Brigitte Gilbert-Dussardier

Sylvie Odent 12 collaborations

Bertrand Isidor 10 collaborations

Séverine Audebert-Bellanger 8 collaborations

Annick Toutain 8 collaborations

Dominique Bonneau 7 collaborations

Frédéric Bilan 6 collaborations

None None 6 collaborations

Anne-Sophie Denommé-Pichon 6 collaborations

Florence Petit 5 collaborations

Laurence Faivre 5 collaborations

Anne-Marie Guerrot 5 collaborations

Boris Keren 5 collaborations

Benjamin Cogné 5 collaborations

Richard Redon 5 collaborations

Stéphane Bézieau 5 collaborations

Massimiliano Rossi 5 collaborations

Elise Schaefer 4 collaborations

James Lespinasse 4 collaborations

Mathilde Nizon 4 collaborations

Damien Sanlaville 4 collaborations

Ingrid M Wentzensen 4 collaborations

Stanislas Lyonnet 4 collaborations

Sébastien Küry 4 collaborations

Elise Brischoux-Boucher 4 collaborations

Nicolas Chatron 4 collaborations

Patrick Edery 4 collaborations

Marlène Rio 4 collaborations

Gaetan Lesca 4 collaborations

Hélène Dollfus 3 collaborations

Sophie Blesson 3 collaborations

Benjamin Dauriat 3 collaborations

Frederic Bilan 3 collaborations

Mélanie Fradin 3 collaborations

David Geneviève 3 collaborations

Wendy K Chung 3 collaborations

Marjolaine Willems 3 collaborations

Alice Goldenberg 3 collaborations

Cédric Le Caignec 3 collaborations

Marianne Till 3 collaborations

Fabienne Prieur 3 collaborations

Thomas Besnard 3 collaborations

Kirsty McWalter 3 collaborations

Amber Begtrup 3 collaborations

Wallid Deb 3 collaborations

Jeanne Amiel 3 collaborations

Jill A Rosenfeld 3 collaborations

Evan E Eichler 3 collaborations

Sophie Dupuis-Girod 3 collaborations

Frédéric Laumonnier 3 collaborations

Cyril Mignot 3 collaborations

Alexandra Afenjar 3 collaborations

Estelle Colin 3 collaborations

Didier Lacombe 3 collaborations

Laurent Pasquier 3 collaborations

Audrey Putoux 3 collaborations

Renaud Touraine 3 collaborations

Louise Devisme 2 collaborations

Lucile Pinson 2 collaborations

Caroline Rooryck-Thambo 2 collaborations

Nolwenn Jean-Marçais 2 collaborations

Laurence Pacot 2 collaborations

Ingrid Laurendeau 2 collaborations

Audrey Briand-Suleau 2 collaborations

Audrey Coustier 2 collaborations

Béatrice Parfait 2 collaborations

Michel Vidaud 2 collaborations

Dominique Vidaud 2 collaborations

Eric Pasmant 2 collaborations

Gwenael Le Guyader 2 collaborations

Claire Beneteau 2 collaborations

Matthieu Egloff 2 collaborations

Fanny Morice-Picard 2 collaborations

Sabine Sigaudy 2 collaborations

Yline Capri 2 collaborations

Radka Stoeva 2 collaborations

Gaël Nicolas 2 collaborations

Marie-Ange Delrue 2 collaborations

Rebecca Hernan 2 collaborations

Andres Hernandez-Garcia 2 collaborations

James R Lupski 2 collaborations

Daryl A Scott 2 collaborations

Chantal Missirian 2 collaborations

Charles Coutton 2 collaborations

Véronique Satre 2 collaborations

Florence Amblard 2 collaborations

Jérome Toutain 2 collaborations

Kévin Uguen 2 collaborations

Vandana Shashi 2 collaborations

Yuri A Zarate 2 collaborations

Brina Daniels 2 collaborations

Kyle Retterer 2 collaborations

Eric W Klee 2 collaborations

Anne Guimier 2 collaborations

Sylvia Redon 2 collaborations

