Caroline Michot

Affiliations

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

Publications (11)

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clinical genetics

Avec: Varoona Bizaoui , Geneviève Baujat , Cyril Amouroux , Sabine Baron , Yline Capri , Martine Cohen-Solal , Corinne Collet , Anne Dieux , David Geneviève , Bertrand Isidor , Sophie Monnot , Massimiliano Rossi , Anya Rothenbuhler , Elise Schaefer , Valérie Cormier-Daire

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

American journal of medical genetics. Part A

Avec: Benjamin Dudoignon , Celine Huber , Federico Di Rocco , Muriel Girard , Stanislas Lyonnet , Marlène Rio , Smail Hadj Rabia , Valérie Cormier Daire , Geneviève Baujat

Sleep-disordered breathing in children with mucolipidosis.

American journal of medical genetics. Part A

Avec: Laurence Tabone , Catherine Caillaud , Alessandro Amaddeo , Sonia Khirani , Vincent Couloigner , Anais Brassier , Valerie Cormier-Daire , Geneviève Baujat , Brigitte Fauroux

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.

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

Avec: Pauline Marzin , Briac Thierry , Andrea Dancasius , Anne Cavau , Sophie Rondeau , Geneviève Baujat , Gilles Phan , Maryse Bonnière , Muriel Le Bourgeois , Diala Khraiche , Zagorka Pejin , Damien Bonnet , Christophe Delacourt , Valérie Cormier-Daire

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Orphanet journal of rare diseases

Avec: M Mouillé , M Rio , S Breton , M L Piketty , A Afenjar , J Amiel , Y Capri , A Goldenberg , C Francannet , C Michot , C Mignot , L Perrin , C Quelin , J Van Gils , G Barcia , V Pingault , G Maruani , E Koumakis , V Cormier-Daire

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

American journal of human genetics

Avec: Bobby G Ng , Paulina Sosicka , François Fenaille , Annie Harroche , Sandrine Vuillaumier-Barrot , Mindy Porterfield , Zhi-Jie Xia , Shannon Wagner , Michael J Bamshad , Marie-Christine Vergnes-Boiteux , Sophie Cholet , Stephen Dalton , Anne Dell , Thierry Dupré , Mathieu Fiore , Stuart M Haslam , Yohann Huguenin , Tadahiro Kumagai , Michael Kulik , Katherine McGoogan , Deborah A Nickerson , Tiffany Pascreau , Delphine Borgel , Kimiyo Raymond , Deepti Warad , Auteur inconnu , Heather Flanagan-Steet , Richard Steet , Michael Tiemeyer , Nathalie Seta , Arnaud Bruneel , Hudson H Freeze

Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Studies in health technology and informatics

Avec: Carole Faviez , Marc Vincent , Nicolas Garcelon , Genevieve Baujat , Valerie Cormier-Daire , Sophie Saunier , Xiaoyi Chen , Anita Burgun

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

European journal of human genetics : EJHG

Avec: Maria Lisa Dentici , Marcello Niceta , Francesca Romana Lepri , Cecilia Mancini , Manuela Priolo , Adeline Alice Bonnard , Camilla Cappelletti , Chiara Leoni , Andrea Ciolfi , Simone Pizzi , Viviana Cordeddu , Cesare Rossi , Marco Ferilli , Mafalda Mucciolo , Vito Luigi Colona , Christine Fauth , Melissa Bellini , Giacomo Biasucci , Lorenzo Sinibaldi , Silvana Briuglia , Andrea Gazzin , Diana Carli , Luigi Memo , Eva Trevisson , Concetta Schiavariello , Maria Luca , Antonio Novelli , Anne Sweertvaegher , David Germanaud , Emanuela Scarano , Alessandro De Luca , Giuseppe Zampino , Martin Zenker , Alessandro Mussa , Bruno Dallapiccola , Helene Cavé , Maria Cristina Digilio , Marco Tartaglia

