Tania Attié-Bitach

Publications (43)

Functional Vision Analysis in Patients With CHARGE Syndrome.

Journal of pediatric ophthalmology and strabismus
Avec: Gilles C Martin , Matthieu P Robert , Georges Challe , Nhung T H Trinh , Tania Attié-Bitach , Dominique Brémond-Gignac , Bahram Bodaghi , Véronique Abadie

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

Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.

European journal of medical genetics
Avec: Nina-Maria Wilpert , Florent Marguet , Camille Maillard , Fabien Guimiot , Jelena Martinovic , Séverine Drunat , Tania Attié-Bitach , Ferechté Razavi , Aude Tessier , Yline Capri , Annie Laquerrière , Nadia Bahi-Buisson

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

American journal of human genetics
Avec: Nuno Maia , Sven Potelle , Hamide Yildirim , Sandrine Duvet , Shyam K Akula , Celine Schulz , Elsa Wiame , Alexander Gheldof , Katherine O'Kane , Abbe Lai , Karen Sermon , Maïa Proisy , Philippe Loget , Tania Attié-Bitach , Chloé Quelin , Ana Maria Fortuna , Ana Rita Soares , Arjan P M de Brouwer , Emile Van Schaftingen , Marie-Cécile Nassogne , Christopher A Walsh , Katrien Stouffs , Paula Jorge , Anna C Jansen , François Foulquier

Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.

Frontiers in molecular neuroscience
Avec: Jean Marie Delalande , Nandor Nagy , Conor J McCann , Dipa Natarajan , Julie E Cooper , Gabriela Carreno , David Dora , Alison Campbell , Nicole Laurent , Polychronis Kemos , Sophie Thomas , Caroline Alby , Tania Attié-Bitach , Stanislas Lyonnet , Malcolm P Logan , Allan M Goldstein , Megan G Davey , Robert M W Hofstra , Nikhil Thapar , Alan J Burns

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus.

Brain pathology (Zurich, Switzerland)
Avec: Aurélie Beaufrère , Bettina Bessières , Maryse Bonnière , Marine Driessen , Christian Alfano , Thérèse Couderc , Marc Thiry , Nicolas Thelen , Marc Lecuit , Tania Attié-Bitach , Michel Vekemans , Yves Ville , Laurent Nguyen , Marianne Leruez-Ville , Férechté Encha-Razavi

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Brain : a journal of neurology
Avec: Artem Kim , Clara Savary , Christèle Dubourg , Wilfrid Carré , Charlotte Mouden , Houda Hamdi-Rozé , Hélène Guyodo , Jerome Le Douce , Auteur inconnu , Auteur inconnu , Laurent Pasquier , Elisabeth Flori , Marie Gonzales , Claire Bénéteau , Odile Boute , Tania Attié-Bitach , Joelle Roume , Louise Goujon , Linda Akloul , Sylvie Odent , Erwan Watrin , Valérie Dupé , Marie de Tayrac , Véronique David

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 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

Re-focusing on Agnathia-Otocephaly complex.

Clinical oral investigations
Avec: C Dubucs , N Chassaing , C Sergi , M Aubert-Mucca , T Attié-Bitach , D Lacombe , C Thauvin-Robinet , S Arpin , M J Perez , C Cabrol , C P Chen , J Aziza , E Colin , J Martinovic , P Calvas , Julie Plaisancié

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Clinical genetics
Avec: Laura Mary , Kirsley Chennen , Corinne Stoetzel , Manuela Antin , Anne Leuvrey , Elsa Nourisson , Elisabeth Alanio-Detton , Maria C Antal , Tania Attié-Bitach , Patrice Bouvagnet , Raymonde Bouvier , Annie Buenerd , Alix Clémenson , Louise Devisme , Bernard Gasser , Brigitte Gilbert-Dussardier , Fabien Guimiot , Philippe Khau Van Kien , Brigitte Leroy , Philippe Loget , Jelena Martinovic , Fanny Pelluard , Marie-Josée Perez , Florence Petit , Lucile Pinson , Caroline Rooryck-Thambo , Olivier Poch , Hélène Dollfus , Elise Schaefer , Jean Muller

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 , Florence Fellmann , 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

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.

