Quantitative PCR technique for the identification of microrearrangements of the AZFc region

di Rozé, Virginie, Bresson, Jean Luc, Fellmann, Florence
Pubblicazione 2007

Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland

di Hofer, Fanny, Fellmann, Florence, Schläpfer, Jürg, Michaud, Katarzyna
Pubblicazione 2014

Patient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel

di Grilo, Liliana Sintra, Schläpfer, Jürg, Fellmann, Florence, Abriel, Hugues
Pubblicato in Ann Noninvasive Electrocardiol (2011)

A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

di Zemrani, Boutaina, Cachat, François, Bonny, Olivier, Giannoni, Eric, Durig, Jacques, Fellmann, Florence, Chehade, Hassib
Pubblicato in Eur J Med Res (2016)

ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy

di Good, Jean-Marc, Fellmann, Florence, Bhuiyan, Zahurul A., Rotman, Samuel, Pruvot, Etienne, Schläpfer, Jürg
Pubblicato in HeartRhythm Case Rep (2019)

Two new families with hereditary minimal change disease

di Chehade, Hassib, Cachat, Francois, Girardin, Eric, Rotman, Samuel, Correia, Antonio Jorge, Fellmann, Florence, Bonny, Olivier
Pubblicazione 2013

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

di van Rahden, Vanessa A., Fernandez-Vizarra, Erika, Alawi, Malik, Brand, Kristina, Fellmann, Florence, Horn, Denise, Zeviani, Massimo, Kutsche, Kerstin
Pubblicato in Am J Hum Genet (2015)

ESHG PPPC Comments on postmortem use of genetic data for research purposes

di Fellmann, Florence, Rial-Sebbag, Emmanuelle, Patch, Christine, Hentze, Sabine, Stefandottir, Vigdis, Mendes, Álvaro, van El, Carla G., Cornel, Martina C., Forzano, Francesca
Pubblicato in Eur J Hum Genet (2019)

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

di Teirlinck, Carolien H, Senni, Faïza, Malti, Rajae El, Majoor-Krakauer, Danielle, Fellmann, Florence, Millat, Gilles, André-Fouët, Xavier, Pernot, François, Stumpf, Michaël, Boutarin, Jean, Bouvagnet, Patrice
Pubblicazione 2012

16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridation (array CGH) in persistent pulmonary hypertension of the newborn

di Zufferey, Flore, Martinet, Danielle, Osterheld, Maria-Chiara, Niel-Bütschi, Florence, Giannoni, Eric, Besuchet, Schmutz Nathalie, Beckmann, Jacques S., Xia, Zhilian, Shaw-Smith, Charles, Stankiewicz, Pawel, Langston, Claire, Fellmann, Florence
Pubblicazione 2011

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

di Bibert, Stéphanie, Piret, Jocelyne, Quinodoz, Mathieu, Collinet, Emilie, Zoete, Vincent, Michielin, Olivier, Menasria, Rafik, Meylan, Pascal, Bihl, Titus, Erard, Véronique, Fellmann, Florence, Rivolta, Carlo, Boivin, Guy, Bochud, Pierre-Yves
Pubblicato in PLoS Pathog (2019)

Novel Calmodulin Mutations Associated with Congenital Long QT Syndrome Affect Calcium Current in Human Cardiomyocytes

di Pipilas, Daniel C., Johnson, Christopher N., Webster, Gregory, Schlaepfer, Jurg, Fellmann, Florence, Sekarski, Nicole, Wren, Lisa M., Ogorodnik, Kateryna V., Chazin, Daniel M., Chazin, Walter J., Crotti, Lia, Bhuiyan, Zahurul A., George, Alfred L.
Pubblicato in Heart Rhythm (2016)

Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics

di van El, Carla G, Cornel, Martina C, Borry, Pascal, Hastings, Ros J, Fellmann, Florence, Hodgson, Shirley V, Howard, Heidi C, Cambon-Thomsen, Anne, Knoppers, Bartha M, Meijers-Heijboer, Hanne, Scheffer, Hans, Tranebjaerg, Lisbeth, Dondorp, Wybo, de Wert, Guido MWR
Pubblicazione 2013

Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics

di van El, Carla G, Cornel, Martina C, Borry, Pascal, Hastings, Ros J, Fellmann, Florence, Hodgson, Shirley V, Howard, Heidi C, Cambon-Thomsen, Anne, Knoppers, Bartha M, Meijers-Heijboer, Hanne, Scheffer, Hans, Tranebjaerg, Lisbeth, Dondorp, Wybo, de Wert, Guido M W R
Pubblicazione 2013

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

di de Wert, Guido, Dondorp, Wybo, Clarke, Angus, Dequeker, Elisabeth M. C., Cordier, Christophe, Deans, Zandra, van El, Carla G., Fellmann, Florence, Hastings, Ros, Hentze, Sabine, Howard, Heidi, Macek, Milan, Mendes, Alvaro, Patch, Chris, Rial-Sebbag, Emmanuelle, Stefansdottir, Vigdis, Cornel, Martina C., Forzano, Francesca
Pubblicato in Eur J Hum Genet (2020)

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

di Severin, Franziska, Borry, Pascal, Cornel, Martina C, Daniels, Norman, Fellmann, Florence, Victoria Hodgson, Shirley, Howard, Heidi C, John, Jürgen, Kääriäinen, Helena, Kayserili, Hülya, Kent, Alastair, Koerber, Florian, Kristoffersson, Ulf, Kroese, Mark, Lewis, Celine, Marckmann, Georg, Meyer, Peter, Pfeufer, Arne, Schmidtke, Jörg, Skirton, Heather, Tranebjærg, Lisbeth, Rogowski, Wolf H
Pubblicato in Eur J Hum Genet (2015)

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

di Dondorp, Wybo, de Wert, Guido, Bombard, Yvonne, Bianchi, Diana W, Bergmann, Carsten, Borry, Pascal, Chitty, Lyn S, Fellmann, Florence, Forzano, Francesca, Hall, Alison, Henneman, Lidewij, Howard, Heidi C, Lucassen, Anneke, Ormond, Kelly, Peterlin, Borut, Radojkovic, Dragica, Rogowski, Wolf, Soller, Maria, Tibben, Aad, Tranebjærg, Lisbeth, van El, Carla G, Cornel, Martina C
Pubblicato in Eur J Hum Genet (2015)

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

di Dondorp, Wybo, de Wert, Guido, Bombard, Yvonne, Bianchi, Diana W, Bergmann, Carsten, Borry, Pascal, Chitty, Lyn S, Fellmann, Florence, Forzano, Francesca, Hall, Alison, Henneman, Lidewij, Howard, Heidi C, Lucassen, Anneke, Ormond, Kelly, Peterlin, Borut, Radojkovic, Dragica, Rogowski, Wolf, Soller, Maria, Tibben, Aad, Tranebjærg, Lisbeth, van El, Carla G, Cornel, Martina C
Pubblicato in Eur J Hum Genet (2015)

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

di Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J., Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Kayserili, Hülya, Lucassen, Anneke, Mendes, Álvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tassé, Anne-Marie, Temel, Sehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., Cornel, Martina C.
Pubblicato in Eur J Hum Genet (2019)

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

di Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme
Pubblicazione 2009