Luisa Marsili

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Eline Overwater, Luisa Marsili, Marieke J.H. Baars et al. · Human Mutation · 2018 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson, François Lecoquierre, Gaël Nicolas et al. · European Journal of Human Genetics · 2023 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic spectrum of <i>TGFB3</i> disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

Luisa Marsili, Eline Overwater, Nadine Hanna et al. · Clinical Genetics · 2020 · 24 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Marlies Colman, Marco Castori, Lucia Micale et al. · Clinical and Experimental Rheumatology · 2022 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the <i>PDCD10</i> gene

Francesco Garaci, Luisa Marsili, Florence Riant et al. · The Neuroradiology Journal · 2015 · 15 citations · Full text

Life Sciences, Genetics, Neurology +17