Frontiers in molecular neuroscience
Avec: Jean Marie Delalande , Nandor Nagy , Conor J McCann , Dipa Natarajan , Julie E Cooper , Gabriela Carreno , David Dora , Alison Campbell , Nicole Laurent , Polychronis Kemos , Sophie Thomas , Caroline Alby , Tania Attié-Bitach , Stanislas Lyonnet , Malcolm P Logan , Allan M Goldstein , Megan G Davey , Robert M W Hofstra , Nikhil Thapar , Alan J Burns

Morphological and genetic causes of fetal cardiomyopathies.

Clinical genetics
Avec: Eva Kohaut , Flavie Ader , Caroline Rooryck , Fanny Pelluard , Maryse Bonnière , Gwenaelle André , Fanny Sauvestre , Philippe Roth , Diala Khraiche , Bettina Bessières , Tania Attié-Bitach , Pascale Richard

Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

Clinical genetics
Avec: Jérémy Dana , Guillaume Dorval , Christine Saint Martin , Kahina Belhous , Raphael Levy , Sandrine Marlin , Isabelle De Bie , Manon Mautret-Godefroy , Antonio Rausell , Marlène Rio , Elise Boucher-Brischoux , Tania Attié-Bitach , Nathalie Boddaert , Véronique Pingault

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Sabbagh , Sadegheh Haghshenas , Juliette Piard , Chloé Trouvé , Jeanne Amiel , Tania Attié-Bitach , Tugce Balci , Mouna Barat-Houari , Alyce Belonis , Odile Boute , Diana S Brightman , Ange-Line Bruel , Stefano Giuseppe Caraffi , Nicolas Chatron , Corinne Collet , William Dufour , Patrick Edery , Chin-To Fong , Carlo Fusco , Vincent Gatinois , Evan Gouy , Anne-Marie Guerrot , Solveig Heide , Aakash Joshi , Natalya Karp , Boris Keren , Marion Lesieur-Sebellin , Jonathan Levy , Michael A Levy , Claire Lozano , Stanislas Lyonnet , Henri Margot , Pauline Marzin , Haley McConkey , Vincent Michaud , Gaël Nicolas , Mevyn Nizard , Alix Paulet , Francesca Peluso , Vincent Pernin , Laurence Perrin , Christophe Philippe , Chitra Prasad , Madhavi Prasad , Raissa Relator , Marlène Rio , Sophie Rondeau , Valentin Ruault , Nathalie Ruiz-Pallares , Elodie Sanchez , Debbie Shears , Victoria Mok Siu , Arthur Sorlin , Matthew Tedder , Mylène Tharreau , Frédéric Tran Mau-Them , Liselot van der Laan , Julien Van Gils , Alain Verloes , Sandra Whalen , Marjolaine Willems , Kévin Yauy , Roberta Zuntini , Jennifer Kerkhof , Bekim Sadikovic , David Geneviève

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Journal of medical genetics
Avec: Silvestre Cuinat , Chloé Quélin , Claire Effray , Christèle Dubourg , Gwenaelle Le Bouar , Anne-Sophie Cabaret-Dufour , Philippe Loget , Maia Proisy , Fanny Sauvestre , Mélie Sarreau , Sophie Martin-Berenguer , Claire Beneteau , Sophie Naudion , Vincent Michaud , Benoit Arveiler , Aurélien Trimouille , Pierre Macé , Sabine Sigaudy , Olga Glazunova , Julia Torrents , Laure Raymond , Marie-Hélène Saint-Frison , Tania Attié-Bitach , Mathilde Lefebvre , Yline Capri , Nicolas Bourgon , Christel Thauvin-Robinet , Frédéric Tran Mau-Them , Ange-Line Bruel , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Laurence Faivre , Anne-Claire Brehin , Alice Goldenberg , Sophie Patrier-Sallebert , Alexandre Perani , Benjamin Dauriat , Sylvie Bourthoumieu , Catherine Yardin , Valentine Marquet , Marion Barnique , Maryse Fiorenza-Gasq , Isabelle Marey , Danielle Tournadre , Raïa Doumit , Frédérique Nugues , Tahsin Stefan Barakat , Francisco Bustos , Sylvie Jaillard , Erika Launay , Laurent Pasquier , Sylvie Odent

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 , Caroline Michot , Fanny Pelluard , Audrey Putoux , Sandra Whalen , Jamal Ghoumid , Sylvie Manouvrier-Hanu , Florence Petit

