Tania Attie-Bitach

Lucile Boutaud 8 collaborations

Jeanne Amiel 7 collaborations

Stanislas Lyonnet 7 collaborations

None None 5 collaborations

Jelena Martinovic 5 collaborations

Yves Ville 5 collaborations

Amale Achaiaa 4 collaborations

Mathilde Lefebvre 4 collaborations

Bettina Bessières 4 collaborations

Marlène Rio 4 collaborations

Alice Goldenberg 4 collaborations

Laurence Faivre 4 collaborations

Sandra Whalen 3 collaborations

Fabien Guimiot 3 collaborations

Laurence Loeuillet 3 collaborations

Aude Tessier 3 collaborations

Julien Stirnemann 3 collaborations

Quentin Hennocq 3 collaborations

Nicolas Garcelon 3 collaborations

Thomas Bongibault 3 collaborations

Maxime Douillet 3 collaborations

Arnaud Picard 3 collaborations

Roman H Khonsari 3 collaborations

Marion Aubert-Mucca 3 collaborations

Marjolaine Willems 3 collaborations

Sylvie Odent 3 collaborations

Cécile Masson 3 collaborations

Fabienne Prieur 3 collaborations

Claire Beneteau 3 collaborations

Mathilde Nizon 3 collaborations

Didier Lacombe 3 collaborations

Catherine Vincent-Delorme 3 collaborations

Patrick Calvas 3 collaborations

Nicolas Chassaing 3 collaborations

Julie Plaisancié 3 collaborations

Sarah Grotto 3 collaborations

Michel Vekemans 2 collaborations

Fabienne Giuliano 2 collaborations

Romulus Grigorescu 2 collaborations

Selima Ben Miled 2 collaborations

Julia Tantau 2 collaborations

Ferechte Encha-Razavi 2 collaborations

Roberta Tammaro 2 collaborations

Maria Iascone 2 collaborations

Brunella Franco 2 collaborations

Thomas Bouygues 2 collaborations

Sandrine Marlin 2 collaborations

Nathalie Roux 2 collaborations

Caroline Michot 2 collaborations

Valérie Malan 2 collaborations

Valerie Cormier-Daire 2 collaborations

Olivier Patat 2 collaborations

Renaud Touraine 2 collaborations

Valérie Cormier-Daire 2 collaborations

Geneviève Baujat 2 collaborations

Nicolas Bourgon 2 collaborations

Patrick Nitschke 2 collaborations

Pierre Corre 2 collaborations

Klaus Dieterich 2 collaborations

Eva Galliani 2 collaborations

Thantrira Porntaveetus 2 collaborations

Annick Toutain 2 collaborations

David Geneviève 2 collaborations

Ange-Line Bruel 2 collaborations

Frederic Tran Mau-Them 2 collaborations

Christel Thauvin-Robinet 2 collaborations

Clarisse Billon 2 collaborations

Arnaud Molin 2 collaborations

Sabine Sigaudy 2 collaborations

Valérie Layet 2 collaborations

Sophie Thomas 2 collaborations

Nadia Elkhartoufi 2 collaborations

Philippe Roth 2 collaborations

Bettina Bessieres 2 collaborations

Elise Schaefer 2 collaborations

Sébastien Moutton 2 collaborations

Chloé Quélin 2 collaborations

Sophie Blesson 2 collaborations

Christine Francannet 2 collaborations

Yline Capri 2 collaborations

Marie-Hélène Saint-Frison 2 collaborations

Antonio Vitobello 2 collaborations

Marine Legendre 2 collaborations

Laetitia Lambert 2 collaborations

Estelle Colin 2 collaborations

Charlotte Mechler 2 collaborations

Isabelle Desguerre 2 collaborations

Jean-Michel Rozet 2 collaborations

Odile Boute 2 collaborations

Fanny Laffargue 2 collaborations

Gwenaël Le Guyader 2 collaborations

Nicolas Chatron 2 collaborations

