Anne-Marie Guerrot

Affiliations
  • Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

Publications (27)

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 , Pascale Saugier-Veber , Nicolas Gruchy , Thierry Frebourg , Gaël Nicolas , Nasrin Sarafan-Vasseur , Pascal Chambon

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 , Pascale Saugier-Veber , Stéphane Marret , Gaël Nicolas , Abdellah Tebani , Soumeya Bekri

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 , Pascale Saugier-Veber , Gaël Nicolas , François Lecoquierre

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.

International journal of molecular sciences
Avec: Stephen J Staklinski , Sarah Snanoudj , Anne-Marie Guerrot , Catherine Vanhulle , François Lecoquierre , Soumeya Bekri , Michael S Kilberg

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 , Pascale Saugier-Veber , Alice Goldenberg , Anne-Marie Guerrot , Gaël Nicolas

Growth charts in DYRK1A syndrome.

American journal of medical genetics. Part A
Avec: Pierre-Louis Lanvin , Thomas Goronflot , Bertrand Isidor , Mathilde Nizon , Benjamin Durand , Salima El Chehadeh , David Geneviève , Valentin Ruault , Mélanie Fradin , Laurent Pasquier , Julien Thévenon , Bruno Delobel , Lydie Burglen , Alexandra Afenjar , Laurence Faivre , Christine Francannet , Anne-Marie Guerrot , Alice Goldenberg , Sandra Mercier , Delphine Héron , Daphné Lehalle , Cyril Mignot , Isabelle Marey , Perrine Charles , Sébastien Moutton , Stéphane Bézieau , Allan Bayat , Amélie Piton , Marjolaine Willems , Marie Vincent

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

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

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia
Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

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

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel , Jean-Christophe Andrau , Stéphanie Arpin , Elise Brischoux-Boucher , Odile Boute , Lydie Burglen , Charlotte Caille , Yline Capri , Patrick Collignon , Solène Conrad , Valérie Cormier-Daire , Geoffroy Delplancq , Klaus Dieterich , Hélène Dollfus , Mélanie Fradin , Laurence Faivre , Helder Fernandes , Christine Francannet , Vincent Gatinois , Marion Gerard , Alice Goldenberg , Jamal Ghoumid , Sarah Grotto , Anne-Marie Guerrot , Agnès Guichet , Bertrand Isidor , Marie-Line Jacquemont , Sophie Julia , Philippe Khau Van Kien , Marine Legendre , K H Le Quan Sang , Bruno Leheup , Stanislas Lyonnet , Virginie Magry , Sylvie Manouvrier , Dominique Martin , Godelieve Morel , Arnold Munnich , Sophie Naudion , Sylvie Odent , Laurence Perrin , Florence Petit , Nicole Philip , Marlène Rio , Julie Robbe , Massimiliano Rossi , Elisabeth Sarrazin , Annick Toutain , Julien Van Gils , Gabriella Vera , Alain Verloes , Sacha Weber , Sandra Whalen , Damien Sanlaville , Didier Lacombe , Nathalie Aladjidi , David Geneviève

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

American journal of human genetics
Avec: Raphael Carapito , Ekaterina L Ivanova , Aurore Morlon , Linyan Meng , Anne Molitor , Eva Erdmann , Bruno Kieffer , Angélique Pichot , Lydie Naegely , Aline Kolmer , Nicodème Paul , Antoine Hanauer , Frédéric Tran Mau-Them , Nolwenn Jean-Marçais , Susan M Hiatt , Gregory M Cooper , Tatiana Tvrdik , Alison M Muir , Clémantine Dimartino , Maya Chopra , Jeanne Amiel , Christopher T Gordon , Fabien Dutreux , Aurore Garde , Christel Thauvin-Robinet , Xia Wang , Magalie S Leduc , Meredith Phillips , Heather P Crawford , Mary K Kukolich , David Hunt , Victoria Harrison , Mira Kharbanda , Auteur inconnu , Auteur inconnu , Robert Smigiel , Nina Gold , Christina Y Hung , David H Viskochil , Sarah L Dugan , Pinar Bayrak-Toydemir , Géraldine Joly-Helas , Anne-Marie Guerrot , Caroline Schluth-Bolard , Marlène Rio , Ingrid M Wentzensen , Kirsty McWalter , Rhonda E Schnur , Andrea M Lewis , Seema R Lalani , Noël Mensah-Bonsu , Jocelyn Céraline , Zijie Sun , Rafal Ploski , Carlos A Bacino , Heather C Mefford , Laurence Faivre , Olaf Bodamer , Jamel Chelly , Bertrand Isidor , Seiamak Bahram