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Kidney international
Avec: Penelope Jordan , Christelle Arrondel , Bettina Bessières , Aude Tessier , Tania Attié-Bitach , Sarah Guterman , Vincent Morinière , Corinne Antignac , Sophie Saunier , Marie-Claire Gubler , Laurence Heidet

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Kidney international
Avec: Johannes Münch , Marie Engesser , Ria Schönauer , J Austin Hamm , Christin Hartig , Elena Hantmann , Gulsen Akay , Davut Pehlivan , Tadahiro Mitani , Zeynep Coban Akdemir , Beyhan Tüysüz , Toshihiko Shirakawa , Sumito Dateki , Laura R Claus , Albertien M van Eerde , Auteur inconnu , Thomas Smol , Louise Devisme , Hélène Franquet , Tania Attié-Bitach , Timo Wagner , Carsten Bergmann , Anne Kathrin Höhn , Shirlee Shril , Ari Pollack , Tara Wenger , Abbey A Scott , Sarah Paolucci , Jillian Buchan , George C Gabriel , Jennifer E Posey , James R Lupski , Florence Petit , Andrew A McCarthy , Gregory J Pazour , Cecilia W Lo , Bernt Popp , Jan Halbritter

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 , Caroline Michot , Sylvie Odent , Lyse Ruaud , Elise Sacaze , Virginie Hamel , Rémy Bordonné , Anne-Louise Leutenegger , Patrick Edery , Lydie Burglen , Tania Attié-Bitach , Sylvie Mazoyer , Marion Delous

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

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.

Prenatal diagnosis
Avec: Audrey Lamouroux , Coralie Dauge , Constance Wells , Eve Mousty , Lucile Pinson , Hélène Cavé , Yline Capri , Jean-Michel Faure , Frédéric Grosjean , Fanny Sauvestre , Tania Attié-Bitach , Fanny Pelluard , David Geneviève

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Birth defects research
Avec: Yosra Lajmi , Laurence Loeuillet , Giulia Petrilli , Charles Egloff , Juliette Nectoux , Clémence Molac , Nathalie Roux , Emmanuelle Pannier , Amale Achaiaa , Zaina Ait Arkoub , Sophie Chuon , Aurélie Coussement , Jean Michel Dupont , Valérie Malan , Emmanuel Spaggiari , Ferechte Razavi , Jeanne Amiel , Bettina Bessières , Sarah Grotto , Tania Attié-Bitach

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

Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.

Prenatal diagnosis
Avec: Nicolas Bourgon , Ruiqian Chen , Gilles Grangé , Sarah Grotto , Clémence Molac , Laurence Loeuillet , Tania Attié-Bitach

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Human mutation
Avec: Huw B Thomas , Katherine A Wood , Weronika A Buczek , Christopher T Gordon , Véronique Pingault , Tania Attié-Bitach , Kathryn E Hentges , Vinod C Varghese , Jeanne Amiel , William G Newman , Raymond T O'Keefe

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.

Neurobiology of disease
Avec: Kévin Duarte , Solveig Heide , Sandrine Poëa-Guyon , Véronique Rousseau , Christel Depienne , Agnès Rastetter , Caroline Nava , Tania Attié-Bitach , Ferechté Razavi , Jelena Martinovic , Marie Laure Moutard , Jacqueline Cherfils , Cyril Mignot , Delphine Héron , Jean-Vianney Barnier

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Solveig Heide , Myrtille Spentchian , Stéphanie Valence , Julien Buratti , Corinne Mach , Elodie Lejeune , Valérie Olin , Marta Massimello , Daphné Lehalle , Linda Mouthon , Sandra Whalen , Anne Faudet , Cyril Mignot , Catherine Garel , Eleonore Blondiaux , Mathilde Lefebvre , Geneviève Quenum-Miraillet , Sandra Chantot-Bastaraud , Mathieu Milh , Florence Bretelle , Vincent des Portes , Laurent Guibaud , Audrey Putoux , Vassili Tsatsaris , Marta Spodenkiewic , Valérie Layet , Rodolphe Dard , Laurent Mandelbrot , Agnès Guet , Sébastien Moutton , Magali Gorce , Mathilde Nizon , Marie Vincent , Claire Beneteau , Marie-Amélie Rocchisanni , Alexandra Benachi , Julien Saada , Tania Attié-Bitach , Lucie Guilbaud , Paul Maurice , Stéphanie Friszer , Jean-Marie Jouannic , Thierry Billette de Villemeur , Marie-Laure Moutard , Boris Keren , Delphine Héron