Vassilis Tsatsaris 2 collaborations

Alain Verloes 2 collaborations

Marie-Line Jacquemont 2 collaborations

Fadi F Hamdan 2 collaborations

Jacques L Michaud 2 collaborations

N Vinit 1 collaboration

B Bessières 1 collaboration

E Spaggiari 1 collaboration

L Heidet 1 collaboration

M-C Gubler 1 collaboration

S Dreux 1 collaboration

T Attie-Bitach 1 collaboration

T Blanc 1 collaboration

Y Ville 1 collaboration

Ahmed El Mouatani 1 collaboration

Géraldine Van Winckel 1 collaboration

Khaoula Zaafrane-Khachnaoui 1 collaboration

Sophie Kaltenbach 1 collaboration

Andrea Superti-Furga 1 collaboration

Heidi Fodstad 1 collaboration

Nicolas Rive Le Gouard 1 collaboration

Romain Nicolle 1 collaboration

Antoinette Gelot 1 collaboration

Solveig Heide 1 collaboration

Anna Gerasimenko 1 collaboration

Nicolas Derive 1 collaboration

Jean-Marie Jouannic 1 collaboration

Catherine Garel 1 collaboration

Stéphanie Valence 1 collaboration

Geneviève Quenum-Miraillet 1 collaboration

Sandra Chantot-Bastaraud 1 collaboration

Boris Keren 1 collaboration

Delphine Heron 1 collaboration

Laure Coquand 1 collaboration

Clarisse Brunet Avalos 1 collaboration

Anne-Sophie Macé 1 collaboration

Sarah Farcy 1 collaboration

Amandine Di Cicco 1 collaboration

Marusa Lampic 1 collaboration

Ryszard Wimmer 1 collaboration

Betina Bessières 1 collaboration

Vincent Fraisier 1 collaboration

Pierre Sens 1 collaboration

Jean-Baptiste Brault 1 collaboration

Alexandre D Baffet 1 collaboration

Audrey Lamouroux 1 collaboration

Marianne Leruez-Ville 1 collaboration

Jean-Paul Duong Van Huyen 1 collaboration

Amel Sekour 1 collaboration

Brigitte Leroy 1 collaboration

Homa Adle-Biassette 1 collaboration

Houria Salhi 1 collaboration

Maryse Bonnière-Darcy 1 collaboration

Frédéric Causeret 1 collaboration

Julie Bruneau 1 collaboration

Yoann Saillour 1 collaboration

Syril James 1 collaboration

Manuela Morleo 1 collaboration

Rossella Venditti 1 collaboration

Evangelos Theodorou 1 collaboration

Lauren C Briere 1 collaboration

Marion Rosello 1 collaboration

Alfonsina Tirozzi 1 collaboration

Nour Al-Badri 1 collaboration

Frances A High 1 collaboration

Jiahai Shi 1 collaboration

Elena Putti 1 collaboration

Luigi Ferrante 1 collaboration

Viviana Cetrangolo 1 collaboration

Annalaura Torella 1 collaboration

Melissa A Walker 1 collaboration

Romano Tenconi 1 collaboration

Davide Mei 1 collaboration

Renzo Guerrini 1 collaboration

Jasper van der Smagt 1 collaboration

Hester Y Kroes 1 collaboration

Koen L I van Gassen 1 collaboration

Muhammad Bilal 1 collaboration

Muhammad Umair 1 collaboration

Veronica Pingault 1 collaboration

Jeannine Amiel 1 collaboration

Resham Ejaz 1 collaboration

Lance Rodan 1 collaboration

Marcella Zollino 1 collaboration

Pankaj B Agrawal 1 collaboration

Filippo Del Bene 1 collaboration

Vincenzo Nigro 1 collaboration

David A Sweetser 1 collaboration

Laura M Watts 1 collaboration

Marta Bertoli 1 collaboration

Natalie Roux 1 collaboration

Antonio Rausell 1 collaboration

Cate R Paschal 1 collaboration

Jessica L Zambonin 1 collaboration

Cynthia J Curry 1 collaboration

Blanche Martin 1 collaboration

