Author

Goedele Malfroid

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alice Monticelli· 1 shared Alicia Alonso‐JiméneziD· 1 shared Biljana ErmanoskaiD· 1 shared German M. DemidoviD· 1 shared Jonathan BaetsiD· 1 shared Jonathan De WinteriD· 1 shared Katrien JanssensiD· 1 shared Liedewei Van de VondeliD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice Monticelli

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1 paper

Recent·Most cited

A Heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy

Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, Natacha Camacho, Tine Deconinck, Katrien Janssens, Goedele Malfroid, Alicia Alonso‐Jiménez, German M. Demidov, Steven Laurie, Willem De Ridder, Biljana Ermanoska, Vincent Timmerman, Jonathan Baets

This study identifies a heterozygous 9q34 deletion involving SPTAN1 as a cause of distal myopathy, showing age-dependent effects and highlighting CNV detection in exome sequencing for diagnosis.

European Journal of Human Genetics · Sep 25, 2025Peer-reviewedGenetic & Genomic Medicine