Heterogeneity in defining fetal corpus callosal pathology: systematic review.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Avec: H Mahallati , A Sotiriadis , C Celestin , A E Millischer , P Sonigo , D Grevent , N O'Gorman , N Bahi-Buisson , T Attié-Bitach , Y Ville , L J Salomon

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

American journal of medical genetics. Part A
Avec: Varoona Bizaoui , Céline Huber , Eva Kohaut , Joelle Roume , Maryse Bonnière , Tania Attié-Bitach , Valérie Cormier-Daire

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

Clinical genetics
Avec: Julien Van-Gils , Sophie Naudion , Jérôme Toutain , Gwenaelle Lancelot , Tania Attié-Bitach , Sophie Blesson , Bénédicte Demeer , Bérénice Doray , Marie Gonzales , Jelena Martinovic , Sandra Whalen , Laurence Taine , Benoit Arveiler , Didier Lacombe , Patricia Fergelot

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Human molecular genetics
Avec: Audrey Putoux , Dominique Baas , Marie Paschaki , Laurette Morlé , Charline Maire , Tania Attié-Bitach , Sophie Thomas , Bénédicte Durand

GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.

American journal of medical genetics. Part A
Avec: Alix Mathonnet , Séverine Cunat , Fabienne Allias , Sandrine Caillot , Cyrielle Thonnon , Marianne Till , Tania Attié-Bitach , Renaud Touraine , Sandrine Meunier , Charline Cartellier , Massimiliano Rossi , Jocelyne Attia , Audrey Putoux

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.

Orphanet journal of rare diseases
Avec: Claude Messiaen , Caroline Racine , Ahlem Khatim , Louis Soussand , Sylvie Odent , Didier Lacombe , Sylvie Manouvrier , Patrick Edery , Sabine Sigaudy , David Geneviève , Christel Thauvin-Robinet , Laurent Pasquier , Florence Petit , Massimiliano Rossi , Marjolaine Willems , Tania Attié-Bitach , Pierre-Henry Roux-Levy , Laurent Demougeot , Lilia Ben Slama , Paul Landais , Auteur inconnu , Anne-Sophie Jannot , Christine Binquet , Arnaud Sandrin , Alain Verloes , Laurence Faivre

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

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Marieke Joosten , Caroline Alby , Tania Attié-Bitach , Kelly Gilmore , Christele Dubourg , Mélanie Fradin , Tianyun Wang , Evangeline C Kurtz-Nelson , Kaitlyn P Ahlers , Peer Arts , Christopher P Barnett , Myla Ashfaq , Anwar Baban , Myrthe van den Born , Sarah Borrie , Tiffany Busa , Alicia Byrne , Miriam Carriero , Claudia Cesario , Karen Chong , Anna Maria Cueto-González , Jennifer C Dempsey , Karin E M Diderich , Dan Doherty , Stense Farholt , Erica H Gerkes , Svetlana Gorokhova , Lutgarde C P Govaerts , Pernille A Gregersen , Scott E Hickey , Mathilde Lefebvre , Francesca Mari , Jelena Martinovic , Hope Northrup , Melanie O'Leary , Kareesma Parbhoo , Sophie Patrier , Bernt Popp , Fernando Santos-Simarro , Corinna Stoltenburg , Christel Thauvin-Robinet , Elisabeth Thompson , Anneke T Vulto-van Silfhout , Farah R Zahir , Hamish S Scott , Rachel K Earl , Evan E Eichler , Neeta L Vora , Yael Wilnai , Jessica L Giordano , Ronald J Wapner , Jill A Rosenfeld , Monique C Haak , Gijs W E Santen

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

American journal of medical genetics. Part A
Avec: Emmanuelle Ranza , Morgane Le Gouez , Anne Guimier , Naziha Khen Dunlop , Sylvie Beaudoin , Valérie Malan , Caroline Michot , Geneviève Baujat , Marlène Rio , Valérie Cormier-Daire , Véronique Abadie , Sabine Sarnacki , Christophe Delacourt , Stanislas Lyonnet , Tania Attié-Bitach , Véronique Pingault , Véronique Rousseau , Jeanne Amiel

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

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

BMC medical informatics and decision making
Avec: Carole Faviez , Xiaoyi Chen , Nicolas Garcelon , Mohamad Zaidan , Katy Billot , Friederike Petzold , Hassan Faour , Maxime Douillet , Jean-Michel Rozet , Valérie Cormier-Daire , Tania Attié-Bitach , Stanislas Lyonnet , Sophie Saunier , Anita Burgun

Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).

