Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V

Open source

DOI: 10.1186/s13395-018-0170-1
Published: 2018 Jul 30
Container: Skeletal muscle
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1186/s13395-018-0170-1,
  title = {Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.},
  author = {Johnson K and Bertoli M and Phillips L and Töpf A and Van den Bergh P and Vissing J and Witting N and Nafissi S and Jamal-Omidi S and Łusakowska A and Kostera-Pruszczyk A and Potulska-Chromik A and Deconinck N and Wallgren-Pettersson C and Strang-Karlsson S and Colomer J and Claeys KG and De Ridder W and Baets J and von der Hagen M and Fernández-Torrón R and Zulaica Ijurco M and Espinal Valencia JB and Hahn A and Durmus H and Willis T and Xu L and Valkanas E and Mullen TE and Lek M and MacArthur DG and Straub V},
  year = {2018},
  journal = {Skeletal muscle},
  doi = {10.1186/s13395-018-0170-1},
  url = {https://doi.org/10.1186/s13395-018-0170-1}
}

RIS

TY  - JOUR
TI  - Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
AU  - Johnson K
AU  - Bertoli M
AU  - Phillips L
AU  - Töpf A
AU  - Van den Bergh P
AU  - Vissing J
AU  - Witting N
AU  - Nafissi S
AU  - Jamal-Omidi S
AU  - Łusakowska A
AU  - Kostera-Pruszczyk A
AU  - Potulska-Chromik A
AU  - Deconinck N
AU  - Wallgren-Pettersson C
AU  - Strang-Karlsson S
AU  - Colomer J
AU  - Claeys KG
AU  - De Ridder W
AU  - Baets J
AU  - von der Hagen M
AU  - Fernández-Torrón R
AU  - Zulaica Ijurco M
AU  - Espinal Valencia JB
AU  - Hahn A
AU  - Durmus H
AU  - Willis T
AU  - Xu L
AU  - Valkanas E
AU  - Mullen TE
AU  - Lek M
AU  - MacArthur DG
AU  - Straub V
PY  - 2018
JO  - Skeletal muscle
DO  - 10.1186/s13395-018-0170-1
UR  - https://doi.org/10.1186/s13395-018-0170-1
ER  -

APA

K, J., M, B., L, P., A, T., P, V. D. B., J, V., N, W., S, N., S, J., A, Ł., A, K., A, P., N, D., C, W., S, S., J, C., KG, C., W, D. R., J, B., M, V. D. H., R, F., M, Z. I., JB, E. V., A, H., H, D., T, W., L, X., E, V., TE, M., M, L., DG, M., & V, S. (2018). Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.. Skeletal muscle. https://doi.org/10.1186/s13395-018-0170-1

Source records

pubmed · retrieved 2026-09-27T15:04:00.119Z