Bruno Leheup

Céline Bonnet 11 collaborations

Mathilde Renaud 6 collaborations

Jean-Louis Guéant 5 collaborations

Laëtitia Lambert 5 collaborations

Sylvie Odent 5 collaborations

Laurence Faivre 5 collaborations

David Geneviève 4 collaborations

Abderrahim Oussalah 4 collaborations

Valérie Cormier-Daire 4 collaborations

Didier Lacombe 4 collaborations

François Feillet 4 collaborations

Emmanuelle Schmitt 4 collaborations

Natacha Dreumont 4 collaborations

Sophie Julia 3 collaborations

Florence Petit 3 collaborations

Mélanie Fradin 3 collaborations

Laetitia Lambert 3 collaborations

Christophe Philippe 3 collaborations

Jean-Marie Ravel 3 collaborations

Emeline Renard 3 collaborations

Guillaume Jondeau 3 collaborations

Aurélie Becker 3 collaborations

Pauline Mosca 3 collaborations

Sophie Naudion 3 collaborations

Bertrand Isidor 3 collaborations

Alice Goldenberg 3 collaborations

Kirsty McWalter 2 collaborations

Fanny Morice-Picard 2 collaborations

Chloé Quelin 2 collaborations

Hélène Dollfus 2 collaborations

Anne-Marie Guerrot 2 collaborations

Yline Capri 2 collaborations

Lyse Ruaud 2 collaborations

Mathilde Nizon 2 collaborations

Gaël Nicolas 2 collaborations

Natacha Sloboda 2 collaborations

Ange-Line Bruel 2 collaborations

Frédéric Tran Mau-Them 2 collaborations

Olivier Klein 2 collaborations

Régis Coutant 2 collaborations

Jamel Chelly 2 collaborations

Sébastien Moutton 2 collaborations

Geneviève Baujat 2 collaborations

Caroline Michot 2 collaborations

Julien Van Gils 2 collaborations

Élise Schaefer 2 collaborations

Rosa-Maria Guéant-Rodriguez 2 collaborations

Thomas Edouard 2 collaborations

Olivier Milleron 2 collaborations

Laurence Bal 2 collaborations

Sophie Dupuis-Girod 2 collaborations

Yves Dulac 2 collaborations

Virginie Carmignac 2 collaborations

Émeline Renard 2 collaborations

Geneviève Lefort 2 collaborations

Mylène Dexheimer 2 collaborations

Philippe Jonveaux 2 collaborations

Julien Thevenon 2 collaborations

Marion Wandzel 2 collaborations

Virginie Roth 2 collaborations

Yannis Duffourd 2 collaborations

Pauline Arnaud 2 collaborations

Nadine Hanna 2 collaborations

Catherine Boileau 2 collaborations

B Leheup 2 collaborations

Elise Schaefer 2 collaborations

Myriam Bronner 2 collaborations

Annick Toutain 2 collaborations

François Lecoquierre 2 collaborations

Arnold Munnich 2 collaborations

Stanislas Lyonnet 2 collaborations

Patrick Collignon 2 collaborations

Laurence Perrin 2 collaborations

Audrey Putoux 2 collaborations

Elisabeth Sarrazin 2 collaborations

Christine Coubes 2 collaborations

Cyril Mignot 2 collaborations

Amélie Piton 2 collaborations

Bradley Bowles 1 collaboration

Alejandro Ferrer 1 collaboration

Carla J Nishimura 1 collaboration

Filippo Pinto E Vairo 1 collaboration

Tristan Rey 1 collaboration

Jennifer Sullivan 1 collaboration

Kelly Schoch 1 collaboration

Nicholas Stong 1 collaboration

Emanuele Agolini 1 collaboration

Dario Cocciadiferro 1 collaboration

Abigail Williams 1 collaboration

Alex Cummings 1 collaboration

Sara Loddo 1 collaboration

Silvia Genovese 1 collaboration

Chelsea Roadhouse 1 collaboration

None None 1 collaboration

Ingrid M Wentzensen 1 collaboration

Chumei Li 1 collaboration

Dusica Babovic-Vuksanovic 1 collaboration

Brendan C Lanpher 1 collaboration

Maria Lisa Dentici 1 collaboration

Arun Ankala 1 collaboration

J Austin Hamm 1 collaboration

Bruno Dallapiccola 1 collaboration

Francesca Clementina Radio 1 collaboration

Vandana Shashi 1 collaboration

Benedicte Gérard 1 collaboration

Agnes Bloch-Zupan 1 collaboration

Richard J Smith 1 collaboration

Eric W Klee 1 collaboration

Laurence Pacot 1 collaboration

Dominique Vidaud 1 collaboration

Audrey Sabbagh 1 collaboration

Ingrid Laurendeau 1 collaboration

Audrey Briand-Suleau 1 collaboration

Audrey Coustier 1 collaboration

Théodora Maillard 1 collaboration

Cécile Barbance 1 collaboration

Sabine Sigaudy 1 collaboration

Olga O Glazunova 1 collaboration

Lena Damaj 1 collaboration

Valérie Layet 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Frédérique Audic 1 collaboration

James Lespinasse 1 collaboration

Marie-Christine Vantyghem 1 collaboration

Magali Drouard 1 collaboration

Marilyn Lackmy 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

Benjamin Dauriat 1 collaboration

Sylvie Bourthoumieu 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Radka Stoeva 1 collaboration