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal of medical genetics

Avec: Hortense Thomas , Tom Alix , Émeline Renard , Mathilde Renaud , Justine Wourms , Stéphane Zuily , Bruno Leheup , David Geneviève , Natacha Dreumont , Emmanuelle Schmitt , Myriam Bronner , Marc Muller , Marion Divoux , Marion Wandzel , Jean-Marie Ravel , Mylène Dexheimer , Aurélie Becker , Virginie Roth , Marjolaine Willems , Christine Coubes , Gaëlle Vieville , Françoise Devillard , Élise Schaefer , Sarah Baer , Amélie Piton , Bénédicte Gérard , Marie Vincent , Mathilde Nizon , Benjamin Cogné , Lyse Ruaud , Nathalie Couque , Audrey Putoux , Patrick Edery , Gaëtan Lesca , Nicolas Chatron , Marianne Till , Laurence Faivre , Frédéric Tran-Mau-Them , Jean-Luc Alessandri , Marine Lebrun , Chloé Quélin , Sylvie Odent , Christèle Dubourg , Véronique David , Marie Faoucher , Cyril Mignot , Boris Keren , Élise Pisan , Alexandra Afenjar , Sophie Julia , Éric Bieth , Guillaume Banneau , Alice Goldenberg , Thomas Husson , Dominique Campion , François Lecoquierre , Gaël Nicolas , Camille Charbonnier , Anne De Saint Martin , Sophie Naudion , Manon Degoutin , Sophie Rondeau , Valérie Cormier-Daire , Abderrahim Oussalah , Carine Pourié , Laëtitia Lambert , Céline Bonnet

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Human mutation

Avec: Simon Boussion , Fabienne Escande , Anne-Sophie Jourdain , Thomas Smol , Perrine Brunelle , Céline Duhamel , Yves Alembik , Tania Attié-Bitach , Geneviève Baujat , Anne Bazin , Maryse Bonnière , Philippe Carassou , Dominique Carles , Louise Devisme , Cyril Goizet , Alice Goldenberg , Sarah Grotto , Agnès Guichet , Pierre-Simon Jouk , Laurence Loeuillet , Charlotte Mechler , Fanny Pelluard , Audrey Putoux , Sandra Whalen , Jamal Ghoumid , Sylvie Manouvrier-Hanu , Florence Petit

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Proceedings of the National Academy of Sciences of the United States of America

Avec: Deepak Khatri , Audrey Putoux , Audric Cologne , Sophie Kaltenbach , Alicia Besson , Eloïse Bertiaux , Justine Guguin , Adèle Fendler , Marie A Dupont , Clara Benoit-Pilven , Leila Qebibo , Samira Ahmed-Elie , Séverine Audebert-Bellanger , Pierre Blanc , Thomas Rambaud , Martin Castelle , Gaëlle Cornen , Sarah Grotto , Agnès Guët , Laurent Guibaud , Sylvie Odent , Lyse Ruaud , Elise Sacaze , Virginie Hamel , Rémy Bordonné , Anne-Louise Leutenegger , Patrick Edery , Lydie Burglen , Tania Attié-Bitach , Sylvie Mazoyer , Marion Delous

