Pascale Saugier-Veber

Affiliations
  • Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

Publications (33)

Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

Human mutation
Avec: François Lecoquierre , Anne-Claire Brehin , Sophie Coutant , Juliette Coursimault , Anne Bazin , Wilfrid Finck , Guillaume Benoist , Marianne Begorre , Claire Beneteau , Daniel Cailliez , Pierre Chenal , Mirjam De Jong , Sophie Degré , Louise Devisme , Christine Francannet , Bénédicte Gérard , Corinne Jeanne , Madeleine Joubert , Hubert Journel , Hélène Laurichesse Delmas , Valérie Layet , Alain Liquier , Raphaele Mangione , Sophie Patrier , Fanny Pelluard , Florence Petit , Nadia Tillouche , Conny van Ravenswaaij-Arts , Thierry Frebourg , Nicolas Gruchy , Gaël Nicolas , Marion Gerard

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

European journal of medical genetics
Avec: Servane de Masfrand , Benjamin Cogné , Mathilde Nizon , Wallid Deb , Alice Goldenberg , François Lecoquierre , Gaël Nicolas , Marie Bournez , Antonio Vitobello , Frédéric Tran Mau-Them , Gwenaël le Guyader , Frédéric Bilan , Peter Bauer , Christiane Zweier , Juliette Piard , Laurent Pasquier , Stéphane Bézieau , Bénédicte Gerard , Laurence Faivre , Amélie Piton , Bertrand Isidor

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Scientific reports
Avec: François Lecoquierre , Kévin Cassinari , Nathalie Drouot , Angèle May , Steeve Fourneaux , Francoise Charbonnier , Celine Derambure , Sophie Coutant , Alexander Hoischen , Camille Charbonnier , Gaël Nicolas

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Prenatal diagnosis
Avec: Kamran Moradkhani , Laurence Cuisset , Pierre Boisseau , Olivier Pichon , Marine Lebrun , Houda Hamdi-Rozé , Marie-Laure Maurin , Nicolas Gruchy , Marie-Christine Manca-Pellissier , Perrine Malzac , Frédéric Bilan , Marie-Pierre Audrezet , Anne-Laure Fauret-Amsellem , Chantal Missirian , Paul Kuentz , Gregory Egea , Agnès Guichet , Isabelle Creveaux , Caroline Janel , Ines Harzallah , Renaud Touraine , Carole Goumy , Nicole Joyé , Jacques Puechberty , Emmanuelle Haquet , Sandra Chantot-Bastaraud , Sébastien Schmitt , Philippe Gosset , Bénédicte Duban-Bedu , Bruno Delobel , Philippe Vago , François Vialard , Denise Molina Gomes , Jean-Pierre Siffroi , Jean-Paul Bonnefont , Jean-Michel Dupont , Philippe Jonveaux , Martine Doco-Fenzy , Damien Sanlaville , Cédric Le Caignec

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Morten Alstrup , Fabrizia Cesca , Alicja Krawczun-Rygmaczewska , Celia López-Menéndez , Julia Pose-Utrilla , Filip Christian Castberg , Mia Ortved Bjerager , Candice Finnila , Michael C Kruer , Somayeh Bakhtiari , Sergio Padilla-Lopez , Linda Manwaring , Boris Keren , Alexandra Afenjar , Daniele Galatolo , Roberta Scalise , Fillippo M Santorelli , Amelle Shillington , Myriam Vezain , Jelena Martinovic , Cathy Stevens , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Isabelle Thiffault , Tomi Pastinen , Kristin Baranano , Angela Lee , Jorge Granadillo , Megan R Glassford , Catherine E Keegan , Nicole Matthews , Teresa Iglesias , Elsebet Østergaard

