Anna Pelet

Affiliations

Département de Génétique, Unité Inserm U781, Institut Imagine, Hôpital Necker enfants Malades, CLAD Ile de France, Paris, France.

Publications (6)

Growth charts in Kabuki syndrome 1.

American journal of medical genetics. Part A

Avec: Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , Mario Abaji , Yves Alembick , Eudeline Alix , Jeanne Amiel , Cyril Amouroux , Mouna Barat-Houari , Clarisse Baumann , Adeline Bonnard , Guilaine Boursier , Odile Boute , Lydie Burglen , Tiffany Busa , Marie-Pierre Cordier , Valérie Cormier-Daire , Marie-Ange Delrue , Bérénice Doray , Laurence Faivre , Mélanie Fradin , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Alice Goldenberg , Svetlana Gorokhova , Delphine Héron , Bertrand Isidor , Marie-Line Jacquemont , Aurélia Jacquette , Claire Jeandel , Didier Lacombe , Martine Le Merrer , Kim Hanh Le Quan Sang , Stanislas Lyonnet , Sylvie Manouvrier , Caroline Michot , Anne Moncla , Sébastien Moutton , Sylvie Odent , Anna Pelet , Nicole Philip , Lucile Pinson , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

The Journal of clinical investigation

Avec: Thuy-Linh Le , Louise Galmiche , Jonathan Levy , Pim Suwannarat , Debby Mei Hellebrekers , Khomgrit Morarach , Franck Boismoreau , Tom Ej Theunissen , Mathilde Lefebvre , Anna Pelet , Jelena Martinovic , Antoinette Gelot , Fabien Guimiot , Amanda Calleroz , Cyril Gitiaux , Marie Hully , Olivier Goulet , Christophe Chardot , Severine Drunat , Yline Capri , Christine Bole-Feysot , Patrick Nitschké , Sandra Whalen , Linda Mouthon , Holly E Babcock , Robert Hofstra , Irenaeus Fm de Coo , Anne-Claude Tabet , Thierry J Molina , Boris Keren , Alice Brooks , Hubert Jm Smeets , Ulrika Marklund , Christopher T Gordon , Stanislas Lyonnet , Jeanne Amiel , Nadège Bondurand

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Human molecular genetics

Avec: Anna Pelet , Vaclava Skopova , Ulrike Steuerwald , Veronika Baresova , Mohammed Zarhrate , Jean-Marc Plaza , Ales Hnizda , Matyas Krijt , Olga Souckova , Flemming Wibrand , Guðrið Andorsdóttir , Fróði Joensen , David Sedlak , Anthony J Bleyer , Stanislav Kmoch , Stanislas Lyonnet , Marie Zikanova

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

American journal of human genetics

Avec: Sadegheh Haghshenas , Karim Karimi , Roger E Stevenson , Michael A Levy , Raissa Relator , Jennifer Kerkhof , Jessica Rzasa , Haley McConkey , Carolyn Lauzon-Young , Tugce B Balci , Alexandre M White-Brown , Melissa T Carter , Julie Richer , Christine M Armour , Sarah L Sawyer , Priya T Bhola , Matthew L Tedder , Cindy D Skinner , Iris A L M van Rooij , Romy van de Putte , Ivo de Blaauw , Rebekka M Koeck , Alexander Hoischen , Han Brunner , Masoud Zamani Esteki , Anna Pelet , Stanislas Lyonnet , Jeanne Amiel , Kym M Boycott , Bekim Sadikovic

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

American journal of human genetics

Avec: Thuy-Linh Le , Yunia Sribudiani , Xiaomin Dong , Céline Huber , Chelsea Kois , Geneviève Baujat , Christopher T Gordon , Valerie Mayne , Louise Galmiche , Valérie Serre , Nicolas Goudin , Mohammed Zarhrate , Christine Bole-Feysot , Cécile Masson , Patrick Nitschké , Frans W Verheijen , Lynn Pais , Anna Pelet , Simon Sadedin , John A Pugh , Natasha Shur , Susan M White , Salima El Chehadeh , John Christodoulou , Valérie Cormier-Daire , R M W Hofstra , Stanislas Lyonnet , Tiong Yang Tan , Tania Attié-Bitach , Wilhelmina S Kerstjens-Frederikse , Jeanne Amiel , Sophie Thomas

[Anticoagulant and bone fragility: which implications for clinical practice?]

Revue medicale suisse

Avec: Anne Pelet , Olivier Lamy

Réseau de co-auteurs

Stanislas Lyonnet 5 collaborations

Jeanne Amiel 4 collaborations

Valérie Cormier-Daire 2 collaborations

Thuy-Linh Le 2 collaborations

Louise Galmiche 2 collaborations

Christine Bole-Feysot 2 collaborations

Patrick Nitschké 2 collaborations

Christopher T Gordon 2 collaborations

Mohammed Zarhrate 2 collaborations

Valentin Ruault 1 collaboration

Carole Corsini 1 collaboration

Claire Duflos 1 collaboration

Sandrine Akouete 1 collaboration

Véra Georgescu 1 collaboration

Mario Abaji 1 collaboration

Yves Alembick 1 collaboration

Eudeline Alix 1 collaboration

Cyril Amouroux 1 collaboration

Mouna Barat-Houari 1 collaboration

Clarisse Baumann 1 collaboration

Adeline Bonnard 1 collaboration

Guilaine Boursier 1 collaboration

Odile Boute 1 collaboration

Lydie Burglen 1 collaboration

Tiffany Busa 1 collaboration

Marie-Pierre Cordier 1 collaboration

Marie-Ange Delrue 1 collaboration

Bérénice Doray 1 collaboration

Laurence Faivre 1 collaboration

Mélanie Fradin 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Fabienne Giuliano 1 collaboration

