Concepedia

Author

Luisa Marsili

InsermORCID

Also Known As

Anne Dieux, Cindy Colson, L Ghesquiere, L Marsili, L. Marsili, Lenee Marsili, Luisa Marsili, Marsili, Luisa, P Ludman, S Gautier

37

Publications

283

Citations

10

H-Index

19

Concepts

All Affiliations

InsermUniversité Paris CitéAssistance Publique – Hôpitaux de ParisUniversité Claude Bernard Lyon 1Centre Hospitalier Universitaire de Lille
LM

About

Luisa Marsili is an author at Inserm specializing in medicine, pathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

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72

2

Public Health

1

1

57

3

Epidemiology

1

1

57

4

Neurology

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1

15

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Neuroscience

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15

Luisa Marsili

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7

Publications

159

Citations

7

H-Index

YearCitations

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,

Human Mutation

2018

57

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,

Clinical Genetics

2020

23

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

Thomas Husson, François Lecoquierre, Gaël Nicolas,

European Journal of Human Genetics

2023

23

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,

Clinical and Experimental Rheumatology

2022

20

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,

The Neuroradiology Journal

2015

15

Prevalence and phenotypes associated with <i>ALPK3</i> null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy

Flavie Ader, Guillaume Jedraszak, Alexandre Janin,

Clinical Genetics

2024

11

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Maude Grelet, Véronique Blanck, Sabine Sigaudy,

Orphanet Journal of Rare Diseases

2019

10

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