Christine Coubes

Affiliations
  • Département de Génétique Médicale, Maladies Rares Et Médecine Personnalisée, Centre de Référence Maladies Rares Anomalies du Développement Et Syndromes Malformatifs ADSOOR, CHU Montpellier, Montpellier, France.

Publications (46)

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Human genetics
Avec: Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel , Sophie Nambot , Steven A Kushner , Femke M S de Vrij , Daphné Lehalle , Nolwenn Jean-Marçais , François Lecoquierre , Julian Delanne , Julien Thevenon , Charlotte Poe , Thibaut Jouan , Martin Chevarin , David Geneviève , Marjolaine Willems , Nada Houcinat , Alice Masurel-Paulet , Anne-Laure Mosca-Boidron , Emilie Tisserant , Patrick Callier , Arthur Sorlin , Yannis Duffourd , Laurence Faivre , Christophe Philippe , Christel Thauvin-Robinet

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Victoria E R Parker , Kim M Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal L Oden , Leena De Silva , Julie C Sapp , Katrina Andrews , Marc Bardou , Kong Y Chen , Thomas N Darling , Elodie Gautier , Barry R Goldspiel , Smail Hadj-Rabia , Julie Harris , Georgios Kounidas , Parag Kumar , Marjorie J Lindhurst , Romaric Loffroy , Ludovic Martin , Alice Phan , Kristina I Rother , Brigitte C Widemann , Pamela L Wolters , Lucile Pinson , Marjolaine Willems , Catherine Vincent-Delorme , Auteur inconnu , Pierre Vabres , Robert K Semple , Leslie G Biesecker

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Annals of clinical and translational neurology
Avec: Julie Piarroux , Florence Riant , Véronique Humbertclaude , Ganaelle Remerand , Jessica Hadjadj , Franck Rejou , Lucile Pinson , Pierre Meyer , Agathe Roubertie

Neurology. Genetics
Avec: Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat , Rob P W Rouhl , Margot Reijnders , Sandra Whalen , Boris Keren , Julien Buratti , Thomas Courtin , Klaas J Wierenga , Bertrand Isidor , Amélie Piton , Laurence Faivre , Aurore Garde , Sébastien Moutton , Frédéric Tran-Mau-Them , Anne-Sophie Denommé-Pichon , Austin Larson , Michael J Esser , Juan Pablo Appendino , Walla Al-Hertani , Beatriz Gamboni , Alejandra Mampel , Lía Mayorga , Alessandro Orsini , Alice Bonuccelli , Agnese Suppiej , Julien Van-Gils , Julie Vogt , Simona Damioli , Lucio Giordano , Stephanie Moortgat , Elaine Wirrell , Sarah Hicks , Usha Kini , Nathan Noble , Helen Stewart , Shailesh Asakar , Julie S Cohen , SakkuBai R Naidu , Ashley Collier , Eva H Brilstra , Mindy H Li , Casey Brew , Stefania Bigoni , Davide Ognibene , Elisa Ballardini , Claudia Ruivenkamp , Raffaella Faggioli , Alexandra Afenjar , Diana Rodriguez , David Bick , Devorah Segal , David Coman , Boudewijn Gunning , Orrin Devinsky , Laurie A Demmer , Theresa Grebe , Dario Pruna , Ida Cursio , Lynn Greenhalgh , Claudio Graziano , Rahul Raman Singh , Gaetano Cantalupo , Marjolaine Willems , Sangeetha Yoganathan , Fernanda Góes , Richard J Leventer , Davide Colavito , Sara Olivotto , Barbara Scelsa , Andrea V Andrade , Kelly Ratke , Farha Tokarz , Atiya S Khan , Clothilde Ormieres , William Benko , Karen Keough , Sotirios Keros , Shanawaz Hussain , Ashlea Franques , Felicia Varsalone , Sabine Grønborg , Cyril Mignot , Delphine Heron , Caroline Nava , Arnaud Isapof , Felippe Borlot , Robyn Whitney , Anne Ronan , Nicola Foulds , Marta Somorai , John Brandsema , Katherine L Helbig , Ingo Helbig , Xilma R Ortiz-González , Holly Dubbs , Antonio Vitobello , Mel Anderson , Dominic Spadafore , David Hunt , Rikke S Møller , Guido Rubboli , Auteur inconnu

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 , 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