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Brain : a journal of neurology
Avec: Ashish R Deshwar , Cheryl Cytrynbaum , Harsha Murthy , Jessica Zon , David Chitayat , Jonathan Volpatti , Ruth Newbury-Ecob , Sian Ellard , Hana Lango Allen , Emily P Yu , Ramil Noche , Suzi Walker , Stephen W Scherer , Sonal Mahida , Christopher M Elitt , Gaël Nicolas , Alice Goldenberg , Francois Lecoquierre , Ivana Dabaj , Hannah Meddaugh , Michael Marble , Kim M Keppler-Noreuil , Lucy Drayson , Kristin W Barañano , Anna Chassevent , Katie Agre , Pascaline Létard , Frederic Bilan , Gwenaël Le Guyader , Annie Laquerrière , Keri Ramsey , Lindsay Henderson , Lauren Brady , Mark Tarnopolsky , Matthew Bainbridge , Jennifer Friedman , Yline Capri , Larissa Athayde , Fernando Kok , Juliana Gurgel-Giannetti , Luiza L P Ramos , Susan Blaser , James J Dowling , Rosanna Weksberg

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Human genetics
Avec: Charlotte Herbst , Viktoria Bothe , Meret Wegler , Susanne Axer-Schaefer , Séverine Audebert-Bellanger , Jozef Gecz , Benjamin Cogne , Hagit Baris Feldman , Anselm H C Horn , Anna C E Hurst , Melissa A Kelly , Michael C Kruer , Alina Kurolap , Annie Laquerriere , Megan Li , Paul R Mark , Markus Morawski , Mathilde Nizon , Tomi Pastinen , Tilman Polster , Jang SeSong , Heinrich Sticht , Jens T Stieler , Isabelle Thifffault , Clare L van Eyk , Pascale Marcorelles , Myriam Vezain-Mouchard , Rami Abou Jamra , Henry Oppermann

Lessons from prospective longitudinal follow-up of a French APECED cohort.

The Journal of clinical endocrinology and metabolism
Avec: Linda Humbert , Emmanuelle Proust-Lemoine , Sylvain Dubucquoi , Elisabeth Helen Kemp , Nicole Fabien , Isabelle Raymond-Top , Catherine Cardot-Bauters , Jean-Claude Carel , Maryse Cartigny , Olivier Chabre , Philippe Chanson , Brigitte Delemer , Christine Do Cao , Laurence Guignat , Jean Emmanuel Kahn , Veronique Kerlan , Herve Lefebvre , Agnès Linglart , Roberto Mallone , Rachel Reynaud , Boualem Sendid , Pierre-François Souchon , Philippe Touraine , Jean-Louis Wémeau , Marie-Christine Vantyghem

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics
Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Translational psychiatry
Avec: Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez , Alice Goldenberg , Anne-Marie Guerrot , Anne-Claire Richard , Valérie Drouin-Garraud , Anne-Claire Brehin , Maryam Soleimani , Romain Taton , Maud Rotharmel , Antoine Rosier , Pascal Chambon , Nathalie Le Meur , Géraldine Joly-Helas , Anne Boland , Jean-François Deleuze , Robert Olaso , Thierry Frebourg , Gael Nicolas , Olivier Guillin , Dominique Campion

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

European journal of medical genetics
Avec: Juliette Coursimault , François Lecoquierre , Valérie Drouin-Garraud , Joël Lechevallier , Anne Boland , Jean-François Deleuze , Thierry Frebourg , Gaël Nicolas , Anne-Claire Brehin

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Acta neuropathologica communications
Avec: Florent Marguet , Myriam Vezain , Pascale Marcorelles , Séverine Audebert-Bellanger , Kévin Cassinari , Nathalie Drouot , Pascal Chambon , Bruno J Gonzalez , Arie Horowitz , Annie Laquerriere ,

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Human mutation
Avec: Juliette Coursimault , Anne Rovelet-Lecrux , Kévin Cassinari , Elise Brischoux-Boucher , Alice Goldenberg , François Lecoquierre , Nathalie Drouot , Anne-Claire Richard , Gabriella Vera , Sophie Coutant , Olivier Quenez , Marion Rolain , Céline Bonnet , Myriam Bronner , Magalie Lecourtois , Gaël Nicolas