Rebecca S Tooze 1 collaboration

Lara Hawkes 1 collaboration

Usha Kini 1 collaboration

Stephen R F Twigg 1 collaboration

Andrew O M Wilkie 1 collaboration

Vèronique Pingault 1 collaboration

Marlèe Rio 1 collaboration

Céline Huber 1 collaboration

Genevieve Baujat 1 collaboration

Mohammed Zarhrate 1 collaboration

Marc Bras 1 collaboration

Caroline Janel 1 collaboration

Valérie Porquet-Bordes 1 collaboration

Thomas Edouard 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

Cécile Fourrage 1 collaboration

Stéphanie Arpin 1 collaboration

Jean Feydy 1 collaboration

Flavien Rouxel 1 collaboration

Vorasuk Shotelersuk 1 collaboration

Kevin Yauy 1 collaboration

Laurens Hannes 1 collaboration

Marta Atzori 1 collaboration

Jesús Argente 1 collaboration

Catia Attanasio 1 collaboration

Débora G Braslavsky 1 collaboration

Mireille Castanet 1 collaboration

Christèle Dubourg 1 collaboration

An Jacobs 1 collaboration

Julian Martinez-Mayer 1 collaboration

María Inés Pérez Millán 1 collaboration

Nunziana Pezzella 1 collaboration

Elise Pelgrims 1 collaboration

Mio Aerden 1 collaboration

Marijke Bauters 1 collaboration

Anne Rochtus 1 collaboration

Paula Scaglia 1 collaboration

Ann Swillen 1 collaboration

Alejandro Sifrim 1 collaboration

Jeroen Breckpot 1 collaboration

Céline Poirsier 1 collaboration

Alix Clemenson 1 collaboration

Coralie Dauge 1 collaboration

Maude Grelet 1 collaboration

Sophie Patrier 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

Leila Hakkakian 1 collaboration

Eglantine Magnin 1 collaboration

Christine Bôle-Feysot 1 collaboration

Maryse Bonniere 1 collaboration

Emilie Tisserant 1 collaboration

Yannis Duffourd 1 collaboration

Sophie Collardeau-Frachon 1 collaboration

Paul Kuentz 1 collaboration

Mirna Assoum 1 collaboration

Salima El Chehadeh 1 collaboration

Maria Cristina Antal 1 collaboration

Valérie Kremer 1 collaboration

Françoise Girard-Lemaitre 1 collaboration

Jean-Louis Mandel 1 collaboration

Daphne Lehalle 1 collaboration

Sophie Nambot 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Nada Houcinat 1 collaboration

Nathalie Marle 1 collaboration

Laetita Lambert 1 collaboration

Philippe Jonveaux 1 collaboration

Bernard Foliguet 1 collaboration

Jean-Pierre Mazutti 1 collaboration

Dominique Gaillard 1 collaboration

Elisabeth Alanio 1 collaboration

Celine Poirisier 1 collaboration

Anne-Sophie Lebre 1 collaboration

Marion Aubert-Lenoir 1 collaboration

Francine Arbez-Gindre 1 collaboration

Philippe Loget 1 collaboration

Melanie Fradin 1 collaboration

Nicole Bigi 1 collaboration

Marie-José Perez 1 collaboration

Anne-Marie Beaufrere 1 collaboration

Sophie Patrier-Sallebert 1 collaboration

Anne-Marie Guerrot 1 collaboration

Anne-Claire Brehin 1 collaboration

James Lespinasse 1 collaboration

Nicole Laurent 1 collaboration

Christophe Philippe 1 collaboration

Julien Thevenon 1 collaboration

Véronique Abadie 1 collaboration

Priscilla Hamiaux 1 collaboration

Stéphanie Ragot 1 collaboration

Gaelle Malecot 1 collaboration

Alexia Burtin 1 collaboration

Frédéric Bilan 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Laurence Vaivre-Douret 1 collaboration