Alice Goldenberg 1 collaboration

Svetlana Gorokhova 1 collaboration

Delphine Héron 1 collaboration

Bertrand Isidor 1 collaboration

Marie-Line Jacquemont 1 collaboration

Aurélia Jacquette 1 collaboration

Claire Jeandel 1 collaboration

Didier Lacombe 1 collaboration

Martine Le Merrer 1 collaboration

Kim Hanh Le Quan Sang 1 collaboration

Sylvie Manouvrier 1 collaboration

Caroline Michot 1 collaboration

Anne Moncla 1 collaboration

Sébastien Moutton 1 collaboration

Sylvie Odent 1 collaboration

Nicole Philip 1 collaboration

Lucile Pinson 1 collaboration

Julie Reversat 1 collaboration

Joëlle Roume 1 collaboration

Elodie Sanchez 1 collaboration

Damien Sanlaville 1 collaboration

Pierre Sarda 1 collaboration

Elise Schaefer 1 collaboration

Marianne Till 1 collaboration

Isabelle Touitou 1 collaboration

Annick Toutain 1 collaboration

Marjolaine Willems 1 collaboration

Vincent Gatinois 1 collaboration

David Geneviève 1 collaboration

Jonathan Levy 1 collaboration

Pim Suwannarat 1 collaboration

Debby Mei Hellebrekers 1 collaboration

Khomgrit Morarach 1 collaboration

Franck Boismoreau 1 collaboration

Tom Ej Theunissen 1 collaboration

Mathilde Lefebvre 1 collaboration

Jelena Martinovic 1 collaboration

Antoinette Gelot 1 collaboration

Fabien Guimiot 1 collaboration

Amanda Calleroz 1 collaboration

Cyril Gitiaux 1 collaboration

Marie Hully 1 collaboration

Olivier Goulet 1 collaboration

Christophe Chardot 1 collaboration

Severine Drunat 1 collaboration

Yline Capri 1 collaboration

Sandra Whalen 1 collaboration

Linda Mouthon 1 collaboration

Holly E Babcock 1 collaboration

Robert Hofstra 1 collaboration

Irenaeus Fm de Coo 1 collaboration

Anne-Claude Tabet 1 collaboration

Thierry J Molina 1 collaboration

Boris Keren 1 collaboration

Alice Brooks 1 collaboration

Hubert Jm Smeets 1 collaboration

Ulrika Marklund 1 collaboration

Nadège Bondurand 1 collaboration

Vaclava Skopova 1 collaboration

Ulrike Steuerwald 1 collaboration

Veronika Baresova 1 collaboration

Jean-Marc Plaza 1 collaboration

Ales Hnizda 1 collaboration

Matyas Krijt 1 collaboration

Olga Souckova 1 collaboration

Flemming Wibrand 1 collaboration

Guðrið Andorsdóttir 1 collaboration

Fróði Joensen 1 collaboration

David Sedlak 1 collaboration

Anthony J Bleyer 1 collaboration

Stanislav Kmoch 1 collaboration

Marie Zikanova 1 collaboration

Sadegheh Haghshenas 1 collaboration

Karim Karimi 1 collaboration

Roger E Stevenson 1 collaboration

Michael A Levy 1 collaboration

Raissa Relator 1 collaboration

Jennifer Kerkhof 1 collaboration

Jessica Rzasa 1 collaboration

Haley McConkey 1 collaboration

Carolyn Lauzon-Young 1 collaboration

Tugce B Balci 1 collaboration

Alexandre M White-Brown 1 collaboration

Melissa T Carter 1 collaboration

Julie Richer 1 collaboration

Christine M Armour 1 collaboration

Sarah L Sawyer 1 collaboration

Priya T Bhola 1 collaboration

Matthew L Tedder 1 collaboration

Cindy D Skinner 1 collaboration

Iris A L M van Rooij 1 collaboration

Romy van de Putte 1 collaboration

Ivo de Blaauw 1 collaboration

Rebekka M Koeck 1 collaboration

Alexander Hoischen 1 collaboration

Han Brunner 1 collaboration

Masoud Zamani Esteki 1 collaboration

Kym M Boycott 1 collaboration

Bekim Sadikovic 1 collaboration

Yunia Sribudiani 1 collaboration

Xiaomin Dong 1 collaboration

Céline Huber 1 collaboration

Chelsea Kois 1 collaboration

Geneviève Baujat 1 collaboration

Valerie Mayne 1 collaboration

Valérie Serre 1 collaboration

Nicolas Goudin 1 collaboration

Cécile Masson 1 collaboration

Frans W Verheijen 1 collaboration

Lynn Pais 1 collaboration

Simon Sadedin 1 collaboration

John A Pugh 1 collaboration

Natasha Shur 1 collaboration

Susan M White 1 collaboration

Salima El Chehadeh 1 collaboration

John Christodoulou 1 collaboration

R M W Hofstra 1 collaboration

Tiong Yang Tan 1 collaboration

Tania Attié-Bitach 1 collaboration

Wilhelmina S Kerstjens-Frederikse 1 collaboration

Sophie Thomas 1 collaboration

Anne Pelet 1 collaboration

Olivier Lamy 1 collaboration