Geoffroy Hickman 1 collaboration

Juliette Mazereeuw-Hautier 1 collaboration

Arnaud Jannic 1 collaboration

Salah Ferkal 1 collaboration

Béatrice Parfait 1 collaboration

Michel Vidaud 1 collaboration

None Members Of The Nf France Network 1 collaboration

Pierre Wolkenstein 1 collaboration

Eric Pasmant 1 collaboration

Viorica Ciorna 1 collaboration

Vladimir Gomola 1 collaboration

Jean-Louis Lemelle 1 collaboration

Marie-Christine Camoin-Schweitzer 1 collaboration

Marie Magnavacca 1 collaboration

Carole Legagneur 1 collaboration

Marie-Laure Ezsto 1 collaboration

Marc Nicolino 1 collaboration

Jean-Pierre Salles 1 collaboration

Jorge Luis Granadillo 1 collaboration

Alexander P A Stegmann 1 collaboration

Hui Guo 1 collaboration

Kun Xia 1 collaboration

Brad Angle 1 collaboration

Kelly Bontempo 1 collaboration

Judith D Ranells 1 collaboration

Patricia Newkirk 1 collaboration

Carrie Costin 1 collaboration

Joleen Viront 1 collaboration

Constanze T Stumpel 1 collaboration

Margje Sinnema 1 collaboration

Bianca Panis 1 collaboration

Rolph Pfundt 1 collaboration

Ingrid P C Krapels 1 collaboration

Merel Klaassens 1 collaboration

Joost Nicolai 1 collaboration

Jinliang Li 1 collaboration

Yuwu Jiang 1 collaboration

Elysa Marco 1 collaboration

Ana Canton 1 collaboration

Ana Claudia Latronico 1 collaboration

Luciana Montenegro 1 collaboration

Celine Bonnet 1 collaboration

Shivarajan M Amudhavalli 1 collaboration

Caitlin E Lawson 1 collaboration

Aida Telegrafi 1 collaboration

Richard Pearson 1 collaboration

Malin Kvarnung 1 collaboration

Xia Wang 1 collaboration

Weimin Bi 1 collaboration

Jill Anne Rosenfeld 1 collaboration

Marwan Shinawi 1 collaboration

Mehdi Benkirane 1 collaboration

Nadège Calmels 1 collaboration

Cecilia Marelli 1 collaboration

Fabienne Ory-Magne 1 collaboration

Claire Ewenczyk 1 collaboration

Yosra Halleb 1 collaboration

François Tison 1 collaboration

Claire Lecocq 1 collaboration

Guillaume Pische 1 collaboration

Philippe Casenave 1 collaboration

Annabelle Chaussenot 1 collaboration

Solène Frismand 1 collaboration

Louise Tyvaert 1 collaboration

Lise Larrieu 1 collaboration

Morgane Pointaux 1 collaboration

Nathalie Drouot 1 collaboration

Carine Bossenmeyer-Pourié 1 collaboration

Mathieu Anheim 1 collaboration

Christine Tranchant 1 collaboration

Michel Koenig 1 collaboration

Melissa Rieger 1 collaboration

Sarah Verheyen 1 collaboration

Katharina Steindl 1 collaboration

Bernt Popp 1 collaboration

Beatrice Oneda 1 collaboration

Anita Rauch 1 collaboration

André Reis 1 collaboration

Mandy Krumbiegel 1 collaboration

Ulrike Hüffmeier 1 collaboration

Maëlle Charpié 1 collaboration

Perrine Brunelle 1 collaboration

Eugénie Koumakis 1 collaboration

Zagorka Pejin 1 collaboration