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

American journal of medical genetics. Part A
Avec: Caroline Dias , Rolph Pfundt , Tjitske Kleefstra , Janneke Shuurs-Hoeijmakers , Elles M J Boon , Johanna M van Hagen , Petra Zwijnenburg , Marjan M Weiss , Boris Keren , Cyril Mignot , Arnaud Isapof , Karin Weiss , Tova Hershkovitz , Maria Iascone , Silvia Maitz , René G Feichtinger , Dieter Kotzot , Johannes A Mayr , Tawfeg Ben-Omran , Laila Mahmoud , Lynn S Pais , Christopher A Walsh , Vandana Shashi , Jennifer A Sullivan , Nicholas Stong , Francois Lecoquierre , Anne-Marie Guerrot , Aude Charollais , Lance H Rodan

De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.

Arthritis & rheumatology (Hoboken, N.J.)
Avec: Camille Louvrier , Elma El Khouri , Martine Grall Lerosey , Pierre Quartier , Anne-Marie Guerrot , Brigitte Bader Meunier , Julie Chican , Malaïka Mohammad , Eman Assrawi , Aphrodite Daskalopoulou , Angela Arenas Garcia , Bruno Copin , William Piterboth , Florence Dastot Le Moal , Sonia A Karabina , Serge Amselem , Irina Giurgea

Severe Phenotype in Patients with Large Deletions of

Cancers
Avec: Laurence Pacot , Dominique Vidaud , Audrey Sabbagh , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier , Théodora Maillard , Cécile Barbance , Fanny Morice-Picard , Sabine Sigaudy , Olga O Glazunova , Lena Damaj , Valérie Layet , Chloé Quelin , Brigitte Gilbert-Dussardier , Frédérique Audic , Hélène Dollfus , Anne-Marie Guerrot , James Lespinasse , Sophie Julia , Marie-Christine Vantyghem , Magali Drouard , Marilyn Lackmy , Bruno Leheup , Yves Alembik , Alexia Lemaire , Patrick Nitschké , Florence Petit , Anne Dieux Coeslier , Eugénie Mutez , Alain Taieb , Mélanie Fradin , Yline Capri , Hala Nasser , Lyse Ruaud , Benjamin Dauriat , Sylvie Bourthoumieu , David Geneviève , Séverine Audebert-Bellanger , Mathilde Nizon , Radka Stoeva , Geoffroy Hickman , Gaël Nicolas , Juliette Mazereeuw-Hautier , Arnaud Jannic , Salah Ferkal , Béatrice Parfait , Michel Vidaud , Members Of The Nf France Network , Pierre Wolkenstein , Eric Pasmant

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

American journal of medical genetics. Part A
Avec: Lauren O'Grady , Samantha A Schrier Vergano , Trevor L Hoffman , Dean Sarco , Sara Cherny , Emily Bryant , Laura Schultz-Rogers , Wendy K Chung , Stephanie Sacharow , Ladonna L Immken , Susan Holder , Rebecca R Blackwell , Catherine Buchanan , Roman Yusupov , François Lecoquierre , Anne-Marie Guerrot , Lance Rodan , Bert B A de Vries , Erik Jan Kamsteeg , Fernando Santos Simarro , Maria Palomares-Bralo , Natasha Brown , Lynn Pais , Alejandro Ferrer , Eric W Klee , Dusica Babovic-Vuksanovic , Lindsay Rhodes , Richard Person , Amber Begtrup , Jennifer Keller-Ramey , Teresa Santiago-Sim , Rhonda E Schnur , David A Sweetser , Nina B Gold

Loss-of-function variants in

medRxiv : the preprint server for health sciences
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

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.

American journal of medical genetics. Part A
Avec: Guillaume Jedraszak , Florence Jobic , Aline Receveur , Frédéric Bilan , Brigitte Gilbert-Dussardier , Busa Tiffany , Chantal Missirian , Marjolaine Willems , Sylvie Odent , Josette Lucas , Christele Dubourg , Elise Schaefer , Sophie Scheidecker , James Lespinasse , Alice Goldenberg , Anne-Marie Guerrot , Géraldine Joly-Helas , Pascal Chambon , Cédric Le Caignec , Albert David , Charles Coutton , Véronique Satre , Gaëlle Vieville , Florence Amblard , Radu Harbuz , Damien Sanlaville , Marianne Till , Catherine Vincent-Delorme , Cindy Colson , Joris Andrieux , Sophie Naudion , Jérome Toutain , Caroline Rooryck , Bénédicte de Fréminville , Fabienne Prieur , Valérie Cormier Daire , Daniel Amram , Pascale Kleinfinger , Matthias B Schulze , Gisela Raabe-Meyer , Carolina Courage , Johannes Lemke , Eunice G Stefanou , Thomaidis Loretta , Manolakos Emmanouil , Sophia Kitsiou Tzeli , Henryka Sodowska , Jasen Anderson , Adayapalam Nandini , Henri Copin , Loïc Garçon , Thomas Liehr , Gilles Morin

