Luisa Marsili

5PUBLICATIONS
85CO-AUTHORS
Infant and child healthMedical mycologyNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Gene mapping
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Publications (5)

|Aug 14, 2026
Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

|Dec 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Fatima Rahman, Luisa Marsili, Domizia Pasquetti

|Oct 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Thomas Husson, François Lecoquierre, Gaël Nicolas

|Dec 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Edgar T Hoorntje, Charlotte Burns, Luisa Marsili

|Jan 04, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Luisa Marsili, Eline Overwater, Nadine Hanna

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Frequent Collaborators

1 joint publications

Clemence Vanlerberghe

1 joint publications

Pauline Arnaud

1 joint publications

Victoria N Parikh

1 joint publications

Gerard J Te Meerman