Réseau de co-auteurs

Geneviève Baujat 5 collaborations

Valérie Cormier-Daire 3 collaborations

Audrey Putoux 3 collaborations

David Geneviève 2 collaborations

Valerie Cormier-Daire 2 collaborations

Sophie Rondeau 2 collaborations

Maryse Bonnière 2 collaborations

Lyse Ruaud 2 collaborations

Patrick Edery 2 collaborations

Sylvie Odent 2 collaborations

Alice Goldenberg 2 collaborations

Tania Attié-Bitach 2 collaborations

Sarah Grotto 2 collaborations

Varoona Bizaoui 1 collaboration

Cyril Amouroux 1 collaboration

Sabine Baron 1 collaboration

Yline Capri 1 collaboration

Martine Cohen-Solal 1 collaboration

Corinne Collet 1 collaboration

Anne Dieux 1 collaboration

Bertrand Isidor 1 collaboration

Sophie Monnot 1 collaboration

Massimiliano Rossi 1 collaboration

Anya Rothenbuhler 1 collaboration

Elise Schaefer 1 collaboration

Benjamin Dudoignon 1 collaboration

Celine Huber 1 collaboration

Federico Di Rocco 1 collaboration

Muriel Girard 1 collaboration

Stanislas Lyonnet 1 collaboration

Marlène Rio 1 collaboration

Smail Hadj Rabia 1 collaboration

Valérie Cormier Daire 1 collaboration

Laurence Tabone 1 collaboration

Catherine Caillaud 1 collaboration

Alessandro Amaddeo 1 collaboration

Sonia Khirani 1 collaboration

Vincent Couloigner 1 collaboration

Anais Brassier 1 collaboration

Brigitte Fauroux 1 collaboration

Pauline Marzin 1 collaboration

Briac Thierry 1 collaboration

Andrea Dancasius 1 collaboration

Anne Cavau 1 collaboration

Gilles Phan 1 collaboration

Muriel Le Bourgeois 1 collaboration

Diala Khraiche 1 collaboration

Zagorka Pejin 1 collaboration

Damien Bonnet 1 collaboration

Christophe Delacourt 1 collaboration

M Mouillé 1 collaboration

M Rio 1 collaboration

S Breton 1 collaboration

M L Piketty 1 collaboration

A Afenjar 1 collaboration

J Amiel 1 collaboration

Y Capri 1 collaboration

A Goldenberg 1 collaboration

C Francannet 1 collaboration

C Michot 1 collaboration

C Mignot 1 collaboration

L Perrin 1 collaboration

C Quelin 1 collaboration

J Van Gils 1 collaboration

G Barcia 1 collaboration

V Pingault 1 collaboration

G Maruani 1 collaboration

E Koumakis 1 collaboration

V Cormier-Daire 1 collaboration

Bobby G Ng 1 collaboration

Paulina Sosicka 1 collaboration

François Fenaille 1 collaboration

Annie Harroche 1 collaboration

Sandrine Vuillaumier-Barrot 1 collaboration

Mindy Porterfield 1 collaboration

Zhi-Jie Xia 1 collaboration

Shannon Wagner 1 collaboration

Michael J Bamshad 1 collaboration

Marie-Christine Vergnes-Boiteux 1 collaboration

Sophie Cholet 1 collaboration

Stephen Dalton 1 collaboration

Anne Dell 1 collaboration

Thierry Dupré 1 collaboration

Mathieu Fiore 1 collaboration

Stuart M Haslam 1 collaboration

Yohann Huguenin 1 collaboration

Tadahiro Kumagai 1 collaboration

Michael Kulik 1 collaboration

Katherine McGoogan 1 collaboration

Deborah A Nickerson 1 collaboration

Tiffany Pascreau 1 collaboration

Delphine Borgel 1 collaboration

Kimiyo Raymond 1 collaboration

Deepti Warad 1 collaboration

None None 1 collaboration

Heather Flanagan-Steet 1 collaboration

Richard Steet 1 collaboration

Michael Tiemeyer 1 collaboration

Nathalie Seta 1 collaboration

Arnaud Bruneel 1 collaboration

Hudson H Freeze 1 collaboration

Carole Faviez 1 collaboration

Marc Vincent 1 collaboration

Nicolas Garcelon 1 collaboration

Genevieve Baujat 1 collaboration

Sophie Saunier 1 collaboration

Xiaoyi Chen 1 collaboration

Anita Burgun 1 collaboration

Maria Lisa Dentici 1 collaboration

Marcello Niceta 1 collaboration

Francesca Romana Lepri 1 collaboration

Cecilia Mancini 1 collaboration

Manuela Priolo 1 collaboration

Adeline Alice Bonnard 1 collaboration

Camilla Cappelletti 1 collaboration

Chiara Leoni 1 collaboration

Andrea Ciolfi 1 collaboration

Simone Pizzi 1 collaboration

Viviana Cordeddu 1 collaboration

Cesare Rossi 1 collaboration

Marco Ferilli 1 collaboration

Mafalda Mucciolo 1 collaboration

Vito Luigi Colona 1 collaboration

Christine Fauth 1 collaboration

Melissa Bellini 1 collaboration

Giacomo Biasucci 1 collaboration