Marine Legendre 2 collaborations

Ralitza Gavrilova 2 collaborations

Claire Bardel 2 collaborations

Jean-Christophe Saurin 2 collaborations

Evelyne Decullier 2 collaborations

Gaëtan Lesca 2 collaborations

Virginie Vignard 2 collaborations

Grazia M S Mancini 2 collaborations

Hong Li 2 collaborations

Rhonda E Schnur 2 collaborations

Médéric Jeanne 2 collaborations

Martine Doco-Fenzy 2 collaborations

Erin Torti 2 collaborations

Raymond J Louie 2 collaborations

Marie-Laure Vuillaume 2 collaborations

Anne Boland 2 collaborations

Odile Boute 2 collaborations

Perrine Charles 2 collaborations

Valérie Cormier-Daire 2 collaborations

Jean-François Deleuze 2 collaborations

Florence Demurger 2 collaborations

Christel Depienne 2 collaborations

Evan Gouy 2 collaborations

Delphine Héron 2 collaborations

Alma Kuechler 2 collaborations

Jonathan Levy 2 collaborations

Amélie Piton 2 collaborations

Sophie Rondeau 2 collaborations

Frederic Tran Mau-Them 2 collaborations

Marie Vincent 2 collaborations

Lydie Burglen 2 collaborations

Marie-Pierre Cordier 2 collaborations

Fabienne Giuliano 2 collaborations

Sébastien Moutton 2 collaborations

Nicole Philip 2 collaborations

Caroline Schluth-Bolard 2 collaborations

Pierre-Antoine Rollat-Farnier 2 collaborations

Julie Masson 2 collaborations

Linda Pons 2 collaborations

Alain Verloes 2 collaborations

Audrey Labalme 2 collaborations

Kendra Hoekzema 2 collaborations

Lindsay Rhodes 2 collaborations

Xavier Le Guillou 2 collaborations

Laura Mary 1 collaboration

Kirsley Chennen 1 collaboration

Corinne Stoetzel 1 collaboration

Manuela Antin 1 collaboration

Anne Leuvrey 1 collaboration

Elsa Nourisson 1 collaboration

Elisabeth Alanio-Detton 1 collaboration

Maria C Antal 1 collaboration

Tania Attié-Bitach 1 collaboration

Patrice Bouvagnet 1 collaboration

Raymonde Bouvier 1 collaboration

Annie Buenerd 1 collaboration

Alix Clémenson 1 collaboration

Bernard Gasser 1 collaboration

Fabien Guimiot 1 collaboration

Philippe Khau Van Kien 1 collaboration

Brigitte Leroy 1 collaboration

Philippe Loget 1 collaboration

Jelena Martinovic 1 collaboration

Fanny Pelluard 1 collaboration

Marie-Josée Perez 1 collaboration

Olivier Poch 1 collaboration

Jean Muller 1 collaboration

Evgeny Z Kvon 1 collaboration

Yiwen Zhu 1 collaboration

Guy Kelman 1 collaboration

Catherine S Novak 1 collaboration

Ingrid Plajzer-Frick 1 collaboration

Momoe Kato 1 collaboration

Tyler H Garvin 1 collaboration

Quan Pham 1 collaboration

Anne N Harrington 1 collaboration

Riana D Hunter 1 collaboration

Janeth Godoy 1 collaboration

Eman M Meky 1 collaboration

Jennifer A Akiyama 1 collaboration

Veena Afzal 1 collaboration

Stella Tran 1 collaboration

Fabienne Escande 1 collaboration

Sanjarbek Hudaiberdiev 1 collaboration

Ivan Ovcharenko 1 collaboration

Matthew B Dobbs 1 collaboration

Christina A Gurnett 1 collaboration

Sylvie Manouvrier-Hanu 1 collaboration

Axel Visel 1 collaboration

Diane E Dickel 1 collaboration

Len A Pennacchio 1 collaboration

J Lerat 1 collaboration

C Magdelaine 1 collaboration

A Lunati 1 collaboration

H Dzugan 1 collaboration

C Dejoie 1 collaboration

M Rego 1 collaboration

P Beze Beyrie 1 collaboration