Penelope Jordan 1 collaboration

Guillaume Dorval 1 collaboration

Christelle Arrondel 1 collaboration

Vincent Morinière 1 collaboration

Carole Tournant 1 collaboration

Marie-Pierre Audrezet 1 collaboration

Laurence Michel-Calemard 1 collaboration

Audrey Putoux 1 collaboration

Gaethan Lesca 1 collaboration

Audrey Labalme 1 collaboration

Sophie Scheidecker 1 collaboration

Odile Boute-Benejean 1 collaboration

Nicolas Fontanarosa 1 collaboration

Cécile Jeanpierre 1 collaboration

Sophie Saunier 1 collaboration

Laurence Heidet 1 collaboration

Emmanuelle Szenker-Ravi 1 collaboration

Tim Ott 1 collaboration

Muznah Khatoo 1 collaboration

Anne Moreau de Bellaing 1 collaboration

Wei Xuan Goh 1 collaboration

Yan Ling Chong 1 collaboration

Anja Beckers 1 collaboration

Darshini Kannesan 1 collaboration

Guillaume Louvel 1 collaboration

Priyanka Anujan 1 collaboration

Vydianathan Ravi 1 collaboration

Carine Bonnard 1 collaboration

Patric Schoen 1 collaboration

Mélanie Fradin 1 collaboration

André Megarbane 1 collaboration

Linda Daou 1 collaboration

Ghassan Chehab 1 collaboration

Sylvie Di Filippo 1 collaboration

Caroline Rooryck 1 collaboration

Jean-François Deleuze 1 collaboration

Anne Boland 1 collaboration

Nicolas Arribard 1 collaboration

Rukiye Eker 1 collaboration

Sumanty Tohari 1 collaboration

Alvin Yu-Jin Ng 1 collaboration

Chun Teck Lim 1 collaboration

Birgit Eisenhaber 1 collaboration

Frank Eisenhaber 1 collaboration

Byrappa Venkatesh 1 collaboration

Hugues Roest Crollius 1 collaboration

Christopher T Gordon 1 collaboration

Achim Gossler 1 collaboration

Sudipto Roy 1 collaboration

Martin Blum 1 collaboration

Patrice Bouvagnet 1 collaboration

Bruno Reversade 1 collaboration

Suzanne Chartier 1 collaboration

Edouard Le Guillou 1 collaboration

Caroline Alby 1 collaboration

Anne-Elodie Millischer 1 collaboration

Catherine Caillaud 1 collaboration

Louise Galmiche 1 collaboration

Pascale Sonigo 1 collaboration

Nathalie Boddaert 1 collaboration

Sophie Rondeau 1 collaboration

Christine Bole-Feysot 1 collaboration

Férechté Encha-Razavi 1 collaboration

Bertrand Chesneau 1 collaboration

Félix Fremont 1 collaboration

Jacmine Pechmeja 1 collaboration

Vincent Soler 1 collaboration

Bertrand Isidor 1 collaboration

Hélène Dollfus 1 collaboration

Josseline Kaplan 1 collaboration

Lucas Fares-Taie 1 collaboration

Tiffany Busa 1 collaboration

Sophie Naudion 1 collaboration

Cécile Lesage 1 collaboration

Dominique Thouvenin 1 collaboration

Godelieve Morel 1 collaboration

Clémence Vanlerberghe 1 collaboration

Anne Dieux 1 collaboration

Simon Boussion 1 collaboration

Lucile Pinson 1 collaboration

Guylène Le Meur 1 collaboration

Victor Lambert 1 collaboration

Beatrice Laudier 1 collaboration

Edouard Cottereau 1 collaboration

Carmen Ayuso 1 collaboration

Marta Corton-Pérez 1 collaboration

Laurence Bouneau 1 collaboration

Cédric Le Caignec 1 collaboration

Véronique Gaston 1 collaboration

Claire Jeanton-Scaramouche 1 collaboration

Delphine Dupin-Deguine 1 collaboration

Marguerite Hureaux 1 collaboration

Aurelie Coussement 1 collaboration

Matthieu Egloff 1 collaboration

Giulia Barcia 1 collaboration

Catherine Turleau 1 collaboration

Paolo Zanoni 1 collaboration

Katharina Steindl 1 collaboration

Deepanwita Sengupta 1 collaboration

Pascal Joset 1 collaboration

Angela Bahr 1 collaboration

Heinrich Sticht 1 collaboration

Mariarosaria Lang-Muritano 1 collaboration

Conny M A van Ravenswaaij-Arts 1 collaboration

Marwan Shinawi 1 collaboration

Marisa Andrews 1 collaboration

Isabelle Maystadt 1 collaboration

Newell Belnap 1 collaboration

Valerie Benoit 1 collaboration

Geoffroy Delplancq 1 collaboration