Graziella Pinto 1 collaboration

Sophie Monnot 1 collaboration

Edward V Quadros 1 collaboration

Sebastien Hascoet 1 collaboration

Julie Plaisancie 1 collaboration

Florence Arnoult 1 collaboration

Chantal Stheneur 1 collaboration

Bertrand Chevallier 1 collaboration

Cécile Zordan 1 collaboration

Jean-Bernard Ruidavets 1 collaboration

Philippe Acar 1 collaboration

Jean Ferrieres 1 collaboration

Mikaël Agopiantz 1 collaboration

Arthur Sorlin 1 collaboration

Pierre Vabres 1 collaboration

Catherine Malaplate-Armand 1 collaboration

Catherine Diligent 1 collaboration

Guillaume Gauchotte 1 collaboration

Jean Muller 1 collaboration

Thomas Remen 1 collaboration

Lucie Levaillant 1 collaboration

Natacha Bouhours-Nouet 1 collaboration

Frédéric Illouz 1 collaboration

Jessica Amsellem Jager 1 collaboration

Anne Bachelot 1 collaboration

Pascal Barat 1 collaboration

Sabine Baron 1 collaboration

Candace Bensignor 1 collaboration

Aude Brac De La Perriere 1 collaboration

Yasmine Braik Djellas 1 collaboration

Morgane Caillot 1 collaboration

Emmanuelle Caldagues 1 collaboration

Marie-Neige Campas 1 collaboration

Marylène Caquard 1 collaboration

Audrey Cartault 1 collaboration

Julie Cheignon 1 collaboration

Anne Decrequy 1 collaboration

Brigitte Delemer 1 collaboration

Katherine Dieckmann 1 collaboration

Aurélie Donzeau 1 collaboration

Emilie Doye 1 collaboration

Mélanie Gaudillière 1 collaboration

Frédérique Gatelais 1 collaboration

Magali Gorce 1 collaboration

Isabelle Hazart 1 collaboration

Nada Houcinat 1 collaboration

Laure Houdon 1 collaboration

Marielle Ister-Salome 1 collaboration

Lucie Jozwiak 1 collaboration

Patrick Jeannoel 1 collaboration

Francois Labarthe 1 collaboration

Anne-Sophie Lambert 1 collaboration

Christine Lefevre 1 collaboration

Clara Leroy 1 collaboration

Benedicte Maisonneuve 1 collaboration

Isis Marchand 1 collaboration

Emeline Marquant 1 collaboration

Matthias Muszlak 1 collaboration

Letitia Pantalone 1 collaboration

Sandra Pochelu 1 collaboration

Catherine Radet 1 collaboration

Peggy Renoult-Pierre 1 collaboration

Rachel Reynaud 1 collaboration

Stéphanie Rouleau 1 collaboration

Cécile Teinturier 1 collaboration

Caroline Turlotte 1 collaboration

Aline Valle 1 collaboration

Melody Vierge 1 collaboration

Carine Villanueva 1 collaboration

Alban Ziegler 1 collaboration

Xavier Dieu 1 collaboration

Nathalie Bouzamondo 1 collaboration

Patrice Rodien 1 collaboration

Delphine Prunier-Mirebeau 1 collaboration

Albin Blanc 1 collaboration

Hanna Safraou 1 collaboration

Florence Muller 1 collaboration

Julie D Colne 1 collaboration

Matheus Castro 1 collaboration

Jullian Savatt 1 collaboration

Adriano Burcheri 1 collaboration

Christophe Nemos 1 collaboration

Louise Benarroch 1 collaboration

