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

Tekijä Rozé, Virginie, Bresson, Jean Luc, Fellmann, Florence
Julkaistu 2007

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

Tekijä Hofer, Fanny, Fellmann, Florence, Schläpfer, Jürg, Michaud, Katarzyna
Julkaistu 2014

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

Tekijä Grilo, Liliana Sintra, Schläpfer, Jürg, Fellmann, Florence, Abriel, Hugues
Julkaisussa Ann Noninvasive Electrocardiol (2011)

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

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

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

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

Two new families with hereditary minimal change disease

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

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

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

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

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

Tekijä 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
Julkaistu 2012

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

Tekijä 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
Julkaistu 2011

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

Tekijä 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
Julkaisussa PLoS Pathog (2019)

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

Tekijä 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.
Julkaisussa Heart Rhythm (2016)

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

Tekijä 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
Julkaistu 2013

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

Tekijä 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
Julkaistu 2013

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

Tekijä 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
Julkaisussa Eur J Hum Genet (2020)

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

Tekijä 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
Julkaisussa Eur J Hum Genet (2015)

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

Tekijä 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
Julkaisussa Eur J Hum Genet (2015)

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

Tekijä 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
Julkaisussa Eur J Hum Genet (2015)

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

Tekijä 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.
Julkaisussa Eur J Hum Genet (2019)

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

Tekijä 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
Julkaistu 2009