Heidi Fodstad

Affiliations

Service de Médecine Génétique, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

Publications (9)

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.

American journal of medical genetics. Part A

Avec: Ahmed El Mouatani , Géraldine Van Winckel , Khaoula Zaafrane-Khachnaoui , Sandra Whalen , Amale Achaiaa , Sophie Kaltenbach , Andrea Superti-Furga , Michel Vekemans , Heidi Fodstad , Fabienne Giuliano , Tania Attie-Bitach

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Journal of medical genetics

Avec: Marie-Anne Morren , Heidi Fodstad , Hilde Brems , Nicola Bedoni , Emmanuella Guenova , Martine Jacot-Guillarmod , Kanetee Busiah , Fabienne Giuliano , Michel Gilliet , Isis Atallah

Genotype-phenotype correlations in recessive titinopathies.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marco Savarese , Anna Vihola , Emily C Oates , Rita Barresi , Chiara Fiorillo , Giorgio Tasca , Manu Jokela , Anna Sarkozy , Sushan Luo , Jordi Díaz-Manera , Christoffer Ehrstedt , Ricardo Rojas-García , Amets Sáenz , Nuria Muelas , Fortunato Lonardo , Heidi Fodstad , Talha Qureshi , Mridul Johari , Salla Välipakka , Helena Luque , Philippe Petiot , Adolfo López de Munain , Marika Pane , Eugenio Mercuri , Annalaura Torella , Vincenzo Nigro , Guja Astrea , Filippo Maria Santorelli , Claudio Bruno , Thierry Kuntzer , Isabel Illa , Juan J Vílchez , Cedric Julien , Ana Ferreiro , Alessandro Malandrini , Chong-Bo Zhao , Olivera Casar-Borota , Mark Davis , Francesco Muntoni , Peter Hackman , Bjarne Udd

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Genes

Avec: Marzia Pollazzon , Stefano Giuseppe Caraffi , Silvia Faccioli , Simonetta Rosato , Heidi Fodstad , Belinda Campos-Xavier , Emanuele Soncini , Giuseppina Comitini , Daniele Frattini , Teresa Grimaldi , Maria Marinelli , Davide Martorana , Antonio Percesepe , Silvia Sassi , Carlo Fusco , Giancarlo Gargano , Andrea Superti-Furga , Livia Garavelli

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

Genes

Avec: Beryl Royer-Bertrand , Katarina Cisarova , Florence Niel-Butschi , Laureane Mittaz-Crettol , Heidi Fodstad , Andrea Superti-Furga

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

BMC neurology

Avec: Filipa Bastos , Mathieu Quinodoz , Marie-Claude Addor , Beryl Royer-Bertrand , Heidi Fodstad , Carlo Rivolta , Claudia Poloni , Andrea Superti-Furga , Eliane Roulet-Perez , Sebastien Lebon

Case Report: A Rare Truncating Variant of the

Frontiers in genetics

Avec: Gabriella Guzzo , Salima Sadallah , Heidi Fodstad , Jean-Pierre Venetz , Samuel Rotman , Daniel Teta , Thierry Gauthier , Giuseppe Pantaleo , Andrea Superti-Furga , Manuel Pascual