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

European journal of medical genetics
Avec: Juliette Coursimault , Alice Goldenberg , Gaël Nicolas , Sophie Coutant , Anne Vincent , Dorothée Pouliquen , Cécile Feltin , Erfan Aref-Eshghi , Bekim Sadikovic , François Lecoquierre

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

American journal of medical genetics. Part A
Avec: François Lecoquierre , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest , Mariette Renaux-Petel , Jean-Baptiste Leca , Tristan Hazelzet , Marie Brasseur-Daudruy , Ferielle Louillet , Marc Muraine , Sophie Coutant , Olivier Quenez , Anne Boland , Jean-François Deleuze , Thierry Frebourg , Alice Goldenberg , Anne-Marie Guerrot , Gaël Nicolas

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

European journal of medical genetics
Avec: Florent Marguet , Myriam Vezain , Martine Bucourt , Pascaline Letard , Andrée Delahaye , Eva Pipiras , Thierry Frébourg , Bruno Gonzalez , Annie Laquerrière

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

European journal of medical genetics
Avec: Gabriella Vera , Arthur Sorlin , Geoffroy Delplancq , François Lecoquierre , Marie Brasseur-Daudruy , Florence Petit , Thomas Smol , Alban Ziegler , Dominique Bonneau , Estelle Colin , Sandra Mercier , Benjamin Cogné , Stéphane Bézieau , Patrick Edery , Gaetan Lesca , Nicolas Chatron , Isabelle Sabatier , Bénédicte Duban-Bedu , Cindy Colson , Amélie Piton , Benjamin Durand , Yline Capri , Laurence Perrin , Antje Wiesener , Christiane Zweier , Reza Maroofian , Christopher J Carroll , Hamid Galehdari , Neda Mazaheri , Bert Callewaert , Fabienne Giulianno , Khaoula Zaafrane-Khachnaoui , Rebecca Buchert-Lo , Tobias Haack , Janine Magg , Angelika Rieß , Maria Blandfort , Stephan Waldmüller , Veronka Horber , Emanuela Leonardi , Roberta Polli , Licia Turolla , Alessandra Murgia , Thierry Frebourg , Anne Sophie Lebre , Gaël Nicolas , Anne-Marie Guerrot

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Journal of medical genetics
Avec: Abdellah Tebani , Bénédicte Sudrié-Arnaud , Ivana Dabaj , Stéphanie Torre , Laur Domitille , Sarah Snanoudj , Benedicte Heron , Thierry Levade , Catherine Caillaud , Sabrina Vergnaud , Sophie Coutant , Hélène Dranguet , Roseline Froissart , Majed Al Khouri , Yves Alembik , Julien Baruteau , Jean-Baptiste Arnoux , Anais Brassier , Anne-Claire Brehin , Tiffany Busa , Aline Cano , Brigitte Chabrol , Christine Coubes , Isabelle Desguerre , Martine Doco-Fenzy , Bernard Drenou , Nursel H Elcioglu , Solaf Elsayed , Alain Fouilhoux , Céline Poirsier , Alice Goldenberg , Philippe Jouvencel , Alice Kuster , François Labarthe , Leila Lazaro , Samia Pichard , Serge Rivera , Sandrine Roche , Stéphanie Roggerone , Agathe Roubertie , Sabine Sigaudy , Marta Spodenkiewicz , Marine Tardieu , Catherine Vanhulle , Stéphane Marret , Soumeya Bekri

