Florence Démurger
Centre hospitalier Bretagne Atlantique(FR)Institut Fresnel(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Lysosomal Storage Disorders Research
Most-Cited Works
- → Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies(2019)250 cited
- → New insights into genotype–phenotype correlation for GLI3 mutations(2014)121 cited
- → Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients(2017)107 cited
- → Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy(2019)98 cited
- → Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders(2019)82 cited
- → Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1(2014)67 cited
- → Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction(2021)54 cited
- → Karyotype is not dead (yet)!(2015)54 cited
- → De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay(2020)54 cited
- → Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder(2021)31 cited