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

Journal of medical genetics
Avec: Mathilde Lefebvre , Ange-Line Bruel , Emilie Tisserant , Nicolas Bourgon , Yannis Duffourd , Sophie Collardeau-Frachon , Tania Attie-Bitach , Paul Kuentz , Mirna Assoum , Elise Schaefer , Salima El Chehadeh , Maria Cristina Antal , Valérie Kremer , Françoise Girard-Lemaitre , Jean-Louis Mandel , Daphne Lehalle , Sophie Nambot , Nolwenn Jean-Marçais , Nada Houcinat , Sébastien Moutton , Nathalie Marle , Laetita Lambert , Philippe Jonveaux , Bernard Foliguet , Jean-Pierre Mazutti , Dominique Gaillard , Elisabeth Alanio , Celine Poirisier , Anne-Sophie Lebre , Marion Aubert-Lenoir , Francine Arbez-Gindre , Sylvie Odent , Chloé Quélin , Philippe Loget , Melanie Fradin , Marjolaine Willems , Nicole Bigi , Marie-José Perez , Sophie Blesson , Christine Francannet , Anne-Marie Beaufrere , Sophie Patrier-Sallebert , Anne-Marie Guerrot , Alice Goldenberg , Anne-Claire Brehin , James Lespinasse , Renaud Touraine , Yline Capri , Marie-Hélène Saint-Frison , Nicole Laurent , Christophe Philippe , Frederic Tran Mau-Them , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Antonio Vitobello

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

Journal of medical genetics
Avec: Caroline Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , Alexandra Afenjar , Florence Amblard , Jeanne Amiel , Sophie Blesson , Patrick Callier , Yline Capri , Patrick Collignon , Marie-Pierre Cordier , Christine Coubes , Benedicte Demeer , Annabelle Chaussenot , Florence Demurger , Françoise Devillard , Martine Doco-Fenzy , Céline Dupont , Jean-Michel Dupont , Sophie Dupuis-Girod , Laurence Faivre , Brigitte Gilbert-Dussardier , Anne-Marie Guerrot , Marine Houlier , Bertrand Isidor , Sylvie Jaillard , Géraldine Joly-Hélas , Valérie Kremer , Didier Lacombe , Cédric Le Caignec , Aziza Lebbar , Marine Lebrun , Gaetan Lesca , James Lespinasse , Jonathan Levy , Valérie Malan , Michele Mathieu-Dramard , Julie Masson , Alice Masurel-Paulet , Cyril Mignot , Chantal Missirian , Fanny Morice-Picard , Sébastien Moutton , Gwenaël Nadeau , Céline Pebrel-Richard , Sylvie Odent , Véronique Paquis-Flucklinger , Laurent Pasquier , Nicole Philip , Morgane Plutino , Linda Pons , Marie-France Portnoï , Fabienne Prieur , Jacques Puechberty , Audrey Putoux , Marlène Rio , Caroline Rooryck-Thambo , Massimiliano Rossi , Catherine Sarret , Véronique Satre , Jean-Pierre Siffroi , Marianne Till , Renaud Touraine , Annick Toutain , Jérome Toutain , Stéphanie Valence , Alain Verloes , Sandra Whalen , Patrick Edery , Anne-Claude Tabet , Damien Sanlaville

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 , Pascale Saugier-Veber , Anne Boland , Jean-François Deleuze , Robert Olaso , Thierry Frebourg , Gael Nicolas , Olivier Guillin , Dominique Campion

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.

