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

par Rozé, Virginie, Bresson, Jean Luc, Fellmann, Florence
Publié 2007

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

par Hofer, Fanny, Fellmann, Florence, Schläpfer, Jürg, Michaud, Katarzyna
Publié 2014

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

par Grilo, Liliana Sintra, Schläpfer, Jürg, Fellmann, Florence, Abriel, Hugues
Publié dans Ann Noninvasive Electrocardiol (2011)

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

par Zemrani, Boutaina, Cachat, François, Bonny, Olivier, Giannoni, Eric, Durig, Jacques, Fellmann, Florence, Chehade, Hassib
Publié dans Eur J Med Res (2016)

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

par Good, Jean-Marc, Fellmann, Florence, Bhuiyan, Zahurul A., Rotman, Samuel, Pruvot, Etienne, Schläpfer, Jürg
Publié dans HeartRhythm Case Rep (2019)

Two new families with hereditary minimal change disease

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

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

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

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

par Fellmann, Florence, Rial-Sebbag, Emmanuelle, Patch, Christine, Hentze, Sabine, Stefandottir, Vigdis, Mendes, Álvaro, van El, Carla G., Cornel, Martina C., Forzano, Francesca
Publié dans 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

par 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
Publié 2012

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

par 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
Publié 2011

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

par 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
Publié dans PLoS Pathog (2019)

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

par 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.
Publié dans Heart Rhythm (2016)

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

par 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
Publié 2013

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

par 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
Publié 2013

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

par 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
Publié dans Eur J Hum Genet (2020)

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

par 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
Publié dans Eur J Hum Genet (2015)

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

par 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
Publié dans Eur J Hum Genet (2015)

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

par 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
Publié dans Eur J Hum Genet (2015)

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

par 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.
Publié dans Eur J Hum Genet (2019)

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

par 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
Publié 2009