Author

Emilia Servián‐Morilla

Biomedical Research Networking Center on Neurodegenerative DiseasesORCID 0000-0002-6467-9740Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Arjun A. Rambhiya· 1 shared Beatriz Rodriguez-GonzaleziD· 1 shared Carmen ParadasiD· 1 shared Eloy RivasiD· 1 shared Emily C. OatesiD· 1 shared Fathimath Faiz· 1 shared Gavin MonahaniD· 1 shared Gianina RavenscroftiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperDevelopmental Biology

Arjun A. Rambhiya

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2 papers

Recent·Most cited

The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice

Soomin Cho, Emilia Servián‐Morilla, Victoria Navarro, Beatriz Rodriguez-Gonzalez, Youxi Yuan, Raquel Cano, Arjun A. Rambhiya, Radbod Darabi, Robert S. Haltiwanger, Carmen Paradas, Hamed Jafar‐Nejad

This study shows that POGLUT1 is essential for muscle stem cell development and maintenance in mice, with loss of function leading to muscle defects and impaired repair.

PLoS Genetics · Aug 18, 2025Peer-reviewedDevelopmental Biology

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

Lein Dofash, Gavin Monahan, Emilia Servián‐Morilla, Eloy Rivas, Fathimath Faiz, Patricia A. Sullivan, Emily C. Oates, Joshua S. Clayton, Rhonda L. Taylor, Mark R. Davis, Traude Helene Beilharz, Nigel G. Laing, Macarena Cabrera‐Serrano, Gianina Ravenscroft

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

Human Molecular Genetics · Nov 2, 2022Peer-reviewedGenetic & Genomic Medicine