E Bieth 1 collaboration

P Calvas 1 collaboration

P Cintas 1 collaboration

A Delaubrier 1 collaboration

F Demurger 1 collaboration

B Gilbert-Dussardier 1 collaboration

C Goizet 1 collaboration

H Journel 1 collaboration

F Laffargue 1 collaboration

L Magy 1 collaboration

F Taithe 1 collaboration

A Toutain 1 collaboration

J A Urtizberea 1 collaboration

F Sturtz 1 collaboration

A S Lia 1 collaboration

Cyril Burin des Roziers 1 collaboration

Théodora Mayard 1 collaboration

Camille Tlemsani 1 collaboration

Quentin Thomas 1 collaboration

Diana Rodriguez 1 collaboration

Yvon-Gauthier Muller 1 collaboration

Catherine Yardin 1 collaboration

Christian Derancourt 1 collaboration

Tanguy Niclass 1 collaboration

Madeleine Joubert 1 collaboration

Antonio Pizzuti 1 collaboration

Maria Grazia Giuffrida 1 collaboration

Laura Bernardini 1 collaboration

Audrey Sabbagh 1 collaboration

Théodora Maillard 1 collaboration

Cécile Barbance 1 collaboration

Olga O Glazunova 1 collaboration

Lena Damaj 1 collaboration

Valérie Layet 1 collaboration

Chloé Quelin 1 collaboration

Frédérique Audic 1 collaboration

Sophie Julia 1 collaboration

Marie-Christine Vantyghem 1 collaboration

Magali Drouard 1 collaboration

Marilyn Lackmy 1 collaboration

Bruno Leheup 1 collaboration

Yves Alembik 1 collaboration

Alexia Lemaire 1 collaboration

Patrick Nitschké 1 collaboration

Anne Dieux Coeslier 1 collaboration

Eugénie Mutez 1 collaboration

Alain Taieb 1 collaboration

Hala Nasser 1 collaboration

Lyse Ruaud 1 collaboration

Sylvie Bourthoumieu 1 collaboration

Geoffroy Hickman 1 collaboration

Juliette Mazereeuw-Hautier 1 collaboration

Arnaud Jannic 1 collaboration

Salah Ferkal 1 collaboration

None Members Of The Nf France Network 1 collaboration

Pierre Wolkenstein 1 collaboration

Mauro Longoni 1 collaboration

Julie Wells 1 collaboration

Richard S Maser 1 collaboration

Eric L Bogenschutz 1 collaboration

Matthew J Dysart 1 collaboration

Hannah T M Contreras 1 collaboration

Frederic Frénois 1 collaboration

Barbara R Pober 1 collaboration

Robin D Clark 1 collaboration

Philip F Giampietro 1 collaboration

Hilger H Ropers 1 collaboration

Hao Hu 1 collaboration

Maria Loscertales 1 collaboration

Richard Wagner 1 collaboration

Xingbin Ai 1 collaboration

Harrison Brand 1 collaboration

Anne-Sophie Jourdain 1 collaboration

David J McCulley 1 collaboration

Lu Qiao 1 collaboration

Julia Wynn 1 collaboration

Tiana M Scott 1 collaboration

Daniel G Calame 1 collaboration

Zeynep Coban-Akdemir 1 collaboration

Patricia Hernandez 1 collaboration

Hagith Yonath 1 collaboration

Yufeng Shen 1 collaboration

Carol J Bult 1 collaboration

Patricia K Donahoe 1 collaboration

Frances A High 1 collaboration

Guillaume Jedraszak 1 collaboration

Florence Jobic 1 collaboration

Aline Receveur 1 collaboration

Busa Tiffany 1 collaboration

Josette Lucas 1 collaboration

Christele Dubourg 1 collaboration

Sophie Scheidecker 1 collaboration

Géraldine Joly-Helas 1 collaboration

Pascal Chambon 1 collaboration

Albert David 1 collaboration

Gaëlle Vieville 1 collaboration

Radu Harbuz 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Cindy Colson 1 collaboration