Lorenzo Sinibaldi 1 collaboration

Silvana Briuglia 1 collaboration

Andrea Gazzin 1 collaboration

Diana Carli 1 collaboration

Luigi Memo 1 collaboration

Eva Trevisson 1 collaboration

Concetta Schiavariello 1 collaboration

Maria Luca 1 collaboration

Antonio Novelli 1 collaboration

Anne Sweertvaegher 1 collaboration

David Germanaud 1 collaboration

Emanuela Scarano 1 collaboration

Alessandro De Luca 1 collaboration

Giuseppe Zampino 1 collaboration

Martin Zenker 1 collaboration

Alessandro Mussa 1 collaboration

Bruno Dallapiccola 1 collaboration

Helene Cavé 1 collaboration

Maria Cristina Digilio 1 collaboration

Marco Tartaglia 1 collaboration

Hortense Thomas 1 collaboration

Tom Alix 1 collaboration

Émeline Renard 1 collaboration

Mathilde Renaud 1 collaboration

Justine Wourms 1 collaboration

Stéphane Zuily 1 collaboration

Bruno Leheup 1 collaboration

Natacha Dreumont 1 collaboration

Emmanuelle Schmitt 1 collaboration

Myriam Bronner 1 collaboration

Marc Muller 1 collaboration

Marion Divoux 1 collaboration

Marion Wandzel 1 collaboration

Jean-Marie Ravel 1 collaboration

Mylène Dexheimer 1 collaboration

Aurélie Becker 1 collaboration

Virginie Roth 1 collaboration

Marjolaine Willems 1 collaboration

Christine Coubes 1 collaboration

Gaëlle Vieville 1 collaboration

Françoise Devillard 1 collaboration

Élise Schaefer 1 collaboration

Sarah Baer 1 collaboration

Amélie Piton 1 collaboration

Bénédicte Gérard 1 collaboration

Marie Vincent 1 collaboration

Mathilde Nizon 1 collaboration

Benjamin Cogné 1 collaboration

Nathalie Couque 1 collaboration

Gaëtan Lesca 1 collaboration

Nicolas Chatron 1 collaboration

Marianne Till 1 collaboration

Laurence Faivre 1 collaboration

Frédéric Tran-Mau-Them 1 collaboration

Jean-Luc Alessandri 1 collaboration

Marine Lebrun 1 collaboration

Chloé Quélin 1 collaboration

Christèle Dubourg 1 collaboration

Véronique David 1 collaboration

Marie Faoucher 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Élise Pisan 1 collaboration

Alexandra Afenjar 1 collaboration

Sophie Julia 1 collaboration

Éric Bieth 1 collaboration

Guillaume Banneau 1 collaboration

Thomas Husson 1 collaboration

Dominique Campion 1 collaboration

François Lecoquierre 1 collaboration

Gaël Nicolas 1 collaboration

Camille Charbonnier 1 collaboration

Anne De Saint Martin 1 collaboration

Sophie Naudion 1 collaboration

Manon Degoutin 1 collaboration

Abderrahim Oussalah 1 collaboration

Carine Pourié 1 collaboration

Laëtitia Lambert 1 collaboration

Céline Bonnet 1 collaboration

Simon Boussion 1 collaboration

Fabienne Escande 1 collaboration

Anne-Sophie Jourdain 1 collaboration

Thomas Smol 1 collaboration

Perrine Brunelle 1 collaboration

Céline Duhamel 1 collaboration

Yves Alembik 1 collaboration

Anne Bazin 1 collaboration

Philippe Carassou 1 collaboration

Dominique Carles 1 collaboration

Louise Devisme 1 collaboration

Cyril Goizet 1 collaboration

Agnès Guichet 1 collaboration

Pierre-Simon Jouk 1 collaboration

Laurence Loeuillet 1 collaboration

Charlotte Mechler 1 collaboration

Fanny Pelluard 1 collaboration

Sandra Whalen 1 collaboration

Jamal Ghoumid 1 collaboration

Sylvie Manouvrier-Hanu 1 collaboration

Florence Petit 1 collaboration

Deepak Khatri 1 collaboration

Audric Cologne 1 collaboration

Sophie Kaltenbach 1 collaboration

Alicia Besson 1 collaboration

Eloïse Bertiaux 1 collaboration

Justine Guguin 1 collaboration

Adèle Fendler 1 collaboration

Marie A Dupont 1 collaboration

Clara Benoit-Pilven 1 collaboration

Leila Qebibo 1 collaboration

Samira Ahmed-Elie 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Pierre Blanc 1 collaboration

Thomas Rambaud 1 collaboration

Martin Castelle 1 collaboration

Gaëlle Cornen 1 collaboration

Agnès Guët 1 collaboration

Laurent Guibaud 1 collaboration

Elise Sacaze 1 collaboration

Virginie Hamel 1 collaboration

Rémy Bordonné 1 collaboration

Anne-Louise Leutenegger 1 collaboration

Lydie Burglen 1 collaboration

Sylvie Mazoyer 1 collaboration

Marion Delous 1 collaboration