Journal of clinical medicine
Avec: Ivana Dabaj , Adnan Hassani , Lydie Burglen , Leila Qebibo , Anne-Marie Guerrot , Stéphane Marret , Abdellah Tebani , Soumeya Bekri

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

EBioMedicine
Avec: Abdelkader Heddar , Cagri Ogur , Sabrina Da Costa , Inès Braham , Line Billaud-Rist , Necati Findikli , Claire Beneteau , Rachel Reynaud , Khaled Mahmoud , Stéphanie Legrand , Maud Marchand , Isabelle Cedrin-Durnerin , Adèle Cantalloube , Maeliss Peigne , Marion Bretault , Benedicte Dagher-Hayeck , Sandrine Perol , Celine Droumaguet , Sabri Cavkaytar , Carole Nicolas-Bonne , Hanen Elloumi , Mohamed Khrouf , Charlotte Rougier-LeMasle , Melanie Fradin , Elsa Le Boette , Perrine Luigi , Anne-Marie Guerrot , Emmanuelle Ginglinger , Amandine Zampa , Anais Fauconnier , Nathalie Auger , Françoise Paris , Elise Brischoux-Boucher , Christelle Cabrol , Aurore Brun , Laura Guyon , Melanie Berard , Axelle Riviere , Nicolas Gruchy , Sylvie Odent , Brigitte Gilbert-Dussardier , Bertrand Isidor , Juliette Piard , Laetitia Lambert , Samir Hamamah , Anne Marie Guedj , Aude Brac de la Perriere , Hervé Fernandez , Marie-Laure Raffin-Sanson , Michel Polak , Hélène Letur , Sylvie Epelboin , Genevieve Plu-Bureau , Sławomir Wołczyński , Sylvie Hieronimus , Kristiina Aittomaki , Sophie Catteau-Jonard , Micheline Misrahi

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 , Pascale Saugier-Veber , Anne-Marie Guerrot , Gaël Nicolas

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 , Pascale Saugier-Veber , Anne-Marie Guerrot

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jérémie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria Del Mar Muniz Moreno , Imene Boujelbene , Nathalie Drouot , Loréline Genschik , Elise Schaefer , Mathilde Nizon , Bénédicte Gerard , Marc Abramowicz , Benjamin Cogné , Lucas Bronicki , Lydie Burglen , Magalie Barth , Perrine Charles , Estelle Colin , Christine Coubes , Albert David , Bruno Delobel , Florence Demurger , Sandrine Passemard , Anne-Sophie Denommé , Laurence Faivre , Claire Feger , Mélanie Fradin , Christine Francannet , David Genevieve , Alice Goldenberg , Anne-Marie Guerrot , Bertrand Isidor , Katrine M Johannesen , Boris Keren , Maria Kibæk , Paul Kuentz , Michèle Mathieu-Dramard , Bénédicte Demeer , Julia Metreau , Rikke Steensbjerre Møller , Sébastien Moutton , Laurent Pasquier , Kristina Pilekær Sørensen , Laurence Perrin , Mathilde Renaud , Pascale Saugier , Marlène Rio , Joane Svane , Julien Thevenon , Frédéric Tran Mau Them , Cathrine Elisabeth Tronhjem , Antonio Vitobello , Valérie Layet , Stéphane Auvin , Khaoula Khachnaoui , Marie-Christine Birling , Séverine Drunat , Allan Bayat , Christèle Dubourg , Salima El Chehadeh , Christina Fagerberg , Cyril Mignot , Michel Guipponi , Thierry Bienvenu , Yann Herault , Julie Thompson , Marjolaine Willems , Jean-Louis Mandel , Rosanna Weksberg , Amélie Piton

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 , Pascale Saugier-Veber , 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

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Prenatal diagnosis
Avec: Christel Thauvin-Robinet , Aurore Garde , Julian Delanne , Caroline Racine , Thierry Rousseau , Emmanuel Simon , Michel François , Sebastien Moutton , Odent Sylvie , Chloe Quelin , Godelieve Morel , Alice Goldenberg , Anne-Marie Guerrot , Gabriella Vera , Nicolas Gruchy , Cindy Colson , Odile Boute , Carine Abel , Audrey Putoux , Jeanne Amiel , Agnes Guichet , Bertrand Isidor , Caroline Deiller , Constance Wells , Caroline Rooryck , Marine Legendre , Christine Francannet , Rodolphe Dard , Sabine Sigaudy , Ange-Line Bruel , Hana Safraou , Anne-Sophie Denommé-Pichon , Sophie Nambot , Marie-Laure Humbert Asensio , Christine Binquet , Yannis Duffourd , Antonio Vitobello , Christophe Philippe , Laurence Faivre , Frédéric Tran-Mau-Them , Nicolas Bourgon

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

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Giuseppe Zampino 1 collaboration
Saskia B Wortmann 1 collaboration