Joris Andrieux 1 collaboration

Sophie Naudion 1 collaboration

Caroline Rooryck 1 collaboration

Bénédicte de Fréminville 1 collaboration

Valérie Cormier Daire 1 collaboration

Daniel Amram 1 collaboration

Pascale Kleinfinger 1 collaboration

Matthias B Schulze 1 collaboration

Gisela Raabe-Meyer 1 collaboration

Carolina Courage 1 collaboration

Johannes Lemke 1 collaboration

Eunice G Stefanou 1 collaboration

Thomaidis Loretta 1 collaboration

Manolakos Emmanouil 1 collaboration

Sophia Kitsiou Tzeli 1 collaboration

Henryka Sodowska 1 collaboration

Jasen Anderson 1 collaboration

Adayapalam Nandini 1 collaboration

Henri Copin 1 collaboration

Loïc Garçon 1 collaboration

Thomas Liehr 1 collaboration

Gilles Morin 1 collaboration

Gara Samara Brajadenta 1 collaboration

Alain Kitzis 1 collaboration

Vincent Thoreau 1 collaboration

Sophie Ehresmann 1 collaboration

Eliane Beauregard-Lacroix 1 collaboration

Justine Rousseau 1 collaboration

Thomas Garcia 1 collaboration

Slavé Petrovski 1 collaboration

Shiri Avni 1 collaboration

Patrick R Blackburn 1 collaboration

Stephan J Sanders 1 collaboration

Jacqueline Harris 1 collaboration

Julie S Cohen 1 collaboration

Moira Blyth 1 collaboration

Anna Lehman 1 collaboration

Jonathan Berg 1 collaboration

Mindy H Li 1 collaboration

Usha Kini 1 collaboration

Shelagh Joss 1 collaboration

Charlotte von der Lippe 1 collaboration

Christopher T Gordon 1 collaboration

Jennifer B Humberson 1 collaboration

Laurie Robak 1 collaboration

Vernon R Sutton 1 collaboration

Cara M Skraban 1 collaboration

Jennifer J Johnston 1 collaboration

Annapurna Poduri 1 collaboration

Magnus Nordenskjöld 1 collaboration

Erica H Gerkes 1 collaboration

Ernie M H F Bongers 1 collaboration

Christian Gilissen 1 collaboration

Malin Kvarnung 1 collaboration

Kevin P Lally 1 collaboration

Peggy A Kulch 1 collaboration

Nicholas Stong 1 collaboration

Julie McGaughran 1 collaboration

Kristian Tveten 1 collaboration

Jennifer Sullivan 1 collaboration

Madeleine R Geisheker 1 collaboration

Asbjorg Stray-Pedersen 1 collaboration

Jennifer M Tarpinian 1 collaboration

Julie C Sapp 1 collaboration

Jacob Zyskind 1 collaboration

Øystein L Holla 1 collaboration

Emma Bedoukian 1 collaboration

Francesca Filippini 1 collaboration

Arnaud Picard 1 collaboration

Øyvind L Busk 1 collaboration

Jaya Punetha 1 collaboration

Rolph Pfundt 1 collaboration

Anna Lindstrand 1 collaboration

Ann Nordgren 1 collaboration

Fayth Kalb 1 collaboration

Megha Desai 1 collaboration

Ashley Harmon Ebanks 1 collaboration

Shalini N Jhangiani 1 collaboration

Tammie Dewan 1 collaboration

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Aida Telegrafi 1 collaboration

