Florence Fellmann

Affiliations

The ColLaboratory, University of Lausanne, Lausanne, Switzerland.

Publications (8)

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

European journal of human genetics : EJHG

Avec: Guido de Wert , Wybo Dondorp , Angus Clarke , Elisabeth M C Dequeker , Christophe Cordier , Zandra Deans , Carla G van El , Ros Hastings , Sabine Hentze , Heidi Howard , Milan Macek , Alvaro Mendes , Chris Patch , Emmanuelle Rial-Sebbag , Vigdis Stefansdottir , Martina C Cornel , Francesca Forzano , Auteur inconnu

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Human mutation

Avec: Hui Liu , Anna-Gaëlle Giguet-Valard , Thomas Simonet , Emmanuelle Szenker-Ravi , Laetitia Lambert , Catherine Vincent-Delorme , Sophie Scheidecker , Mélanie Fradin , Fanny Morice-Picard , Sophie Naudion , Viorica Ciorna-Monferrato , Estelle Colin , Sophie Blesson , Pierre-Simon Jouk , Christine Francannet , Florence Petit , Sébastien Moutton , Daphné Lehalle , Nicolas Chassaing , Loubna El Zein , Anne Bazin , Claire Bénéteau , Tania Attié-Bitach , Sylvie M Hanu , Marie-Pierre Brechard , Jean Chiesa , Laurent Pasquier , Caroline Rooryck-Thambo , Lionel Van Maldergem , Christelle Cabrol , Salima El Chehadeh , Alexandre Vasiljevic , Bertrand Isidor , Carine Abel , Julien Thevenon , Sylvie Di Filippo , Adeline Vigouroux-Castera , Jocelyne Attia , Chloé Quelin , Sylvie Odent , Juliette Piard , Fabienne Giuliano , Audrey Putoux , Philippe Khau Van Kien , Catherine Yardin , Renaud Touraine , Bruno Reversade , Patrice Bouvagnet

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.

JCI insight

Avec: Carol Saunders , Marie-Françoise O'Donohue , David W Reid , Kelsey A McFadden , Nathalie Montel-Lehry , Cong Yu , Mingyan Fang , Jianguo Zhang , Beryl Royer-Bertrand , Pietro Farinelli , Narjesse Karboul , Jason R Willer , Lorraine Fievet , Zahurul Alam Bhuiyan , Alissa Lw Kleinhenz , Julie Jadeau , Joy Fulbright , Carlo Rivolta , Raffaele Renella , Nicholas Katsanis , Jacques S Beckmann , Christopher V Nicchitta , Lydie Da Costa , Erica E Davis , Pierre-Emmanuel Gleizes

Herpes simplex encephalitis in adult patients with MASP-2 deficiency.

PLoS pathogens

Avec: Stéphanie Bibert , Jocelyne Piret , Mathieu Quinodoz , Emilie Collinet , Vincent Zoete , Olivier Michielin , Rafik Menasria , Pascal Meylan , Titus Bihl , Véronique Erard , Carlo Rivolta , Guy Boivin , Pierre-Yves Bochud

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

European journal of human genetics : EJHG

Avec: Carla G van El , Philippe Charron , Katarzyna Michaud , Heidi C Howard , Sarah N Boers , Angus J Clarke , Anne-Marie Duguet , Francesca Forzano , Silke Kauferstein , Hülya Kayserili , Anneke Lucassen , Álvaro Mendes , Christine Patch , Dragica Radojkovic , Emmanuelle Rial-Sebbag , Mary N Sheppard , Anne-Marie Tassé , Sehime G Temel , Antti Sajantila , Cristina Basso , Arthur A M Wilde , Martina C Cornel , Auteur inconnu

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

Nature communications

Avec: Stéphanie Bibert , Mathieu Quinodoz , Sylvain Perriot , Fanny S Krebs , Maxime Jan , Rita C Malta , Emilie Collinet , Mathieu Canales , Amandine Mathias , Nicole Faignart , Eliane Roulet-Perez , Pascal Meylan , René Brouillet , Onya Opota , Leyder Lozano-Calderon , Nicolas Guex , Vincent Zoete , Sandra Asner , Carlo Rivolta , Renaud Du Pasquier , Pierre-Yves Bochud

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.

Nature communications

Avec: Endika Haro , Florence Petit , Charmaine U Pira , Conor D Spady , Sara Lucas-Toca , Lauren I Yorozuya , Austin L Gray , Fabienne Escande , Anne-Sophie Jourdain , Andy Nguyen , Jean-Marc Good , Christine Francannet , Sylvie Manouvrier-Hanu , Marian A Ros , Kerby C Oberg

Implication of folate deficiency in CYP2U1 loss of function.