Clinical genetics
Avec: Jeanne Jury , Jean-François Benoist , Madeleine Joubert , Chloé Quelin , Thomas Besnard , Solène Conrad , Claudine Le Vaillant , Stéphane Bézieau , Bertrand Isidor , Tania Attié-Bitach , Benjamin Cogné , Marie Vincent

Réseau de co-auteurs

Lucile Boutaud 8 collaborations
Sarah Grotto 7 collaborations
Audrey Putoux 7 collaborations
Jelena Martinovic 6 collaborations
Sophie Thomas 6 collaborations
Stanislas Lyonnet 6 collaborations
Bettina Bessières 6 collaborations
Jeanne Amiel 6 collaborations
Maryse Bonnière 5 collaborations
Aude Tessier 5 collaborations
Sylvie Odent 5 collaborations
Florence Petit 5 collaborations
None None 4 collaborations
Laurent Pasquier 4 collaborations
Christel Thauvin-Robinet 4 collaborations
Nathalie Roux 4 collaborations
Valérie Cormier-Daire 4 collaborations
Fanny Pelluard 4 collaborations
Solveig Heide 4 collaborations
Sandra Whalen 4 collaborations
Laurence Loeuillet 4 collaborations
Salima El Chehadeh 3 collaborations
Yline Capri 3 collaborations
Philippe Loget 3 collaborations
Chloé Quelin 3 collaborations
Caroline Alby 3 collaborations
Ange-Line Bruel 3 collaborations
Valérie Malan 3 collaborations
Amale Achaiaa 3 collaborations
Laurence Faivre 3 collaborations
Emmanuelle Pannier 3 collaborations
Geneviève Baujat 3 collaborations
Louise Devisme 3 collaborations
Sophie Naudion 3 collaborations
Fanny Sauvestre 3 collaborations
Marlène Rio 3 collaborations
Véronique Pingault 3 collaborations
Patrick Edery 3 collaborations
Boris Keren 3 collaborations
Marjolaine Willems 3 collaborations
David Geneviève 3 collaborations
Mathilde Lefebvre 3 collaborations
Nicolas Bourgon 3 collaborations
Caroline Michot 3 collaborations
Sophie Saunier 3 collaborations
Cyril Mignot 3 collaborations
Delphine Héron 3 collaborations
Véronique Abadie 2 collaborations
Maria C Antal 2 collaborations
Camille Maillard 2 collaborations
Fabien Guimiot 2 collaborations
Ferechté Razavi 2 collaborations
Nadia Bahi-Buisson 2 collaborations
Jean Marie Delalande 2 collaborations
Nandor Nagy 2 collaborations
Conor J McCann 2 collaborations
Dipa Natarajan 2 collaborations
Julie E Cooper 2 collaborations
Gabriela Carreno 2 collaborations
David Dora 2 collaborations
Alison Campbell 2 collaborations
Nicole Laurent 2 collaborations
Polychronis Kemos 2 collaborations
Malcolm P Logan 2 collaborations
Allan M Goldstein 2 collaborations
Megan G Davey 2 collaborations
Robert M W Hofstra 2 collaborations
Nikhil Thapar 2 collaborations
Alan J Burns 2 collaborations
Férechté Encha-Razavi 2 collaborations
Christèle Dubourg 2 collaborations
Marie Gonzales 2 collaborations
Claire Bénéteau 2 collaborations
Odile Boute 2 collaborations
Joelle Roume 2 collaborations
Philippe Roth 2 collaborations
Marie-Paule Beaujard 2 collaborations
Alexandre Vasiljevic 2 collaborations
Nicolas Chatron 2 collaborations
Gilles Grangé 2 collaborations
Céline Huber 2 collaborations
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