Elaine H Zackai 1 collaboration

Xiaofei Song 1 collaboration

Xénia Latypova 1 collaboration

Caitlin Troyer 1 collaboration

Kerri Whitlock 1 collaboration

Oana Caluseriu 1 collaboration

Marine I Murphree 1 collaboration

Pavel N Pichurin 1 collaboration

Katherine Agre 1 collaboration

Tuula Rinne 1 collaboration

Meredith Park 1 collaboration

Catherine Shain 1 collaboration

Erin L Heinzen 1 collaboration

Rui Xiao 1 collaboration

Leslie G Biesecker 1 collaboration

Dan Lowenstein 1 collaboration

Jennifer E Posey 1 collaboration

Claude Férec 1 collaboration

Xiang-Jiao Yang 1 collaboration

Holly A F Stessman 1 collaboration

Christoffer Nellaker 1 collaboration

Yaping Yang 1 collaboration

David B Goldstein 1 collaboration

Francois Bolduc 1 collaboration

Philippe M Campeau 1 collaboration

Sophie Giraud 1 collaboration

Marie-France Carette 1 collaboration

Sophie Riviere 1 collaboration

Mélanie Eyries 1 collaboration

Sylvie Patri 1 collaboration

Alain Calender 1 collaboration

Frédéric Ebstein 1 collaboration

Alice Mollé 1 collaboration

Ming-Kang Lee 1 collaboration

Tiphaine Hery 1 collaboration

Jacques C Giltay 1 collaboration

Hagar Mor-Shaked 1 collaboration

Cynthia Fourgeux 1 collaboration

Frans W Verheijen 1 collaboration

Eva Faurie 1 collaboration

Rachel Schot 1 collaboration

Cathy A Stevens 1 collaboration

Daphne J Smits 1 collaboration

Eileen Barr 1 collaboration

Ruth Sheffer 1 collaboration

Jonathan A Bernstein 1 collaboration

Chandler L Stimach 1 collaboration

Eliana Kovitch 1 collaboration

Kelly Schoch 1 collaboration

Whitney Smith 1 collaboration

Richard H van Jaarsveld 1 collaboration

Anna C E Hurst 1 collaboration

Kirstin Smith 1 collaboration

Evan H Baugh 1 collaboration

Suzanne G Bohm 1 collaboration

Emílie Vyhnálková 1 collaboration

Lukáš Ryba 1 collaboration

Capucine Delnatte 1 collaboration

Juanita Neira 1 collaboration

Seth I Berger 1 collaboration

Ann C M Smith 1 collaboration

Franck Bourdeaut 1 collaboration

Marc-Henri Stern 1 collaboration

Elke Krüger 1 collaboration

Raphaël Margueron 1 collaboration

Jeremie Poschmann 1 collaboration

Amélie Cordovado 1 collaboration

Martina Schaettin 1 collaboration

Veranika Panasenkava 1 collaboration

Lance Rodan 1 collaboration

Keri Ramsey 1 collaboration

Vinodh Narayanan 1 collaboration

Julie R Jones 1 collaboration

Eloise J Prijoles 1 collaboration

Wendy G Mitchell 1 collaboration

Jillian R Ozmore 1 collaboration

Kali Juliette 1 collaboration

Elizabeth A Normand 1 collaboration

Leslie Granger 1 collaboration

Andrea K Petersen 1 collaboration

Margaret G Au 1 collaboration

Juliann P Matheny 1 collaboration

Chanika Phornphutkul 1 collaboration

Mary-Kathryn Chambers 1 collaboration

Joaquín-Alejandro Fernández-Ramos 1 collaboration

Eduardo López-Laso 1 collaboration

Michael C Kruer 1 collaboration

Somayeh Bakhtiari 1 collaboration

Marcella Zollino 1 collaboration

Manuela Morleo 1 collaboration

Giuseppe Marangi 1 collaboration

Davide Mei 1 collaboration

Tiziana Pisano 1 collaboration

Renzo Guerrini 1 collaboration

Anna Childers 1 collaboration

David B Everman 1 collaboration

Betrand Isidor 1 collaboration

Esther T Stoeckli 1 collaboration

Thomas Husson 1 collaboration

François Lecoquierre 1 collaboration

Anne-Claire Richard 1 collaboration

Catherine Badens 1 collaboration

Varoona Bizaoui 1 collaboration

Marie-Noëlle Bonnet-Dupeyron 1 collaboration

Céline Bonnet 1 collaboration

Marie Bournez 1 collaboration

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Roseline Caumes 1 collaboration

Nicolas Chassaing 1 collaboration

Rodolphe Dard 1 collaboration

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Aurore Garde 1 collaboration

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Inès Harzalla 1 collaboration