Bert B A de Vries 1 collaboration

Austin Larson 1 collaboration

Jeroen Mourmans 1 collaboration

Katrin Õunap 1 collaboration

Giulia Petrilli 1 collaboration

Rolph Pfundt 1 collaboration

Keri Ramsey 1 collaboration

Lot Snijders Blok 1 collaboration

Patricia G Wheeler 1 collaboration

Marijke R Wevers 1 collaboration

Monica Wojcik 1 collaboration

Markus Zweier 1 collaboration

Or Gozani 1 collaboration

Anita Rauch 1 collaboration

Annie Laquerriere 1 collaboration

Dana Jaber 1 collaboration

Emanuela Abiusi 1 collaboration

Jérome Maluenda 1 collaboration

Dan Mejlachowicz 1 collaboration

Alexandre Vivanti 1 collaboration

Radka Stoeva 1 collaboration

Loic Quevarec 1 collaboration

Flora Nolent 1 collaboration

Valerie Biancalana 1 collaboration

Philippe Latour 1 collaboration

Damien Sternberg 1 collaboration

Florence Petit 1 collaboration

Florent Marguet 1 collaboration

Jerome Bouligand 1 collaboration

Delphine Héron 1 collaboration

Géraldine Viot 1 collaboration

Daniel Amram 1 collaboration

Céline Bellesme 1 collaboration

Martine Bucourt 1 collaboration

Pierre-Simon Jouk 1 collaboration

Suonavy Khung 1 collaboration

Anne-Lise Delezoide 1 collaboration

Arnold Munnich 1 collaboration

Lionel Van Maldergem 1 collaboration

Juliette Piard 1 collaboration

Pierre Landrieu 1 collaboration

Pascaline Letard 1 collaboration

Fanny Pelluard 1 collaboration

Laurence Perrin 1 collaboration

Haluk Topaloglu 1 collaboration

Laetitia Trestard 1 collaboration

Helge Amthor 1 collaboration

Christine Barnerias 1 collaboration

Alexandra Benachi 1 collaboration

Eric Bieth 1 collaboration

Elise Boucher 1 collaboration

Andrée Delahaye-Duriez 1 collaboration

Bruno Eymard 1 collaboration

Dominique Martin-Coignard 1 collaboration

André Mégarbané 1 collaboration

Sandra Mercier 1 collaboration

Luc Rigonnot 1 collaboration

Hanitra Ranjatoelina-Randrianaivo 1 collaboration

Nicoletta Resta 1 collaboration

Helene Verhelst 1 collaboration

Marie Vincent 1 collaboration

Catherine Fallet-Bianco 1 collaboration

Michèle Granier 1 collaboration

Julien Saada 1 collaboration

Marie Gonzales 1 collaboration

Anne Guiochon-Mantel 1 collaboration

Jean-Louis Bessereau 1 collaboration

Marcel Tawk 1 collaboration

Ivo Gut 1 collaboration

Cyril Gitiaux 1 collaboration

Judith Melki 1 collaboration

Leïla Ghesh 1 collaboration

Marie Denis Musquer 1 collaboration

Louise Devisme 1 collaboration

Morgane Stichelbout 1 collaboration

Pascal Vaast 1 collaboration

Anne-Sophie Riteau 1 collaboration

Claudine Le Vaillant 1 collaboration

Norbert Winer 1 collaboration

Madeleine Joubert 1 collaboration

Stéphane Bezieau 1 collaboration

Lyse Ruaud 1 collaboration

Faustine Ageorges 1 collaboration

Christine Bole 1 collaboration

Samir Bouasker 1 collaboration

Nisha Patel 1 collaboration

Rebecca Greenlees 1 collaboration

Diana Wellesley 1 collaboration

Lucas Fares Taie 1 collaboration

Naif A Almontashiri 1 collaboration

Julia Baptista 1 collaboration

Malak Ali Alghamdi 1 collaboration

Sarah Boissel 1 collaboration

Ivan Prokudin 1 collaboration

Samantha Holden 1 collaboration

Hardeep-Singh Mudhar 1 collaboration

Lisa G Riley 1 collaboration

Christina Nassif 1 collaboration

Marguerite Miguet 1 collaboration

Marion Delous 1 collaboration

Sylvain Ernest 1 collaboration

Arif O Khan 1 collaboration

Robyn V Jamieson 1 collaboration

Fowzan S Alkuraya 1 collaboration

Véronique Caron 1 collaboration

Nicola Ragge 1 collaboration

Felix Boschann 1 collaboration

Angelina My-Hoa Ngu 1 collaboration

Elisabeth Meloche 1 collaboration

Sarah Chorfi 1 collaboration

Saquib A Lakhani 1 collaboration

Weizhen Ji 1 collaboration

Laurie Steiner 1 collaboration