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Molecular genetics & genomic medicine
Avec: Valentin Ruault , Pauline Burger , Johanna Gradels-Hauguel , Nathalie Ruiz , Auteur inconnu , Rami Abou Jamra , Alexandra Afenjar , Yves Alembik , Jean-Luc Alessandri , Stéphanie Arpin , Giulia Barcia , Šárka Bendová , Ange-Line Bruel , Perrine Charles , Nicolas Chatron , Maya Chopra , Solène Conrad , Valérie Cormier Daire , Auriane Cospain , Christine Coubes , Juliette Coursimault , Andrée Delahaye-Duriez , Martine Doco , William Dufour , Benjamin Durand , Camille Engel , Laurence Faivre , Fanny Ferroul , Mélanie Fradin , Hélène Frenkiel , Carlo Fusco , Livia Garavelli , Aurore Garde , Bénédicte Gerard , David Germanaud , Louise Goujon , Aurélie Gouronc , Emmanuelle Ginglinger , Alice Goldenberg , Miroslava Hancarova , Markéta Havlovicová , Delphine Heron , Bertrand Isidor , Nolwenn Jean Marçais , Boris Keren , Margarete Koch-Hogrebe , Paul Kuentz , Victoria Lamure , Anne-Sophie Lebre , François Lecoquierre , Natacha Lehman , Gaetan Lesca , Stanislas Lyonnet , Delphine Martin , Cyril Mignot , Teresa M Neuhann , Gaël Nicolas , Mathilde Nizon , Florence Petit , Christophe Philippe , Amélie Piton , Marzia Pollazzon , Darina Prchalová , Audrey Putoux , Marlène Rio , Sophie Rondeau , Massimiliano Rossi , Quentin Sabbagh , Ariane Schmetz , Julie Steffann , Christel Thauvin-Robinet , Annick Toutain , Frederic Tran Mau Them , Gabriele Trimarchi , Marie Vincent , Markéta Vlčková , Dagmar Wieczorek , Marjolaine Willems , Kevin Yauy , Michaela Zelinová , Alban Ziegler , Auteur inconnu , Boris Chaumette , Bekim Sadikovic , Jean-Louis Mandel , David Geneviève

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

European journal of human genetics : EJHG
Avec: Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar , Séverine Audebert-Bellanger , Catherine Badens , Frédéric Bilan , Varoona Bizaoui , Anne Boland , Marie-Noëlle Bonnet-Dupeyron , Elise Brischoux-Boucher , Céline Bonnet , Marie Bournez , Odile Boute , Perrine Brunelle , Roseline Caumes , Perrine Charles , Nicolas Chassaing , Nicolas Chatron , Benjamin Cogné , Estelle Colin , Valérie Cormier-Daire , Rodolphe Dard , Benjamin Dauriat , Julian Delanne , Jean-François Deleuze , Florence Demurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Anne Dieux , Christèle Dubourg , Patrick Edery , Salima El Chehadeh , Laurence Faivre , Patricia Fergelot , Mélanie Fradin , Aurore Garde , David Geneviève , Brigitte Gilbert-Dussardier , Cyril Goizet , Alice Goldenberg , Evan Gouy , Anne-Marie Guerrot , Anne Guimier , Inès Harzalla , Delphine Héron , Bertrand Isidor , Didier Lacombe , Xavier Le Guillou Horn , Boris Keren , Alma Kuechler , Elodie Lacaze , Alinoë Lavillaureix , Daphné Lehalle , Gaëtan Lesca , James Lespinasse , Jonathan Levy , Stanislas Lyonnet , Godeliève Morel , Nolwenn Jean-Marçais , Sandrine Marlin , Luisa Marsili , Cyril Mignot , Sophie Nambot , Mathilde Nizon , Robert Olaso , Laurent Pasquier , Laurine Perrin , Florence Petit , Veronique Pingault , Amélie Piton , Fabienne Prieur , Audrey Putoux , Marc Planes , Sylvie Odent , Chloé Quélin , Sylvia Quemener-Redon , Mélanie Rama , Marlène Rio , Massimiliano Rossi , Elise Schaefer , Sophie Rondeau , Thomas Smol , Sabine Sigaudy , Renaud Touraine , Frederic Tran Mau-Them , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.

