Lucile Boutaud

Affiliations

Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Paris Descartes University, Imagine Institute, 75015, Paris, France.

Publications (17)

Cilia in hereditary cerebral anomalies.

Biology of the cell

Avec: Sophie Thomas , Lucile Boutaud , Madeline Louise Reilly , Alexandre Benmerah

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Clinical genetics

Avec: Leïla Ghesh , Marie Denis Musquer , Louise Devisme , Morgane Stichelbout , Lucile Boutaud , Nadia Elkhartoufi , Pascal Vaast , Odile Boute , Anne-Sophie Riteau , Claudine Le Vaillant , Norbert Winer , Madeleine Joubert , Stéphane Bezieau , Sophie Thomas , Tania Attie-Bitach , Claire Beneteau

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.

Birth defects research

Avec: Lyse Ruaud , Nathalie Roux , Lucile Boutaud , Bettina Bessières , Faustine Ageorges , Amale Achaiaa , Christine Bole , Patrick Nitschke , Cécile Masson , Michel Vekemans , Alain Verloes , Tania Attie-Bitach

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Frontiers in pediatrics

Avec: Quentin Hennocq , Thomas Bongibault , Sandrine Marlin , Jeanne Amiel , Tania Attie-Bitach , Geneviève Baujat , Lucile Boutaud , Georges Carpentier , Pierre Corre , Françoise Denoyelle , François Djate Delbrah , Maxime Douillet , Eva Galliani , Wuttichart Kamolvisit , Stanislas Lyonnet , Dan Milea , Véronique Pingault , Thantrira Porntaveetus , Sandrine Touzet-Roumazeille , Marjolaine Willems , Arnaud Picard , Marlène Rio , Nicolas Garcelon , Roman H Khonsari

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Clinical genetics

Avec: Clarisse Billon , Arnaud Molin , Céline Poirsier , Alix Clemenson , Coralie Dauge , Maude Grelet , Sabine Sigaudy , Sophie Patrier , Alice Goldenberg , Valérie Layet , Julia Tantau , Clémence Fleury , Agnès Liard , Alain Diguet , Radia Fritih , Eric Verspyck , John Rendu , Lucile Boutaud , Aude Tessier , Sophie Thomas , Ferechté Razavi , Amale Achaiaa , Nadia Elkhartoufi , Leila Hakkakian , Eglantine Magnin , Christine Bôle-Feysot , Cécile Masson , Yves Ville , Philippe Roth , Fabienne Prieur , Bettina Bessieres , Maryse Bonniere , Tania Attie-Bitach

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Birth defects research

Avec: Suzanne Chartier , Lucile Boutaud , Edouard Le Guillou , Caroline Alby , Clarisse Billon , Anne-Elodie Millischer , Catherine Caillaud , Louise Galmiche , Charlotte Mechler , Pascale Sonigo , Nathalie Boddaert , Stanislas Lyonnet , Sophie Rondeau , Christine Bole-Feysot , Cécile Masson , Yves Ville , Philippe Roth , Isabelle Desguerre , Férechté Encha-Razavi , Tania Attie-Bitach

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

Journal of visualized experiments : JoVE

Avec: Lucile Boutaud , Marie Michael , Céline Banal , Damelys Calderon , Sarah Farcy , Julie Pernelle , Nicolas Goudin , Camille Maillard , Clémantine Dimartino , Cécile Deleschaux , Sébastien Dupichaud , Corinne Lebreton , Sophie Saunier , Tania Attié-Bitach , Nadia Bahi-Buisson , Nathalie Lefort , Sophie Thomas

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

European journal of human genetics : EJHG

Avec: Romain Nicolle , Lucile Boutaud , Laurence Loeuillet , Naima Talhi , Sarah Grotto , Nicolas Bourgon , Agnese Feresin , Aurélie Coussement , Mathilde Barrois , Marie-Paule Beaujard , Thomas Rambaud , Férechté Razavi , Tania Attié-Bitach

