Author

Goedele Malfroid

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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

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1 shared paperGenetic & Genomic Medicine

Alice Monticelli

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1 paper

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedSep 25, 2025

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

Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli…·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.

2 citations

humanwhole-exome sequencing

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