Mélodie Aubart 1 collaboration

Patrice Bouvagnet 1 collaboration

Tiffany Busa 1 collaboration

Laurent Gouya 1 collaboration

Maud Langeois 1 collaboration

Maria Tchitchinadze 1 collaboration

Jacques Ropers 1 collaboration

M G Bah 1 collaboration

D Rodriguez 1 collaboration

C Cazeneuve 1 collaboration

F Mochel 1 collaboration

D Devos 1 collaboration

A Suppiej 1 collaboration

A Roubertie 1 collaboration

I Meunier 1 collaboration

C Gitiaux 1 collaboration

A Curie 1 collaboration

F Klapczynski 1 collaboration

N Allani-Essid 1 collaboration

M Carneiro 1 collaboration

R Van Minkelen 1 collaboration

A Kievit 1 collaboration

J Fluss 1 collaboration

L Ratbi 1 collaboration

D Héron 1 collaboration

D Gras 1 collaboration

J Do Cao 1 collaboration

S Pichard 1 collaboration

I Strubi-Villaume 1 collaboration

I Audo 1 collaboration

G Lesca 1 collaboration

P Charles 1 collaboration

F Dubois 1 collaboration

P Comet-Didierjean 1 collaboration

Y Capri 1 collaboration

C Barondiot 1 collaboration

M Barathon 1 collaboration

C Ewenczyk 1 collaboration

A Durr 1 collaboration

C Mignot 1 collaboration

Mathilde Moiny-Fouquet 1 collaboration

Claire Guillaume 1 collaboration

Noémie Berlengi 1 collaboration

Lucie Lapp 1 collaboration

Claire Watelet 1 collaboration

Anne Borsa-Dorion 1 collaboration

Yohann Bernard 1 collaboration

Cédric Baumann 1 collaboration

Amandine Luc 1 collaboration

Cyril Schweitzer 1 collaboration

Anne-Claire Bursztejn 1 collaboration

Aurélie Robert 1 collaboration

Jean-Marc Alberto 1 collaboration

Marie Meyer 1 collaboration

Urbi Kundu 1 collaboration

Sébastien Hergalant 1 collaboration

Rémy Umoret 1 collaboration

David Coelho 1 collaboration

Charlotte Felici 1 collaboration

Anne de Saint Martin 1 collaboration

Marie-Thérèse Abi-Warde 1 collaboration

Christian Zix 1 collaboration

Mina Zamani 1 collaboration

Saeid Sadeghian 1 collaboration

Jawaher Zeighami 1 collaboration

Tahereh Seifi 1 collaboration

Reza Azizimalamiri 1 collaboration

Gholamreza Shariati 1 collaboration

Hamid Galehdari 1 collaboration

Mareike Selig 1 collaboration

Can Ding 1 collaboration

Sarah Duerinckx 1 collaboration

Isabelle Pirson 1 collaboration

Marc Abramowicz 1 collaboration

Guillemette Clément 1 collaboration

S Francois-Bic 1 collaboration

C Legagneur 1 collaboration

C Hubert 1 collaboration

R-M Guéant-Rodriguez 1 collaboration

E Albuisson 1 collaboration

E Renard 1 collaboration

Céline Bordet 1 collaboration

Sandrine Brice 1 collaboration

Carole Maupain 1 collaboration

Estelle Gandjbakhch 1 collaboration

Aurélien Palmyre 1 collaboration

Alexandre Moerman 1 collaboration

Linda Akloul 1 collaboration

Anne-Claire Brehin 1 collaboration

Caroline Sawka 1 collaboration

