Evidence map›Paper›PMID 38943243›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2024

Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease.

Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurène Tissier, Eric LeGuern, Andrew B Singleton and 5 more

Abstract readLetter
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  3. Article
  4. Screening of Hidden Pathogenic Structural Variants in PRKN.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  5. Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025
    Review
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Guillaume CoganLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0003-3505-7114
Kensuke DaidaLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Kimberley J BillingsleyLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-8003-4029
Christelle TessonInstitut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.ORCID https://orcid.org/0000-0001-7589-3710
Sylvie ForlaniInstitut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Ludmila JorneaInstitut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Lionel ArnaudAP-HP Sorbonne Université, Département de génétique médicale, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
Laurène TissierAP-HP Sorbonne Université, Département de génétique médicale, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
Eric LeGuernAP-HP Sorbonne Université, Département de génétique médicale, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
Andrew B SingletonLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Mélanie FerrienInstitut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Hélène Gervais BernardService de Neurologie C, Claude Bernard Lyon I, Université de Lyon, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
Suzanne LesageInstitut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0001-9358-8111
Alexis BriceInstitut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Fondation pour la Recherche Médicale MND202004011718Intramural NIH HHS Z99 AG999999Intramural NIH HHS ZIA AG000949the Intramural Research Programs of the National Institute on Aging (NIA) project ZIA AG000949
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

long‐read sequencingParkinson's diseasePRKN

Identifiers

PMID38943243
PMCPMC11499035

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.