OSCR

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.

Overview

Authors: Alba Berzal-Serrano1,2, Sonia González-Alvaredo3, Iván Lesende3, Lidón Carretero-Vilarroig1,2, Teresa Jaijo1,4,5, Ignacio Onsurbe6, Karolina Aragon-Gawinska7,8, Nancy Carolina Ñungo-Garzón7,8, Inmaculada Pitarch-Castellano4,7,8, Juan Francisco Vázquez-Costa4,7,8,9, Elena Aller1,4,5, José María Millán1,4, Gema García-García1,4
  1. Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain
  2. Universitat Politécnica de València (UPV), Valencia, Spain
  3. Research and Development Unit. Health in code, Madrid, Spain
  4. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, Spain
  5. Genetics Unit, La Fe University and Polytechnic Hospital, Valencia, Spain
  6. Paediatric Neurology Service, University Hospital of Albacete, Albacete, Spain
  7. Neuromuscular Unit, Department of Paediatrics and Neurology, La Fe University and Polytechnic Hospital, Valencia, Spain
  8. Neuromuscular Research Unit, Health Research Institute La Fe, Valencia, Spain
  9. Department of Medicine, University of Valencia, Valencia, Spain
Institutions: Instituto de Investigación Sanitaria La Fe (Spain); Universitat Politècnica de València (Spain); Instituto de Salud Carlos III (Spain); Hospital Universitari i Politècnic La Fe (Spain); Centre for Biomedical Network Research on Rare Diseases (Spain); Hospital General Universitario de Albacete (Spain); Complejo Hospitalario Universitario de Albacete (Spain); Universitat de València (Spain)
Journal: NPJ genomic medicine, volume 11, issue 1, article 45
Dates: received 17 September 2025; accepted 8 May 2026; published online 20 May 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1038/s41525-026-00579-8 · PMID 42162012 · PMCID PMC13458669 · OpenAlex W7161786571
Open access: gold, a free copy (OpenAlex)
Status: code on request
Categories: human (organism)
Keywords: Diseases, Genetics, Neurology, Neuroscience
Topic: Neurogenetic and Muscular Disorders Research (Genetics, Medicine), according to OpenAlex
Funding: Instituto de Salud Carlos III (PI22/01371, PI22/00213, PI24/01512); Generalitat Valenciana (ACIF/2021/057)
Citations: cited by 1 paper (Europe PMC); 47 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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Data

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Code and data availability statement

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  • it says that the data are available on request
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Read it in the paper: doi.org/10.1038/s41525-026-00579-8.

Versions

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Version 1, 28 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 13 authors, 4 keywords, 2 funders, 47 references.

Cite

This paper

Berzal-Serrano, A., González-Alvaredo, S., Lesende, I., Carretero-Vilarroig, L., Jaijo, T., Onsurbe, I., Aragon-Gawinska, K., Ñungo-Garzón, N. C., Pitarch-Castellano, I., Vázquez-Costa, J. F., Aller, E., Millán, J. M., & García-García, G. (2026). Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification. NPJ genomic medicine, 11(1), 45. https://doi.org/10.1038/s41525-026-00579-8

BibTeX

@article{berzalserrano2026multimodal,
author = {Berzal-Serrano, Alba and González-Alvaredo, Sonia and Lesende, Iván and Carretero-Vilarroig, Lidón and Jaijo, Teresa and Onsurbe, Ignacio and Aragon-Gawinska, Karolina and Ñungo-Garzón, Nancy Carolina and Pitarch-Castellano, Inmaculada and Vázquez-Costa, Juan Francisco and Aller, Elena and Millán, José María and García-García, Gema},
title = {{Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification}},
journal = {NPJ genomic medicine},
year = {2026},
month = may,
volume = {11},
number = {1},
pages = {45},
publisher = {Nature Publishing Group},
issn = {2056-7944},
doi = {10.1038/s41525-026-00579-8},
url = {https://doi.org/10.1038/s41525-026-00579-8},
pmid = {42162012},
pmcid = {PMC13458669}
}

RIS

TY - JOUR
AU - Berzal-Serrano, Alba
AU - González-Alvaredo, Sonia
AU - Lesende, Iván
AU - Carretero-Vilarroig, Lidón
AU - Jaijo, Teresa
AU - Onsurbe, Ignacio
AU - Aragon-Gawinska, Karolina
AU - Ñungo-Garzón, Nancy Carolina
AU - Pitarch-Castellano, Inmaculada
AU - Vázquez-Costa, Juan Francisco
AU - Aller, Elena
AU - Millán, José María
AU - García-García, Gema
TI - Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification
T2 - NPJ genomic medicine
J2 - NPJ Genom Med
PY - 2026
DA - 2026/05/20
VL - 11
IS - 1
SP - 45
SN - 2056-7944
PB - Nature Publishing Group
DO - 10.1038/s41525-026-00579-8
UR - https://doi.org/10.1038/s41525-026-00579-8
LA - en
ER -

CSL-JSON

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"ISSN": "2056-7944",
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"language": "en",
"issued": {
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