Caroline Rooryck-Thambo 1 collaboration

Karine Nguyen 1 collaboration

Delphine Dupin Deguine 1 collaboration

Cécile Rouzier 1 collaboration

Gipsy Billy 1 collaboration

Krystelle Séné 1 collaboration

Isabelle Denjoy 1 collaboration

Marc Planes 1 collaboration

Jean-Michael Mazzella 1 collaboration

Stéphanie Staraci 1 collaboration

Mélanie Hebert 1 collaboration

Elsa Le Boette 1 collaboration

Claire-Cécile Michon 1 collaboration

Marie-Lise Babonneau 1 collaboration

Angélique Curjol 1 collaboration

Amine Bekhechi 1 collaboration

Rafik Mansouri 1 collaboration

Ibticem Raji 1 collaboration

Jean-François Pruny 1 collaboration

Véronique Fressart 1 collaboration

Flavie Ader 1 collaboration

Pascale Richard 1 collaboration

Sophie Tezenas du Montcel 1 collaboration

Marcela Gargiulo 1 collaboration

Philippe Charron 1 collaboration

Sara Weinhard 1 collaboration

Arnaud Wiedemann 1 collaboration

Jean-Hugues Dalle 1 collaboration

Béatrice Lebon Labich 1 collaboration

Cécile Pochon 1 collaboration

Martin Chevarin 1 collaboration

Rebecca A Barnard 1 collaboration

Fatma Daoud 1 collaboration

Paul Kuentz 1 collaboration

Caroline Cabret 1 collaboration

Elodie Gautier 1 collaboration

Patrick Callier 1 collaboration

Judith St-Onge 1 collaboration

Thibaud Jouan 1 collaboration

Marie Ange Delrue 1 collaboration

Cyril Goizet 1 collaboration

Julien Van-Gils 1 collaboration

Muriel Holder 1 collaboration

Pierre-Simon Jouk 1 collaboration

Gipsy Lopez 1 collaboration

Dominique Martin-Coignard 1 collaboration

Aurélia Jacquette 1 collaboration

Khadija Amarof 1 collaboration

Isabelle Missotte 1 collaboration

Sujatha Jagadeesh 1 collaboration

Elisabetta Lapi 1 collaboration

Florence Demurger 1 collaboration

Martine Doco-Fenzy 1 collaboration

Delphine Héron 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Alice Masurel 1 collaboration

Salima El Chehadeh 1 collaboration

Nathalie Marle 1 collaboration

Frédéric Huet 1 collaboration

Christine Binquet 1 collaboration

Gwenaëlle Collod-Beroud 1 collaboration

Robert Olaso 1 collaboration

Doris Lechner 1 collaboration

Charlotte Poe 1 collaboration

Mirna Assoum 1 collaboration

Laurence Duplomb 1 collaboration

Antonio Vitobello 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Jean-Baptiste Rivière 1 collaboration

Brian J O'Roak 1 collaboration

Céline Chéry 1 collaboration

Thomas Josse 1 collaboration

Pascal Perrin 1 collaboration

Denise Tramoy 1 collaboration

Jimmy Voirin 1 collaboration

Henri Margot 1 collaboration

Guilaine Boursier 1 collaboration

Claire Duflos 1 collaboration

Elodie Sanchez 1 collaboration

Jeanne Amiel 1 collaboration

Jean-Christophe Andrau 1 collaboration

Stéphanie Arpin 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Odile Boute 1 collaboration