The Journal of experimental medicine

Avec: Claire Pujol , Anne Legrand , Livia Parodi , Priscilla Thomas , Fanny Mochel , Dario Saracino , Giulia Coarelli , Marijana Croon , Milica Popovic , Manon Valet , Nicolas Villain , Shahira Elshafie , Mahmoud Issa , Stephane Zuily , Mathilde Renaud , Cécilia Marelli-Tosi , Marine Legendre , Aurélien Trimouille , Isabelle Kemlin , Sophie Mathieu , Joseph G Gleeson , Foudil Lamari , Daniele Galatolo , Rana Alkouri , Chantal Tse , Diana Rodriguez , Claire Ewenczyk , Thierry Kuntzer , Emilie Blond , Khalid H El Hachimi , Frédéric Darios , Alexandre Seyer , Anastasia D Gazi , Patrick Giavalisco , Silvina Perin , Jean-Luc Boucher , Laurent Le Corre , Filippo M Santorelli , Cyril Goizet , Maha S Zaki , Serge Picaud , Arnaud Mourier , Sophie Marie Steculorum , Cyril Mignot , Alexandra Durr , Aleksandra Trifunovic , Giovanni Stevanin

Réseau de co-auteurs

Carlo Rivolta 3 collaborations

Carla G van El 2 collaborations

Emmanuelle Rial-Sebbag 2 collaborations

Martina C Cornel 2 collaborations

Francesca Forzano 2 collaborations

None None 2 collaborations

Christine Francannet 2 collaborations

Florence Petit 2 collaborations

Stéphanie Bibert 2 collaborations

Mathieu Quinodoz 2 collaborations

Emilie Collinet 2 collaborations

Vincent Zoete 2 collaborations

Pascal Meylan 2 collaborations

Pierre-Yves Bochud 2 collaborations

Guido de Wert 1 collaboration

Wybo Dondorp 1 collaboration

Angus Clarke 1 collaboration

Elisabeth M C Dequeker 1 collaboration

Christophe Cordier 1 collaboration

Zandra Deans 1 collaboration

Ros Hastings 1 collaboration

Sabine Hentze 1 collaboration

Heidi Howard 1 collaboration

Milan Macek 1 collaboration

Alvaro Mendes 1 collaboration

Chris Patch 1 collaboration

Vigdis Stefansdottir 1 collaboration

Hui Liu 1 collaboration

Anna-Gaëlle Giguet-Valard 1 collaboration

Thomas Simonet 1 collaboration

Emmanuelle Szenker-Ravi 1 collaboration

Laetitia Lambert 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Sophie Scheidecker 1 collaboration