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Clinical genetics

Avec: Aude Tessier , Lucile Boutaud , Ange-Line Bruel , Christel Thauvin-Robinet , Philippe Roth , Valérie Malan , Marie-Paule Beaujard , Amale Achaiaa , Judite de Oliveira , Julie Steffann , Ferechte Encha-Razavi , Laurence Faivre , Bettina Bessières , Tania Attié-Bitach

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

Birth defects research

Avec: Emmanuelle Pannier , Abel Sekri , Nathalie Roux , Alexandre Vasiljevic , Laïla El Khattabi , Nicolas Chatron , Sarah Grotto , Delphine Menzella , Gilles Grangé , Florent Thébault , Jérôme Massardier , Cécile Fourrage , Laurence Lohmann , Vassilis Tsatsaris , Audrey Putoux , Lucile Boutaud , Tania Attié-Bitach

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Acta neuropathologica communications

Avec: Aude Tessier , Nathalie Roux , Lucile Boutaud , Elodie Lunel , Leila Hakkakian , Mélanie Parisot , Meriem Garfa-Traoré , Amale Ichkou , Nadia Elkhartoufi , Christine Bole , Patrick Nitschke , Jeanne Amiel , Jelena Martinovic , Férechté Encha-Razavi , Tania Attié-Bitach , Sophie Thomas

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Brain : a journal of neurology

Avec: Lucile Boutaud , Benedetta Ruzzenente , Aude Tessier , Olivia Anselem , Emmanuelle Pannier , Sarah Grotto , Naïma Talhi , Daniel Amram , Marjolaine Willems , Constance Wells , Patricia Blanchet , Yuri Musizzano , Clémence Jauny , Patrick Nitschke , Christine Bole-Feysot , Bettina Bessières , Houria Salhi , Amale Achaiaa , Metodi D Metodiev , Ferechte Razavi , Agnès Rötig , Laurence Loeuilllet , Tania Attié-Bitach

Loss-of-function variants in

Journal of medical genetics

Avec: Solveig Heide , Emanuela Argilli , Stéphanie Valence , Lucile Boutaud , Nathalie Roux , Cyril Mignot , Caroline Nava , Boris Keren , Kim Giraudat , Anne Faudet , Anna Gerasimenko , Catherine Garel , Eleonore Blondiaux , Agnès Rastetter , David Grevent , Carolyn Le , Lisa Mackenzie , Linda Richards , Tania Attié-Bitach , Christel Depienne , Elliott Sherr , Delphine Héron

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

American journal of medical genetics. Part A

Avec: Pauline Le Van Quyen , Nadège Calmels , Maryse Bonnière , Suzanne Chartier , Féréchté Razavi , Jamel Chelly , Salima El Chehadeh , Sarah Baer , Lucile Boutaud , Séverine Bacrot , Cathy Obringer , Romain Favre , Tania Attié-Bitach , Vincent Laugel , Maria C Antal

Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Prenatal diagnosis

Avec: Quentin Hennocq , Nicolas Garcelon , Thomas Bongibault , Thomas Bouygues , Sandrine Marlin , Jeanne Amiel , Lucile Boutaud , Maxime Douillet , Stanislas Lyonnet , Vèronique Pingault , Arnaud Picard , Marlèe Rio , Tania Attie-Bitach , Roman H Khonsari , Nathalie Roux

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Journal of medical genetics

Avec: Marion Aubert-Mucca , Céline Huber , Genevieve Baujat , Caroline Michot , Mohammed Zarhrate , Marc Bras , Lucile Boutaud , Valérie Malan , Tania Attie-Bitach , Auteur inconnu , Valerie Cormier-Daire

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Molecular genetics & genomic medicine

Avec: Guillaume Cogan , Nicolas Bourgon , Roxana Borghese , Emmanuel Julien , Aurélia Jaquette , Bertrand Stos , Amale Achaiaa , Sophie Chuon , Patrick Nitschke , Cécile Fourrage , Julien Stirnemann , Lucile Boutaud , Tania Attie-Bitach