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

European journal of human genetics : EJHG

Avec: Mio Aerden , Anne-Sophie Denommé-Pichon , Dominique Bonneau , Ange-Line Bruel , Julian Delanne , Bénédicte Gérard , Benoît Mazel , Christophe Philippe , Lucile Pinson , Clément Prouteau , Audrey Putoux , Frédéric Tran Mau-Them , Éléonore Viora-Dupont , Antonio Vitobello , Alban Ziegler , Amélie Piton , Bertrand Isidor , Christine Francannet , Pierre-Yves Maillard , Sophie Julia , Anais Philippe , Elise Schaefer , Saskia Koene , Claudia Ruivenkamp , Mariette Hoffer , Eric Legius , Miel Theunis , Boris Keren , Julien Buratti , Perrine Charles , Thomas Courtin , Mala Misra-Isrie , Mieke van Haelst , Quinten Waisfisz , Dagmar Wieczorek , Ariane Schmetz , Theresia Herget , Fanny Kortüm , Jasmin Lisfeld , François-Guillaume Debray , Nuria C Bramswig , Isis Atallah , Heidi Fodstad , Guillaume Jouret , Berta Almoguera , Saoud Tahsin-Swafiri , Fernando Santos-Simarro , Maria Palomares-Bralo , Vanesa López-González , Maria Kibaek , Pernille M Tørring , Alessandra Renieri , Lucia Pia Bruno , Katrin Õunap , Monica Wojcik , Tzung-Chien Hsieh , Peter Krawitz , Hilde Van Esch

[Management of genetic renal disorders: local experience and importance of the network].

Revue medicale suisse

Avec: Olivier Bonny , Alexandre Ketterer , Sofia Hermida , Andrea Superti-Furga , Jean-Pierre Venetz , Hassib Chehade , Heidi Fodstad , Viviane Cina , Paloma Parvex , Ariane Paoloni-Giacobino , Sophie De Seigneux , Fadi Fakhouri