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mehdi Benkirane , Cecilia Marelli , Claire Guissart , Agathe Roubertie , Elizabeth Ollagnon , Ariane Choumert , Frédérique Fluchère , Fabienne Ory Magne , Yosra Halleb , Mathilde Renaud , Lise Larrieu , David Baux , Olivier Patat , Idriss Bousquet , Jean-Marie Ravel , Danielle Cuntz-Shadfar , Catherine Sarret , Xavier Ayrignac , Anne Rolland , Raoul Morales , Morgane Pointaux , Cathy Lieutard-Haag , Brice Laurens , Caroline Tillikete , Emilien Bernard , Martial Mallaret , Clarisse Carra-Dallière , Christine Tranchant , Pierre Meyer , Lena Damaj , Laurent Pasquier , Cecile Acquaviva , Annabelle Chaussenot , Bertrand Isidor , Karine Nguyen , William Camu , Alexandre Eusebio , Nicolas Carrière , Audrey Riquet , Eric Thouvenot , Victoria Gonzales , Emilie Carme , Shahram Attarian , Sylvie Odent , Anna Castrioto , Claire Ewenczyk , Perrine Charles , Laurent Kremer , Samira Sissaoui , Nadia Bahi-Buisson , Elsa Kaphan , Adrian Degardin , Bérénice Doray , Sophie Julia , Ganaëlle Remerand , Valerie Fraix , Lydia Abou Haidar , Leila Lazaro , Vincent Laugel , Frederic Villega , Cyril Charlin , Solène Frismand , Marinha Costa Moreira , Tatiana Witjas , Christine Francannet , Ulrike Walther-Louvier , Mélanie Fradin , Brigitte Chabrol , Joel Fluss , Eric Bieth , Giovanni Castelnovo , Sylvain Vergnet , Isabelle Meunier , Alain Verloes , Elise Brischoux-Boucher , David Geneviève , Nicolas Lebouc , Jean Phillipe Azulay , Mathieu Anheim , Cyril Goizet , François Rivier , Pierre Labauge , Patrick Calvas , Michel Koenig

DNA methylation episignature in Gabriele-de Vries syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Florian Cherik , Jack Reilly , Jennifer Kerkhof , Michael Levy , Haley McConkey , Mouna Barat-Houari , Kameryn M Butler , Jennifer A Lee , Gwenael Le Guyader , Raymond J Louie , Wesley G Patterson , Matthew L Tedder , Mads Bak , Trine Bjørg Hammer , William Craigen , Florence Démurger , Christèle Dubourg , Mélanie Fradin , Rachel Franciskovich , Eirik Frengen , Jennifer Friedman , Nathalie Ruiz Palares , Maria Iascone , Doriana Misceo , Pauline Monin , Sylvie Odent , Christophe Philippe , Flavien Rouxel , Veronica Saletti , Petter Strømme , Perla Cassayre Thulin , Bekim Sadikovic , David Genevieve

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Brain : a journal of neurology
Avec: Laura Cif , Diane Demailly , Jean-Pierre Lin , Katy E Barwick , Mario Sa , Lucia Abela , Sony Malhotra , Wui K Chong , Dora Steel , Alba Sanchis-Juan , Adeline Ngoh , Natalie Trump , Esther Meyer , Xavier Vasques , Julia Rankin , Meredith W Allain , Carolyn D Applegate , Sanaz Attaripour Isfahani , Julien Baleine , Bettina Balint , Jennifer A Bassetti , Emma L Baple , Kailash P Bhatia , Catherine Blanchet , Lydie Burglen , Gilles Cambonie , Emilie Chan Seng , Sandra Chantot Bastaraud , Fabienne Cyprien , Vincent d'Hardemare , Auteur inconnu , Asif Doja , Nathalie Dorison , Diane Doummar , Marisela E Dy-Hollins , Ellyn Farrelly , David R Fitzpatrick , Conor Fearon , Elizabeth L Fieg , Brent L Fogel , Eva B Forman , Rachel G Fox , Auteur inconnu , William A Gahl , Serena Galosi , Victoria Gonzalez , Tracey D Graves , Allison Gregory , Mark Hallett , Harutomo Hasegawa , Susan J Hayflick , Ada Hamosh , Marie Hully , Sandra Jansen , Suh Young Jeong , Joel B Krier , Sidney Krystal , Kishore R Kumar , Chloé Laurencin , Hane Lee , Gaetan Lesca , Laurence Lion François , Timothy Lynch , Neil Mahant , Julian A Martinez-Agosto , Christophe Milesi , Kelly A Mills , Michel Mondain , Hugo Morales-Briceno , Auteur inconnu , John R Ostergaard , Swasti Pal , Juan C Pallais , Frédérique Pavillard , Pierre-Francois Perrigault , Andrea K Petersen , Gustavo Polo , Gaetan Poulen , Tuula Rinne , Thomas Roujeau , Caleb Rogers , Agathe Roubertie , Michelle Sahagian , Elise Schaefer , Laila Selim , Richard Selway , Nutan Sharma , Rebecca Signer , Ariane G Soldatos , David A Stevenson , Fiona Stewart , Michel Tchan , Auteur inconnu , Ishwar C Verma , Bert B A de Vries , Jenny L Wilson , Derek A Wong , Raghda Zaitoun , Dolly Zhen , Anna Znaczko , Russell C Dale , Claudio M de Gusmão , Jennifer Friedman , Victor S C Fung , Mary D King , Shekeeb S Mohammad , Luis Rohena , Jeff L Waugh , Camilo Toro , F Lucy Raymond , Maya Topf , Philippe Coubes , Kathleen M Gorman , Manju A Kurian