Julien Marcadier 1 collaboration

Philip R Jansen 1 collaboration

Laura A van de Pol 1 collaboration

Johanna M van Hagen 1 collaboration

Alvaro Serrano Russi 1 collaboration

Magnus Nordenskjöld 1 collaboration

Ann Nordgren 1 collaboration

Britt-Marie Anderlid 1 collaboration

Corinna Stoltenburg 1 collaboration

Denise Horn 1 collaboration

Anne Drenckhahn 1 collaboration

Peggy Forey 1 collaboration

Vasily Smirnov 1 collaboration

Françoise Ernould 1 collaboration

Alberto Alcantud 1 collaboration

Alicia Coret 1 collaboration

Rosario Ferrer-Avargues 1 collaboration

Siddharth Srivastava 1 collaboration

Shelby Romoser 1 collaboration

Nicole Safina 1 collaboration

Dimah Saade 1 collaboration

James R Lupski 1 collaboration

Daniel G Calame 1 collaboration

Caroline Schluth-Bolard 1 collaboration

Kenneth A Myers 1 collaboration

William B Dobyns 1 collaboration

Caroline Salmon 1 collaboration

Richard Holt 1 collaboration

Frances Elmslie 1 collaboration

Marc Allaire 1 collaboration

Daniil M Prigozhin 1 collaboration

André Tremblay 1 collaboration

Georges Carpentier 1 collaboration

Françoise Denoyelle 1 collaboration

François Djate Delbrah 1 collaboration

Wuttichart Kamolvisit 1 collaboration

Dan Milea 1 collaboration

Véronique Pingault 1 collaboration

Sandrine Touzet-Roumazeille 1 collaboration

Maria Francesca Di Feo 1 collaboration

Ali Oghabian 1 collaboration

Ella Nippala 1 collaboration

Mathias Gautel 1 collaboration

Heinz Jungbluth 1 collaboration

Francesca Forzano 1 collaboration

Edoardo Malfatti 1 collaboration

Claudia Castiglioni 1 collaboration

Ilona Krey 1 collaboration

David Gomez Andres 1 collaboration

Angela F Brady 1 collaboration

Anna Cereda 1 collaboration

Lidia Pezzani 1 collaboration

Daniel Natera De Benito 1 collaboration

Andres Nascimiento Osorio 1 collaboration

Berta Estévez Arias 1 collaboration

Sergei A Kurbatov 1 collaboration

Sheela Nampoothiri 1 collaboration

Erin Ryan 1 collaboration

Michelle Morrow 1 collaboration

Svetlana Gorokhova 1 collaboration

Brigitte Chabrol 1 collaboration

Juha Sinisalo 1 collaboration

Heli Tolppanen 1 collaboration

Johanna Tolva 1 collaboration

Francina Munell 1 collaboration

Jessica Camacho Soriano 1 collaboration

Maria Angeles Sanchez Duran 1 collaboration

Mridul Johari 1 collaboration

Homa Tajsharghi 1 collaboration

Peter Hackman 1 collaboration

Bjarne Udd 1 collaboration

Marco Savarese 1 collaboration

Affiliations

Publications (30)

Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.

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

First reports of fetal SMARCC1 related hydrocephalus.

A cell fate decision map reveals abundant direct neurogenesis bypassing intermediate progenitors in the human developing neocortex.

Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2.

Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

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

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

Clinical heterogeneity of NADSYN1-associated VCRL syndrome.

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

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

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

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

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

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

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

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

Bi-allelic variants in

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

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

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Réseau de co-auteurs