European journal of human genetics : EJHG
Avec: Olivier Quenez , Kevin Cassinari , Sophie Coutant , François Lecoquierre , Kilan Le Guennec , Stéphane Rousseau , Anne-Claire Richard , Stéphanie Vasseur , Emilie Bouvignies , Jacqueline Bou , Gwendoline Lienard , Sandrine Manase , Steeve Fourneaux , Nathalie Drouot , Virginie Nguyen-Viet , Myriam Vezain , Pascal Chambon , Géraldine Joly-Helas , Nathalie Le Meur , Mathieu Castelain , Anne Boland , Jean-François Deleuze , Auteur inconnu , Isabelle Tournier , Françoise Charbonnier , Edwige Kasper , Gaëlle Bougeard , Thierry Frebourg , Stéphanie Baert-Desurmont , Dominique Campion , Anne Rovelet-Lecrux , Gaël Nicolas

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Clinical chemistry
Avec: Kévin Cassinari , Olivier Quenez , Géraldine Joly-Hélas , Ludivine Beaussire , Nathalie Le Meur , Mathieu Castelain , Alice Goldenberg , Anne-Marie Guerrot , Anne-Claire Brehin , Jean-François Deleuze , Anne Boland , Anne Rovelet-Lecrux , Dominique Campion , Nicolas Gruchy , Thierry Frebourg , Gaël Nicolas , Nasrin Sarafan-Vasseur , Pascal Chambon

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Human mutation
Avec: Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert-Desurmont , Claire Bardel , Marie-Pierre Buisine , Eduardo Calpena , Yline Capri , Jordi Corominas Galbany , Flavie Diguet , Patrick Edery , Bertrand Isidor , Audrey Labalme , Cedric Le Caignec , Jonathan Lévy , François Lecoquierre , Pierre Lindenbaum , Olivier Pichon , Pierre-Antoine Rollat-Farnier , Thomas Simonet , Anne-Claude Tabet , Annick Toutain , Andrew O M Wilkie , Gaetan Lesca , Damien Sanlaville , Gaël Nicolas , Caroline Schluth-Bolard

Murine

EMBO molecular medicine
Avec: Junning Yang , Claire Simonneau , Robert Kilker , Laura Oakley , Matthew D Byrne , Zuzana Nichtova , Ioana Stefanescu , Fnu Pardeep-Kumar , Sushil Tripathi , Eric Londin , Belinda Willard , Mathew Thakur , Stephen Pickup , Hiroshi Ishikawa , Horst Schroten , Richard Smeyne , Arie Horowitz

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.

Life (Basel, Switzerland)
Avec: Ivana Dabaj , Bénédicte Sudrié-Arnaud , François Lecoquierre , Kimiyo Raymond , Franklin Ducatez , Anne-Marie Guerrot , Sarah Snanoudj , Sophie Coutant , Stéphane Marret , Gaël Nicolas , Abdellah Tebani , Soumeya Bekri

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Neurogenetics
Avec: Idriss Bousquet , Muriel Bozon , Valérie Castellani , Renaud Touraine , Amélie Piton , Bénédicte Gérard , Laurent Guibaud , Damien Sanlaville , Patrick Edery , Audrey Putoux

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Human genetics
Avec: Juliette Coursimault , Anne-Marie Guerrot , Michelle M Morrow , Catherine Schramm , Francisca Millan Zamora , Anita Shanmugham , Shuxi Liu , Fanggeng Zou , Frédéric Bilan , Gwenaël Le Guyader , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Laurence Faivre , Frédéric Tran Mau-Them , Marine Tessarech , Estelle Colin , Salima El Chehadeh , Bénédicte Gérard , Elise Schaefer , Benjamin Cogne , Bertrand Isidor , Mathilde Nizon , Diane Doummar , Stéphanie Valence , Delphine Héron , Boris Keren , Cyril Mignot , Charles Coutton , Françoise Devillard , Anne-Sophie Alaix , Jeanne Amiel , Laurence Colleaux , Arnold Munnich , Karine Poirier , Marlène Rio , Sophie Rondeau , Giulia Barcia , Bert Callewaert , Annelies Dheedene , Candy Kumps , Sarah Vergult , Björn Menten , Wendy K Chung , Rebecca Hernan , Austin Larson , Kelly Nori , Sarah Stewart , James Wheless , Christina Kresge , Beth A Pletcher , Roseline Caumes , Thomas Smol , Sabine Sigaudy , Christine Coubes , Margaret Helm , Rosemarie Smith , Jennifer Morrison , Patricia G Wheeler , Amy Kritzer , Guillaume Jouret , Alexandra Afenjar , Jean-François Deleuze , Robert Olaso , Anne Boland , Christine Poitou , Thierry Frebourg , Claude Houdayer , Gaël Nicolas , François Lecoquierre

