Evidence map›Paper›PMID 42909895›Full record

ArticleBrain communications2026

Decoding common and complex genotypes of facioscapulohumeral muscular dystrophy using methylation profiling and long-read sequencing.

Florentine Scharf, Morghan C Lucas, Stefanie Gehling, Felix Kleefeld, Veronika Schönrock, Anna Benet-Pagès, Hans-Werner Rausch, Lucas Schirmer, Jochen Schäfer, Annika Saak and 25 more

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Article in Brain communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

35 authors.

Florentine ScharfMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Morghan C LucasMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.ORCID https://orcid.org/0000-0001-7654-9137
Stefanie GehlingMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Felix KleefeldDepartment of Neurology, BG University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum 44789, Germany.
Veronika SchönrockMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Anna Benet-PagèsMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Hans-Werner RauschDepartment of Neurology and Mannheim Center for Translational Neuroscience, Medical Faculty Mannheim, Heidelberg University, Mannheim 68167, Germany.
Lucas SchirmerDepartment of Neurology and Mannheim Center for Translational Neuroscience, Medical Faculty Mannheim, Heidelberg University, Mannheim 68167, Germany.ORCID https://orcid.org/0000-0001-7142-4116
Jochen SchäferDepartment of Neurology, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden 01307, Germany.
Annika SaakDepartment of Neurology, University Hospital Linz, Linz 4021, Austria.
Joseph PorrmannInstitute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden 01307, Germany.
Sylvia HütterInstitute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden 01307, Germany.
Christina EmdeDepartment of Neuropediatrics, University Hospital Carl Gustav Carus at TUDDresden University of Technology, Dresden 01307, Germany.
Anne BoblestDepartment of Neuropediatrics, University Hospital Carl Gustav Carus at TUDDresden University of Technology, Dresden 01307, Germany.
Svenja NeuhoffDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen 45147, Germany.
Tim HagenackerDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen 45147, Germany.
Sebastian BurkartInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.
Sebastian MingersNeurologie Mingers, Übach-Palenberg 52531, Germany.
Ann-Cathrine BerkingInstitute for Human Genetics, Hannover Medical School, Hannover 30625, Germany.
Lisa OlfeInstitute for Human Genetics, Hannover Medical School, Hannover 30625, Germany.
Corinna HendrichInstitute for Human Genetics, Hannover Medical School, Hannover 30625, Germany.
Kristin SchröckMitteldeutscher Praxisverbund Humangenetik, Leipzig 04103, Germany.
Elizabeta SauerClinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg 97080, Germany.
Agata A MossakowskiDepartment of Neurology with Experimental Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin 10117, Germany.
Kai SendelbachMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Udo KoehlerMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Kerstin BeckerMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Tobias BartolomaeusMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Ariane HallermayrMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.ORCID https://orcid.org/0000-0002-6503-1874
Barbara KlinkMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Teresa NeuhannMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Maggie C WalterFriedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich 80336, Germany.
Benedikt SchoserFriedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich 80336, Germany.ORCID https://orcid.org/0000-0002-2757-8131
Angela AbichtMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.
Hannes ErdmannMGZ - Medizinisch Genetisches Zentrum, Munich 80335, Germany.ORCID https://orcid.org/0000-0002-2620-1850

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Due to the complexity of the genomic region, the relationship between genotype, phenotype and epigenetics in facioscapulohumeral muscular dystrophy remains incompletely understood, and diagnostics are limited in precision. In this study, we applied Oxford Nanopore Technology long-read sequencing to characterize FSHD1 and FSHD2 patients with common and previously confirmed genotypes (

Indexed as

FSHDlong-read sequencingmethylationnanopore sequencing

Identifiers

PMID42909895
PMCPMC13685627

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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.