Luisa Marsili
Utrecht, UT, Netherlands
Last Updated: 09/26/2026
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Found 21 publications
Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.
Journal: Clinical genetics
Published: April 09, 2026
Breastfeeding During Maternal Nadolol Therapy for Long QT Syndrome: Five-Month Infant Follow-Up.
Journal: Pediatric cardiology
Published: October 22, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.
Journal: Pediatric cardiology
Published: August 02, 2025
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Journal: Pediatric nephrology (Berlin, Germany)
Published: February 20, 2025
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.
Journal: European journal of human genetics : EJHG
Published: July 12, 2024
Management and outcomes of pregnant women with cardiovascular diseases in a cardio-obstetric team.
Journal: Archives of cardiovascular diseases
Published: December 12, 2023
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Journal: Clinical genetics
Published: December 06, 2023
Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment.
Journal: The Journal of craniofacial surgery
Published: August 29, 2023
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Journal: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
Published: July 04, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Journal: European journal of human genetics : EJHG
Published: May 10, 2023
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Journal: Circulation. Genomic and precision medicine
Published: December 29, 2022
Obstetrical outcomes in cases of maternal heart disease with a risk of cardiac decompensation: A retrospective study since the establishment of a multidisciplinary consultation meeting "heart and pregnancy".
Journal: Journal of gynecology obstetrics and human reproduction
Published: October 09, 2022
Last Updated: 09/26/2026