Evidence map›Paper›PMID 35401678›Full record

ArticleFrontiers in genetics2022

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Fatemeh Ghorbani, Mohamed Z Alimohamed, Juliana F Vilacha, Krista K Van Dijk, Jelkje De Boer-Bergsma, Michiel R Fokkens, Henny Lemmink, Rolf H Sijmons, Birgit Sikkema-Raddatz, Matthew R Groves and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 41% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. High Prevalence of the Intronic GAA-Neurology. Genetics · 2025
    Article
  4. Article
  5. Genetic Variant inInternational journal of molecular sciences · 2023
    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 at 3 institutions in 2 countries.

Fatemeh GhorbaniDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Mohamed Z AlimohamedDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Juliana F VilachaGroningen Biomolecular Sciences and Biotechnology Institute, Zernike Institute for Advanced Materials, University of Groningen, Groningen, Netherlands.
Krista K Van DijkDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Jelkje De Boer-BergsmaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Michiel R FokkensDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Henny LemminkDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Rolf H SijmonsDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Birgit Sikkema-RaddatzDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Matthew R GrovesStructural Biology in Drug Design, Department of Drug Design, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, Netherlands.
Corien C Verschuuren-BemelmansDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Dineke S VerbeekDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Cleo C Van DiemenDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Helga WestersDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
University of Groningen · NLUniversity Medical Center Groningen · NLMuhimbili University of Health and Allied Sciences · TZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family members. While advances in sequencing and computing technologies have provided researchers with a rapid expansion in the genetic test content that can be used to unravel the genetic causes that underlie diseases, the large number of variants with unknown significance (VUSes) detected represent challenges. To minimize the proportion of VUSes, follow-up studies are needed to aid in their reclassification as either (likely) pathogenic or (likely) benign variants. In this study, we addressed the challenge of prioritizing VUSes for follow-up using (a combination of) variant segregation studies, 3D protein modeling,

Indexed as

functional studiesgene panelgenetic diagnosticsprotein modelingsegregationspinocerebellar ataxiavariant of unknown significance

Identifiers

PMID35401678
PMCPMC8990126
OpenAlexW4220779853

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.