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Luisa Marsili 1 collaboration

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Robert Olaso 1 collaboration

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Marc Planes 1 collaboration

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Bin Yu 1 collaboration

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Marie McDonald 1 collaboration

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Eléonore Viora-Dupont 1 collaboration

Ibrahim Elsharkawi 1 collaboration

Jorge L Granadillo 1 collaboration

Julie Neidich 1 collaboration

Celia Azevedo Soares 1 collaboration

Natáliya Tkachenko 1 collaboration

Shivarajan M Amudhavalli 1 collaboration

Kendra Engleman 1 collaboration

Stéphane Bezieau 1 collaboration

Cedric Le Marechal 1 collaboration

Claude Ferec 1 collaboration

Elena Repnikova 1 collaboration

Yang Cao 1 collaboration

Giuliana Giannuzzi 1 collaboration

Katrin Mannik 1 collaboration

Chiara Auwerx 1 collaboration

Sylvain Pradervand 1 collaboration

Gilles Willemin 1 collaboration

Xander Nuttle 1 collaboration

Jacqueline Chrast 1 collaboration

Marie C Sadler 1 collaboration

Eleonora Porcu 1 collaboration

Yann Herault 1 collaboration

Zoltan Kutalik 1 collaboration

Alexandre Reymond 1 collaboration

Sophie Rivière 1 collaboration

Christian Lavigne 1 collaboration

Anne-Emmanuelle Fargeton 1 collaboration

Vincent Grobost 1 collaboration

Vanessa Leguy-Seguin 1 collaboration

Hélène Maillard 1 collaboration

Shirine Mohamed 1 collaboration

Adeline Roux 1 collaboration

Lorraine Bernard 1 collaboration

Nicolas Saroul 1 collaboration

Frédéric Faure 1 collaboration

Cesar Cartier 1 collaboration

Romain Altwegg 1 collaboration

Laurent Laccourreye 1 collaboration

Frédéric Oberti 1 collaboration

Marjolaine Beaudoin 1 collaboration

Carole Dhelens 1 collaboration

Céline Desvignes 1 collaboration

Nicolas Azzopardi 1 collaboration

Gilles Paintaud 1 collaboration

Ruben Hermann 1 collaboration

Thierry Chinet 1 collaboration

Caroline Foucart 1 collaboration

Gwenaël Le Guyader 1 collaboration

Valérie Vequeau-Goua 1 collaboration

Burak Tepe 1 collaboration

Erica L Macke 1 collaboration

Marcello Niceta 1 collaboration

Monika Weisz Hubshman 1 collaboration

Oguz Kanca 1 collaboration

Laura Schultz-Rogers 1 collaboration

G Bradley Schaefer 1 collaboration

Jorge Luis Granadillo De Luque 1 collaboration

Daniel J Wegner 1 collaboration

Benjamin Cogne 1 collaboration

Eric J Wagner 1 collaboration

Lynn S Pais 1 collaboration

Jennifer E Neil 1 collaboration

Ganeshwaran H Mochida 1 collaboration

Christopher A Walsh 1 collaboration

Nurit Magal 1 collaboration

Valerie Drasinover 1 collaboration

Mordechai Shohat 1 collaboration

Tanya Schwab 1 collaboration

Chris Schmitz 1 collaboration

Karl Clark 1 collaboration

Anthony Fine 1 collaboration

Brendan Lanpher 1 collaboration

Pierre Blanc 1 collaboration

Dora Steel 1 collaboration

Manju A Kurian 1 collaboration

Prab Prabhakar 1 collaboration

Sophie Gößwein 1 collaboration

Nataliya Di Donato 1 collaboration

Enrico S Bertini 1 collaboration

Michael F Wangler 1 collaboration

Shinya Yamamoto 1 collaboration

Marco Tartaglia 1 collaboration

Hugo J Bellen 1 collaboration

Brigitte Gilbert-Dussardier

Affiliations

Publications (32)

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

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.

One

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Severe Phenotype in Patients with Large Deletions of

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Growth charts in Kabuki syndrome 1.

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

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial.

Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial.

Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

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