Réseau de co-auteurs

Tania Attie-Bitach 8 collaborations

Tania Attié-Bitach 8 collaborations

Sophie Thomas 5 collaborations

Nathalie Roux 5 collaborations

Amale Achaiaa 5 collaborations

Patrick Nitschke 4 collaborations

Aude Tessier 4 collaborations

Nadia Elkhartoufi 3 collaborations

Bettina Bessières 3 collaborations

Cécile Masson 3 collaborations

Jeanne Amiel 3 collaborations

Stanislas Lyonnet 3 collaborations

Philippe Roth 3 collaborations

Sarah Grotto 3 collaborations

Christine Bole 2 collaborations

Quentin Hennocq 2 collaborations

Thomas Bongibault 2 collaborations

Sandrine Marlin 2 collaborations

Maxime Douillet 2 collaborations

Marjolaine Willems 2 collaborations

Arnaud Picard 2 collaborations

Nicolas Garcelon 2 collaborations

Roman H Khonsari 2 collaborations

Clarisse Billon 2 collaborations

Leila Hakkakian 2 collaborations

Yves Ville 2 collaborations

Suzanne Chartier 2 collaborations

Christine Bole-Feysot 2 collaborations

Férechté Encha-Razavi 2 collaborations

Nicolas Bourgon 2 collaborations

Marie-Paule Beaujard 2 collaborations

Valérie Malan 2 collaborations

Emmanuelle Pannier 2 collaborations

Cécile Fourrage 2 collaborations

Madeline Louise Reilly 1 collaboration

Alexandre Benmerah 1 collaboration

Leïla Ghesh 1 collaboration

Marie Denis Musquer 1 collaboration

Louise Devisme 1 collaboration

Morgane Stichelbout 1 collaboration

Pascal Vaast 1 collaboration

Odile Boute 1 collaboration

Anne-Sophie Riteau 1 collaboration

Claudine Le Vaillant 1 collaboration

Norbert Winer 1 collaboration

Madeleine Joubert 1 collaboration

Stéphane Bezieau 1 collaboration

Claire Beneteau 1 collaboration

Lyse Ruaud 1 collaboration

Faustine Ageorges 1 collaboration

Michel Vekemans 1 collaboration

Alain Verloes 1 collaboration

Geneviève Baujat 1 collaboration

Georges Carpentier 1 collaboration

Pierre Corre 1 collaboration

Françoise Denoyelle 1 collaboration

François Djate Delbrah 1 collaboration

Eva Galliani 1 collaboration

Wuttichart Kamolvisit 1 collaboration

Dan Milea 1 collaboration

Véronique Pingault 1 collaboration

Thantrira Porntaveetus 1 collaboration

Sandrine Touzet-Roumazeille 1 collaboration

Marlène Rio 1 collaboration

Arnaud Molin 1 collaboration

Céline Poirsier 1 collaboration

Alix Clemenson 1 collaboration

Coralie Dauge 1 collaboration

Maude Grelet 1 collaboration

Sabine Sigaudy 1 collaboration

Sophie Patrier 1 collaboration

Alice Goldenberg 1 collaboration

Valérie Layet 1 collaboration

Julia Tantau 1 collaboration

Clémence Fleury 1 collaboration

Agnès Liard 1 collaboration

Alain Diguet 1 collaboration

Radia Fritih 1 collaboration

Eric Verspyck 1 collaboration

John Rendu 1 collaboration

Ferechté Razavi 1 collaboration

Eglantine Magnin 1 collaboration

Christine Bôle-Feysot 1 collaboration

Fabienne Prieur 1 collaboration

Bettina Bessieres 1 collaboration

Maryse Bonniere 1 collaboration

Edouard Le Guillou 1 collaboration

Caroline Alby 1 collaboration

Anne-Elodie Millischer 1 collaboration

Catherine Caillaud 1 collaboration

Louise Galmiche 1 collaboration

Charlotte Mechler 1 collaboration

Pascale Sonigo 1 collaboration

Nathalie Boddaert 1 collaboration

Sophie Rondeau 1 collaboration

Isabelle Desguerre 1 collaboration

Marie Michael 1 collaboration

Céline Banal 1 collaboration

Damelys Calderon 1 collaboration