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

American journal of medical genetics. Part A
Avec: Daphné Lehalle , Ange-Line Bruel , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Mirna Assoum , Jeanne Amiel , Geneviève Baujat , Bettina Bessieres , Stefania Bigoni , Lydie Burglen , Guillaume Captier , Rodolphe Dard , Patrick Edery , Fernanda Fortunato , David Geneviève , Alice Goldenberg , Laurent Guibaud , Delphine Héron , Muriel Holder-Espinasse , Damien Lederer , Fermina Lopez Grondona , Sarah Grotto , Sandrine Marlin , Gwenaël Nadeau , Arnaud Picard , Massimiliano Rossi , Joëlle Roume , Damien Sanlaville , Stéphane Triau , Maria Irene Valenzuela Palafoll , Clémence Vanlerberghe , Lionel Van Maldergem , Myriam Vezain , Catherine Vincent-Delorme , Einat Zivi , Julien Thevenon , Pierre Vabres , Christel Thauvin-Robinet , Patrick Callier , Laurence Faivre

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Human mutation
Avec: Juliette Coursimault , Kévin Cassinari , François Lecoquierre , Olivier Quenez , Sophie Coutant , Céline Derambure , Myriam Vezain , Nathalie Drouot , Gabriella Vera , Elise Schaefer , Anaïs Philippe , Bérénice Doray , Laëtitia Lambert , Jamal Ghoumid , Thomas Smol , Mélanie Rama , Marine Legendre , Didier Lacombe , Patricia Fergelot , Robert Olaso , Anne Boland , Jean-François Deleuze , Alice Goldenberg , Gaël Nicolas

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Human genetics
Avec: Myriam Vezain , Christel Thauvin-Robinet , Yoann Vial , Sophie Coutant , Séverine Drunat , Jon Andoni Urtizberea , Anne Rolland , Agnès Jacquin-Piques , Séverine Fehrenbach , Gaël Nicolas , François Lecoquierre ,

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.

Human genomics
Avec: Valerie Jacquemin , Nassim Versbraegen , Sarah Duerinckx , Annick Massart , Julie Soblet , Camille Perazzolo , Nicolas Deconinck , Elise Brischoux-Boucher , Anne De Leener , Nicole Revencu , Sandra Janssens , Stèphanie Moorgat , Bettina Blaumeiser , Kristiina Avela , Renaud Touraine , Imad Abou Jaoude , Kathelijn Keymolen , Tom Lenaerts , Marc Abramowicz , Isabelle Pirson

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Human genetics
Avec: François Lecoquierre , Olivier Quenez , Steeve Fourneaux , Sophie Coutant , Myriam Vezain , Marion Rolain , Nathalie Drouot , Anne Boland , Robert Olaso , Vincent Meyer , Jean-François Deleuze , Dana Dabbagh , Isabelle Gilles , Claire Gayet , Alice Goldenberg , Anne-Marie Guerrot , Gaël Nicolas

Complex

Neurology. Genetics
Avec: Mar Costa-Roger , Laura Blasco-Pérez , Lorene Gerin , Marta Codina-Solà , Jordi Leno-Colorado , Marta Gómez-García De la Banda , Rocio Garcia-Uzquiano , Séverine Drunat , Susana Quijano-Roy , Eduardo F Tizzano