Mélanie Fradin 1 collaboration

Fanny Morice-Picard 1 collaboration

Sophie Naudion 1 collaboration

Viorica Ciorna-Monferrato 1 collaboration

Estelle Colin 1 collaboration

Sophie Blesson 1 collaboration

Pierre-Simon Jouk 1 collaboration

Sébastien Moutton 1 collaboration

Daphné Lehalle 1 collaboration

Nicolas Chassaing 1 collaboration

Loubna El Zein 1 collaboration

Anne Bazin 1 collaboration

Claire Bénéteau 1 collaboration

Tania Attié-Bitach 1 collaboration

Sylvie M Hanu 1 collaboration

Marie-Pierre Brechard 1 collaboration

Jean Chiesa 1 collaboration

Laurent Pasquier 1 collaboration

Caroline Rooryck-Thambo 1 collaboration

Lionel Van Maldergem 1 collaboration

Christelle Cabrol 1 collaboration

Salima El Chehadeh 1 collaboration

Alexandre Vasiljevic 1 collaboration

Bertrand Isidor 1 collaboration

Carine Abel 1 collaboration

Julien Thevenon 1 collaboration

Sylvie Di Filippo 1 collaboration

Adeline Vigouroux-Castera 1 collaboration

Jocelyne Attia 1 collaboration

Chloé Quelin 1 collaboration

Sylvie Odent 1 collaboration

Juliette Piard 1 collaboration

Fabienne Giuliano 1 collaboration

Audrey Putoux 1 collaboration

Philippe Khau Van Kien 1 collaboration

Catherine Yardin 1 collaboration

Renaud Touraine 1 collaboration

Bruno Reversade 1 collaboration

Patrice Bouvagnet 1 collaboration

Carol Saunders 1 collaboration

Marie-Françoise O'Donohue 1 collaboration

David W Reid 1 collaboration

Kelsey A McFadden 1 collaboration

Nathalie Montel-Lehry 1 collaboration

Cong Yu 1 collaboration

Mingyan Fang 1 collaboration

Jianguo Zhang 1 collaboration

Beryl Royer-Bertrand 1 collaboration

Pietro Farinelli 1 collaboration

Narjesse Karboul 1 collaboration

Jason R Willer 1 collaboration

Lorraine Fievet 1 collaboration

Zahurul Alam Bhuiyan 1 collaboration

Alissa Lw Kleinhenz 1 collaboration

Julie Jadeau 1 collaboration

Joy Fulbright 1 collaboration

Raffaele Renella 1 collaboration

Nicholas Katsanis 1 collaboration

Jacques S Beckmann 1 collaboration

Christopher V Nicchitta 1 collaboration

Lydie Da Costa 1 collaboration

Erica E Davis 1 collaboration

Pierre-Emmanuel Gleizes 1 collaboration

Jocelyne Piret 1 collaboration

Olivier Michielin 1 collaboration

Rafik Menasria 1 collaboration

Titus Bihl 1 collaboration

Véronique Erard 1 collaboration

Guy Boivin 1 collaboration

Philippe Charron 1 collaboration

Katarzyna Michaud 1 collaboration

Heidi C Howard 1 collaboration

Sarah N Boers 1 collaboration

Angus J Clarke 1 collaboration

Anne-Marie Duguet 1 collaboration

Silke Kauferstein 1 collaboration

Hülya Kayserili 1 collaboration

Anneke Lucassen 1 collaboration

Álvaro Mendes 1 collaboration

Christine Patch 1 collaboration

Dragica Radojkovic 1 collaboration

Mary N Sheppard 1 collaboration

Anne-Marie Tassé 1 collaboration

Sehime G Temel 1 collaboration

Antti Sajantila 1 collaboration

Cristina Basso 1 collaboration

Arthur A M Wilde 1 collaboration

Sylvain Perriot 1 collaboration

Fanny S Krebs 1 collaboration

Maxime Jan 1 collaboration

Rita C Malta 1 collaboration

Mathieu Canales 1 collaboration

Amandine Mathias 1 collaboration

Nicole Faignart 1 collaboration

Eliane Roulet-Perez 1 collaboration

René Brouillet 1 collaboration

Onya Opota 1 collaboration

Leyder Lozano-Calderon 1 collaboration

Nicolas Guex 1 collaboration

Sandra Asner 1 collaboration

Renaud Du Pasquier 1 collaboration

Endika Haro 1 collaboration

Charmaine U Pira 1 collaboration

Conor D Spady 1 collaboration

Sara Lucas-Toca 1 collaboration

Lauren I Yorozuya 1 collaboration

Austin L Gray 1 collaboration

Fabienne Escande 1 collaboration

Anne-Sophie Jourdain 1 collaboration

Andy Nguyen 1 collaboration

Jean-Marc Good 1 collaboration

Sylvie Manouvrier-Hanu 1 collaboration

Marian A Ros 1 collaboration

Kerby C Oberg 1 collaboration

Claire Pujol 1 collaboration

Anne Legrand 1 collaboration

Livia Parodi 1 collaboration

Priscilla Thomas 1 collaboration

Fanny Mochel 1 collaboration

Dario Saracino 1 collaboration

Giulia Coarelli 1 collaboration

Marijana Croon 1 collaboration

Milica Popovic 1 collaboration

Manon Valet 1 collaboration

Nicolas Villain 1 collaboration

Shahira Elshafie 1 collaboration

Mahmoud Issa 1 collaboration

Stephane Zuily 1 collaboration

Mathilde Renaud 1 collaboration

Cécilia Marelli-Tosi 1 collaboration

Marine Legendre 1 collaboration

Aurélien Trimouille 1 collaboration

Isabelle Kemlin 1 collaboration

Sophie Mathieu 1 collaboration

Joseph G Gleeson 1 collaboration

Foudil Lamari 1 collaboration

Daniele Galatolo 1 collaboration

Rana Alkouri 1 collaboration

Chantal Tse 1 collaboration

Diana Rodriguez 1 collaboration

Claire Ewenczyk 1 collaboration

Thierry Kuntzer 1 collaboration

Emilie Blond 1 collaboration

Khalid H El Hachimi 1 collaboration

Frédéric Darios 1 collaboration

Alexandre Seyer 1 collaboration

Anastasia D Gazi 1 collaboration

Patrick Giavalisco 1 collaboration

Silvina Perin 1 collaboration

Jean-Luc Boucher 1 collaboration

Laurent Le Corre 1 collaboration

Filippo M Santorelli 1 collaboration

Cyril Goizet 1 collaboration

Maha S Zaki 1 collaboration

Serge Picaud 1 collaboration

Arnaud Mourier 1 collaboration

Sophie Marie Steculorum 1 collaboration

Cyril Mignot 1 collaboration

Alexandra Durr 1 collaboration

Aleksandra Trifunovic 1 collaboration

Giovanni Stevanin 1 collaboration