FF
Florence Fellmann
Agence de la Biomédecine, University of Lausanne, Laboratoire National de Santé
Research areas: Medicine · Cardiology and Cardiovascular Medicine · Genomics and Rare Diseases · Cardiac electrophysiology and arrhythmias · Cardiomyopathy and Myosin Studies
0000-0003-3156-4768
Employment
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Agence de la biomédecine Référent DPN2020 - Present
- 2018 - Present
- 2017 - 2018
-
Centre Hospitalier Universitaire Vaudois Génétique Médecin associé2005 - 2017
- 1993 - 2005
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (86)
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics Save
- Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy. Save
- Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Save
- Identification of limb-specific Lmx1b auto-regulatory modules with Nail-Patella Syndrome pathogenicity Save
- Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Save
- Herpes simplex encephalitis in adult patients with MASP-2 deficiency. Save
- ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy. Save
- ESHG PPPC Comments on postmortem use of genetic data for research purposes. Save
- Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Save
- European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Save
- Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice. Save
- [Multidisciplinary cardiogenetic counselling]. Save
- [Patients with variations of sex development : an example of interdisciplinary care]. Save
- Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes. Save
- Pheochromocytoma Masked by Mutation in the TH Gene. Save
- A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. Save
- IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. Save
- Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Save
- Sudden cardiac death among general population and sport related population in forensic experience. Save
- Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach. Save