Réseau de co-auteurs

Gaël Nicolas 20 collaborations
François Lecoquierre 19 collaborations
Alice Goldenberg 13 collaborations
Sophie Coutant 11 collaborations
Anne Boland 9 collaborations
Jean-François Deleuze 9 collaborations
Thierry Frebourg 8 collaborations
Myriam Vezain 8 collaborations
Olivier Quenez 8 collaborations
Anne-Marie Guerrot 8 collaborations
Juliette Coursimault 7 collaborations
Laurence Faivre 6 collaborations
Nathalie Drouot 6 collaborations
Anne-Claire Brehin 5 collaborations
Mathilde Nizon 5 collaborations
Amélie Piton 5 collaborations
Bertrand Isidor 5 collaborations
Kévin Cassinari 5 collaborations
Damien Sanlaville 5 collaborations
Boris Keren 5 collaborations
Alexandra Afenjar 5 collaborations
Nicolas Chatron 5 collaborations
Robert Olaso 5 collaborations
Patrick Edery 5 collaborations
Florence Petit 4 collaborations
Frédéric Bilan 4 collaborations
Renaud Touraine 4 collaborations
None None 4 collaborations
Sophie Rondeau 4 collaborations
Gaetan Lesca 4 collaborations
Christel Thauvin-Robinet 4 collaborations
Delphine Héron 4 collaborations
Cyril Mignot 4 collaborations
Anne-Claire Richard 4 collaborations
Pascal Chambon 4 collaborations
Dominique Campion 4 collaborations
Gabriella Vera 4 collaborations
Thomas Smol 4 collaborations
Bénédicte Gérard 3 collaborations
Nicolas Gruchy 3 collaborations
Benjamin Cogné 3 collaborations
Antonio Vitobello 3 collaborations
Steeve Fourneaux 3 collaborations
Camille Charbonnier 3 collaborations
Ivana Dabaj 3 collaborations
Yline Capri 3 collaborations
Séverine Audebert-Bellanger 3 collaborations
Didier Lacombe 3 collaborations
Patricia Fergelot 3 collaborations
Bekim Sadikovic 3 collaborations
Kevin Cassinari 3 collaborations
Nathalie Le Meur 3 collaborations
Anne Rovelet-Lecrux 3 collaborations
Elise Brischoux-Boucher 3 collaborations
Alban Ziegler 3 collaborations
Estelle Colin 3 collaborations
Christine Coubes 3 collaborations
Sabine Sigaudy 3 collaborations
Ange-Line Bruel 3 collaborations
Audrey Putoux 3 collaborations
Marlène Rio 3 collaborations
Massimiliano Rossi 3 collaborations
David Geneviève 3 collaborations
Anne-Sophie Denommé-Pichon 3 collaborations
Elise Schaefer 3 collaborations
Marie Bournez 2 collaborations
Frédéric Tran Mau-Them 2 collaborations
Christiane Zweier 2 collaborations
Laurent Pasquier 2 collaborations
Stéphane Bézieau 2 collaborations
Bénédicte Gerard 2 collaborations
Olivier Pichon 2 collaborations
Paul Kuentz 2 collaborations
Bénédicte Duban-Bedu 2 collaborations
Martine Doco-Fenzy 2 collaborations
Michael C Kruer 2 collaborations
Tomi Pastinen 2 collaborations
Gwenaël Le Guyader 2 collaborations
Annie Laquerrière 2 collaborations
Jozef Gecz 2 collaborations
Benjamin Cogne 2 collaborations
Annie Laquerriere 2 collaborations
Pascale Marcorelles 2 collaborations
Rami Abou Jamra 2 collaborations
Erfan Aref-Eshghi 2 collaborations
Christèle Dubourg 2 collaborations
Thomas Husson 2 collaborations
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