Sarah Farcy 1 collaboration

Julie Pernelle 1 collaboration

Nicolas Goudin 1 collaboration

Camille Maillard 1 collaboration

Clémantine Dimartino 1 collaboration

Cécile Deleschaux 1 collaboration

Sébastien Dupichaud 1 collaboration

Corinne Lebreton 1 collaboration

Sophie Saunier 1 collaboration

Nadia Bahi-Buisson 1 collaboration

Nathalie Lefort 1 collaboration

Romain Nicolle 1 collaboration

Laurence Loeuillet 1 collaboration

Naima Talhi 1 collaboration

Agnese Feresin 1 collaboration

Aurélie Coussement 1 collaboration

Mathilde Barrois 1 collaboration

Thomas Rambaud 1 collaboration

Férechté Razavi 1 collaboration

Ange-Line Bruel 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Judite de Oliveira 1 collaboration

Julie Steffann 1 collaboration

Ferechte Encha-Razavi 1 collaboration

Laurence Faivre 1 collaboration

Abel Sekri 1 collaboration

Alexandre Vasiljevic 1 collaboration

Laïla El Khattabi 1 collaboration

Nicolas Chatron 1 collaboration

Delphine Menzella 1 collaboration

Gilles Grangé 1 collaboration

Florent Thébault 1 collaboration

Jérôme Massardier 1 collaboration

Laurence Lohmann 1 collaboration

Vassilis Tsatsaris 1 collaboration

Audrey Putoux 1 collaboration

Elodie Lunel 1 collaboration

Mélanie Parisot 1 collaboration

Meriem Garfa-Traoré 1 collaboration

Amale Ichkou 1 collaboration

Jelena Martinovic 1 collaboration

Benedetta Ruzzenente 1 collaboration

Olivia Anselem 1 collaboration

Naïma Talhi 1 collaboration

Daniel Amram 1 collaboration

Constance Wells 1 collaboration

Patricia Blanchet 1 collaboration

Yuri Musizzano 1 collaboration

Clémence Jauny 1 collaboration

Houria Salhi 1 collaboration

Metodi D Metodiev 1 collaboration

Ferechte Razavi 1 collaboration

Agnès Rötig 1 collaboration

Laurence Loeuilllet 1 collaboration

Solveig Heide 1 collaboration

Emanuela Argilli 1 collaboration

Stéphanie Valence 1 collaboration

Cyril Mignot 1 collaboration

Caroline Nava 1 collaboration

Boris Keren 1 collaboration

Kim Giraudat 1 collaboration

Anne Faudet 1 collaboration

Anna Gerasimenko 1 collaboration

Catherine Garel 1 collaboration

Eleonore Blondiaux 1 collaboration

Agnès Rastetter 1 collaboration

David Grevent 1 collaboration

Carolyn Le 1 collaboration

Lisa Mackenzie 1 collaboration

Linda Richards 1 collaboration

Christel Depienne 1 collaboration

Elliott Sherr 1 collaboration

Delphine Héron 1 collaboration

Pauline Le Van Quyen 1 collaboration

Nadège Calmels 1 collaboration

Maryse Bonnière 1 collaboration

Féréchté Razavi 1 collaboration

Jamel Chelly 1 collaboration

Salima El Chehadeh 1 collaboration

Sarah Baer 1 collaboration

Séverine Bacrot 1 collaboration

Cathy Obringer 1 collaboration

Romain Favre 1 collaboration

Vincent Laugel 1 collaboration

Maria C Antal 1 collaboration

Thomas Bouygues 1 collaboration

Vèronique Pingault 1 collaboration

Marlèe Rio 1 collaboration

Marion Aubert-Mucca 1 collaboration

Céline Huber 1 collaboration

Genevieve Baujat 1 collaboration

Caroline Michot 1 collaboration

Mohammed Zarhrate 1 collaboration

Marc Bras 1 collaboration

None None 1 collaboration

Valerie Cormier-Daire 1 collaboration

Guillaume Cogan 1 collaboration

Roxana Borghese 1 collaboration

Emmanuel Julien 1 collaboration

Aurélia Jaquette 1 collaboration

Bertrand Stos 1 collaboration

Sophie Chuon 1 collaboration

Julien Stirnemann 1 collaboration