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

Por Rozé, Virginie, Bresson, Jean Luc, Fellmann, Florence
Publicado em 2007

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

Por Hofer, Fanny, Fellmann, Florence, Schläpfer, Jürg, Michaud, Katarzyna
Publicado em 2014

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

Por Grilo, Liliana Sintra, Schläpfer, Jürg, Fellmann, Florence, Abriel, Hugues
Publicado no Ann Noninvasive Electrocardiol (2011)

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

Por Zemrani, Boutaina, Cachat, François, Bonny, Olivier, Giannoni, Eric, Durig, Jacques, Fellmann, Florence, Chehade, Hassib
Publicado no Eur J Med Res (2016)

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

Por Good, Jean-Marc, Fellmann, Florence, Bhuiyan, Zahurul A., Rotman, Samuel, Pruvot, Etienne, Schläpfer, Jürg
Publicado no HeartRhythm Case Rep (2019)

Two new families with hereditary minimal change disease

Por Chehade, Hassib, Cachat, Francois, Girardin, Eric, Rotman, Samuel, Correia, Antonio Jorge, Fellmann, Florence, Bonny, Olivier
Publicado em 2013

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

Por van Rahden, Vanessa A., Fernandez-Vizarra, Erika, Alawi, Malik, Brand, Kristina, Fellmann, Florence, Horn, Denise, Zeviani, Massimo, Kutsche, Kerstin
Publicado no Am J Hum Genet (2015)

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

Por Fellmann, Florence, Rial-Sebbag, Emmanuelle, Patch, Christine, Hentze, Sabine, Stefandottir, Vigdis, Mendes, Álvaro, van El, Carla G., Cornel, Martina C., Forzano, Francesca
Publicado no 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

Por 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
Publicado em 2012

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

Por 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
Publicado em 2011

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

Por 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
Publicado no PLoS Pathog (2019)

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

Por 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.
Publicado no Heart Rhythm (2016)

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

Por 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
Publicado em 2013

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

Por 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
Publicado em 2013

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

Por 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
Publicado no Eur J Hum Genet (2020)

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

Por 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
Publicado no Eur J Hum Genet (2015)

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

Por 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
Publicado no Eur J Hum Genet (2015)

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

Por 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
Publicado no Eur J Hum Genet (2015)

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

Por 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.
Publicado no Eur J Hum Genet (2019)

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

Por 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
Publicado em 2009