Children's Research Institute, Parkville, VIC, Australia.
Terry Jo BichellCOMBINEDBrain, Brentwood, TN, USA.
Elijah SimonCOMBINEDBrain, Brentwood, TN, USA.ORCID https://orcid.org/0000-0003-2152-6127
Ananya TeralaCOMBINEDBrain, Brentwood, TN, USA.
Kenneth A MyersResearch Institute of the McGill University Health Centre, Montreal, QC, Canada.
Ashley PointKoolen-de Vries Syndrome Foundation, Wilmington, NC, USA.

Funding

Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jeffrey L Neul · 2020 to 2026
$10.3M
NICHD NIH HHS P50 HD103537
6 · The paper itself

Abstract

The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this aim, the foundation has focused on: developing scientific resources through patient cell and animal models, providing seed funding to basic and clinical researchers, establishing a natural history study of KdVS and increasing patient engagement. Projects have been prioritized across these areas of focus with an emphasis on expanding international research on KdVS, supporting translational research, establishing an international natural history study and conducting studies to assess patient priorities. With the incredible growth amongst our research and patient community in the last decade, our goal is to have our first clinical trial for KdVS in 2026.

Indexed as

haploinsufficiencyKoolen-de Vries Syndromeneurodevelopmentalstrategic research plan

Identifiers

PMID39081270
PMCPMC11287726

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.