Réseau de co-auteurs

Andrea Superti-Furga 6 collaborations

Fabienne Giuliano 2 collaborations

Isis Atallah 2 collaborations

Beryl Royer-Bertrand 2 collaborations

Jean-Pierre Venetz 2 collaborations

Ahmed El Mouatani 1 collaboration

Géraldine Van Winckel 1 collaboration

Khaoula Zaafrane-Khachnaoui 1 collaboration

Sandra Whalen 1 collaboration

Amale Achaiaa 1 collaboration

Sophie Kaltenbach 1 collaboration

Michel Vekemans 1 collaboration

Tania Attie-Bitach 1 collaboration

Marie-Anne Morren 1 collaboration

Hilde Brems 1 collaboration

Nicola Bedoni 1 collaboration

Emmanuella Guenova 1 collaboration

Martine Jacot-Guillarmod 1 collaboration

Kanetee Busiah 1 collaboration

Michel Gilliet 1 collaboration

Marco Savarese 1 collaboration

Anna Vihola 1 collaboration

Emily C Oates 1 collaboration

Rita Barresi 1 collaboration

Chiara Fiorillo 1 collaboration

Giorgio Tasca 1 collaboration

Manu Jokela 1 collaboration

Anna Sarkozy 1 collaboration

Sushan Luo 1 collaboration

Jordi Díaz-Manera 1 collaboration

Christoffer Ehrstedt 1 collaboration

Ricardo Rojas-García 1 collaboration

Amets Sáenz 1 collaboration

Nuria Muelas 1 collaboration

Fortunato Lonardo 1 collaboration

Talha Qureshi 1 collaboration

Mridul Johari 1 collaboration

Salla Välipakka 1 collaboration

Helena Luque 1 collaboration

Philippe Petiot 1 collaboration

Adolfo López de Munain 1 collaboration

Marika Pane 1 collaboration

Eugenio Mercuri 1 collaboration

Annalaura Torella 1 collaboration

Vincenzo Nigro 1 collaboration

Guja Astrea 1 collaboration

Filippo Maria Santorelli 1 collaboration

Claudio Bruno 1 collaboration

Thierry Kuntzer 1 collaboration

Isabel Illa 1 collaboration

Juan J Vílchez 1 collaboration

Cedric Julien 1 collaboration

Ana Ferreiro 1 collaboration

Alessandro Malandrini 1 collaboration

Chong-Bo Zhao 1 collaboration

Olivera Casar-Borota 1 collaboration

Mark Davis 1 collaboration

Francesco Muntoni 1 collaboration

Peter Hackman 1 collaboration

Bjarne Udd 1 collaboration

Marzia Pollazzon 1 collaboration

Stefano Giuseppe Caraffi 1 collaboration

Silvia Faccioli 1 collaboration

Simonetta Rosato 1 collaboration

Belinda Campos-Xavier 1 collaboration

Emanuele Soncini 1 collaboration

Giuseppina Comitini 1 collaboration

Daniele Frattini 1 collaboration

Teresa Grimaldi 1 collaboration

Maria Marinelli 1 collaboration

Davide Martorana 1 collaboration

Antonio Percesepe 1 collaboration

Silvia Sassi 1 collaboration

Carlo Fusco 1 collaboration

Giancarlo Gargano 1 collaboration

Livia Garavelli 1 collaboration

Katarina Cisarova 1 collaboration

Florence Niel-Butschi 1 collaboration

Laureane Mittaz-Crettol 1 collaboration

Filipa Bastos 1 collaboration

Mathieu Quinodoz 1 collaboration

Marie-Claude Addor 1 collaboration

Carlo Rivolta 1 collaboration

Claudia Poloni 1 collaboration

Eliane Roulet-Perez 1 collaboration

Sebastien Lebon 1 collaboration

Gabriella Guzzo 1 collaboration

Salima Sadallah 1 collaboration

Samuel Rotman 1 collaboration

Daniel Teta 1 collaboration

Thierry Gauthier 1 collaboration

Giuseppe Pantaleo 1 collaboration

Manuel Pascual 1 collaboration

Mio Aerden 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Dominique Bonneau 1 collaboration

Ange-Line Bruel 1 collaboration

Julian Delanne 1 collaboration

Bénédicte Gérard 1 collaboration

Benoît Mazel 1 collaboration

Christophe Philippe 1 collaboration

Lucile Pinson 1 collaboration

Clément Prouteau 1 collaboration

Audrey Putoux 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Éléonore Viora-Dupont 1 collaboration

Antonio Vitobello 1 collaboration

Alban Ziegler 1 collaboration

Amélie Piton 1 collaboration

Bertrand Isidor 1 collaboration

Christine Francannet 1 collaboration

Pierre-Yves Maillard 1 collaboration

Sophie Julia 1 collaboration

Anais Philippe 1 collaboration

Elise Schaefer 1 collaboration

Saskia Koene 1 collaboration

Claudia Ruivenkamp 1 collaboration

Mariette Hoffer 1 collaboration

Eric Legius 1 collaboration

Miel Theunis 1 collaboration

Boris Keren 1 collaboration

Julien Buratti 1 collaboration

Perrine Charles 1 collaboration

Thomas Courtin 1 collaboration

Mala Misra-Isrie 1 collaboration

Mieke van Haelst 1 collaboration

Quinten Waisfisz 1 collaboration

Dagmar Wieczorek 1 collaboration

Ariane Schmetz 1 collaboration

Theresia Herget 1 collaboration

Fanny Kortüm 1 collaboration

Jasmin Lisfeld 1 collaboration

François-Guillaume Debray 1 collaboration

Nuria C Bramswig 1 collaboration

Guillaume Jouret 1 collaboration

Berta Almoguera 1 collaboration

Saoud Tahsin-Swafiri 1 collaboration

Fernando Santos-Simarro 1 collaboration

Maria Palomares-Bralo 1 collaboration

Vanesa López-González 1 collaboration

Maria Kibaek 1 collaboration

Pernille M Tørring 1 collaboration

Alessandra Renieri 1 collaboration

Lucia Pia Bruno 1 collaboration

Katrin Õunap 1 collaboration

Monica Wojcik 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Peter Krawitz 1 collaboration

Hilde Van Esch 1 collaboration

Olivier Bonny 1 collaboration

Alexandre Ketterer 1 collaboration

Sofia Hermida 1 collaboration

Hassib Chehade 1 collaboration

Viviane Cina 1 collaboration

Paloma Parvex 1 collaboration

Ariane Paoloni-Giacobino 1 collaboration

Sophie De Seigneux 1 collaboration

Fadi Fakhouri 1 collaboration