Lydie Burglen 1 collaboration

Charlotte Caille 1 collaboration

Solène Conrad 1 collaboration

Geoffroy Delplancq 1 collaboration

Klaus Dieterich 1 collaboration

Helder Fernandes 1 collaboration

Christine Francannet 1 collaboration

Vincent Gatinois 1 collaboration

Marion Gerard 1 collaboration

Jamal Ghoumid 1 collaboration

Sarah Grotto 1 collaboration

Agnès Guichet 1 collaboration

Marie-Line Jacquemont 1 collaboration

Philippe Khau Van Kien 1 collaboration

Marine Legendre 1 collaboration

K H Le Quan Sang 1 collaboration

Virginie Magry 1 collaboration

Sylvie Manouvrier 1 collaboration

Dominique Martin 1 collaboration

Godelieve Morel 1 collaboration

Nicole Philip 1 collaboration

Marlène Rio 1 collaboration

Julie Robbe 1 collaboration

Massimiliano Rossi 1 collaboration

Gabriella Vera 1 collaboration

Alain Verloes 1 collaboration

Sacha Weber 1 collaboration

Sandra Whalen 1 collaboration

Damien Sanlaville 1 collaboration

Nathalie Aladjidi 1 collaboration

Sofia Melliou 1 collaboration

Kevin T Sangster 1 collaboration

Jennifer Kao 1 collaboration

Mehdi Zarrei 1 collaboration

K H Brian Lam 1 collaboration

Jennifer Howe 1 collaboration

Michail-Dimitrios Papaioannou 1 collaboration

Queenie P L Tsang 1 collaboration

Okty Abbasi Borhani 1 collaboration

Rifat Shahriar Sajid 1 collaboration

Patrick Shannon 1 collaboration

Stephen W Scherer 1 collaboration

Dimitri James Stavropoulos 1 collaboration

Ugljesa Djuric 1 collaboration

Phedias Diamandis 1 collaboration

Soraya Sakhi 1 collaboration

Sophie Cholet 1 collaboration

Samer Wehbi 1 collaboration

Benjamin Cogne 1 collaboration

Sandrine Vuillaumier-Barrot 1 collaboration

Thierry Dupré 1 collaboration

Trost Detleft 1 collaboration

Christine Muti 1 collaboration

François Fenaille 1 collaboration

Arnaud Bruneel 1 collaboration

Jeremy Willekens 1 collaboration

Nathan Burt-Oberecken 1 collaboration

Edgar Laugeais 1 collaboration

Tony Kaoma 1 collaboration

François Bernardin 1 collaboration

Laurent Vallar 1 collaboration

Pauline Dimofski 1 collaboration

Brigitte Leininger-Muller 1 collaboration

Calina Todosi 1 collaboration

Eva Feigerlova 1 collaboration

Pierre Journeau 1 collaboration

Marc Klein 1 collaboration

Louis Maillard 1 collaboration

Hortense Thomas 1 collaboration

Tom Alix 1 collaboration

Justine Wourms 1 collaboration

Stéphane Zuily 1 collaboration

Marc Muller 1 collaboration

Marion Divoux 1 collaboration

Marjolaine Willems 1 collaboration

Gaëlle Vieville 1 collaboration

Françoise Devillard 1 collaboration

Sarah Baer 1 collaboration

Bénédicte Gérard 1 collaboration

Marie Vincent 1 collaboration

Benjamin Cogné 1 collaboration

Nathalie Couque 1 collaboration

Patrick Edery 1 collaboration

Gaëtan Lesca 1 collaboration

Nicolas Chatron 1 collaboration

Marianne Till 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

Boris Keren 1 collaboration

Élise Pisan 1 collaboration

Alexandra Afenjar 1 collaboration

Éric Bieth 1 collaboration

Guillaume Banneau 1 collaboration

Thomas Husson 1 collaboration

Dominique Campion 1 collaboration

Camille Charbonnier 1 collaboration

Anne De Saint Martin 1 collaboration

Manon Degoutin 1 collaboration

Sophie Rondeau 1 collaboration

Carine Pourié 1 collaboration

Affiliations

Publications (31)

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Severe Phenotype in Patients with Large Deletions of

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.

Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data.

Pathogenic variants in

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Folinic acid improves the score of Autism in the EFFET placebo-controlled randomized trial.

Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome.

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Nutrigenomics and RNA methylation: Role of micronutrients.

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).

Deciphering the natural history of SCA7 in children.

Dermatological opinions are imperative in ambulatory and acute care settings for pediatric skin disorders - HL-SkinPed.

Vitamin B

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Maternal opioid addiction: A potential cause of elevated 17-OH progesterone in neonatal screening.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.

Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: Influence of age and sex is confirmed, while a role of chronic graft-versus-host disease in delayed puberty onset is revealed.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment.

MAN1B1-CDG: Three new individuals and associated biochemical profiles.

Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

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

Réseau de co-auteurs