Luisa Marsili
4PUBLICATIONS
74CO-AUTHORS
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Publications (4)
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|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
1 joint publications
Belinda Gray
1 joint publications
Richard D Bagnall
1 joint publications
Daniela Q C M Barge-Schaapveld
1 joint publications
Maarten P van den Berg
1 joint publications
Marianne Bootsma
1 joint publications
Laurens P Bosman