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Journal of medical genetics
Avec: Clara Velmans , Anne H O'Donnell-Luria , Emanuela Argilli , Frederic Tran Mau-Them , Antonio Vitobello , Marcus Cy Chan , Jasmine Lee-Fong Fung , Megan Rech , Angela Abicht , Marion Aubert Mucca , Jason Carmichael , Nicolas Chassaing , Robin Clark , Anne-Sophie Denommé-Pichon , John Karl de Dios , Eleina England , Benoit Funalot , Marion Gerard , Maries Joseph , Colleen Kennedy , Camille Kumps , Marjolaine Willems , Ingrid M B H van de Laar , Coranne Aarts-Tesselaar , Marjon van Slegtenhorst , Daphné Lehalle , Kathleen Leppig , Lennart Lessmeier , Lynn S Pais , Heather Paterson , Subhadra Ramanathan , Lance H Rodan , Andrea Superti-Furga , Brian H Y Chung , Elliott Sherr , Christian Netzer , Christian P Schaaf , Florian Erger

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

American journal of medical genetics. Part A
Avec: Felix Marbach , Beata S Lipska-Ziętkiewicz , Agata Knurowska , Vincent Michaud , Henri Margot , James Lespinasse , Frédéric Tran Mau Them , Joohyun Park , Sarah Grosch , Cristiana Roggia , Ute Grasshoff , Louisa Kalsner , Anne-Sophie Denommé-Pichon , Alexandra Afenjar , Bénédicte Héron , Boris Keren , Pilar Caro , Christian P Schaaf

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.

European journal of human genetics : EJHG
Avec: Quentin Sabbagh , Marion Larrieux , Anouck Schneider , Corinne Theze , Marie-Claire Vincent , Jacques Puechberty , Sarah Renard , Michel Koenig , Franck Pellestor , Mireille Cossée , Vincent Gatinois

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Li Xin Zhang , Gabrielle Lemire , Claudia Gonzaga-Jauregui , Sirinart Molidperee , Carolina Galaz-Montoya , David S Liu , Alain Verloes , Amelle G Shillington , Kosuke Izumi , Alyssa L Ritter , Beth Keena , Elaine Zackai , Dong Li , Elizabeth Bhoj , Jennifer M Tarpinian , Emma Bedoukian , Mary K Kukolich , A Micheil Innes , Grace U Ediae , Sarah L Sawyer , Karippoth Mohandas Nair , Para Chottil Soumya , Kinattinkara R Subbaraman , Frank J Probst , Jennifer A Bassetti , Reid V Sutton , Richard A Gibbs , Chester Brown , Philip M Boone , Ingrid A Holm , Marco Tartaglia , Giovanni Battista Ferrero , Marcello Niceta , Maria Lisa Dentici , Francesca Clementina Radio , Boris Keren , Constance F Wells , Annie Laquerrière , Jacqueline Aziza , Charlotte Dubucs , Sheela Nampoothiri , David Mowat , Millan S Patel , Ana Bracho , Francisco Cammarata-Scalisi , Alper Gezdirici , Alberto Fernandez-Jaen , Natalie Hauser , Yuri A Zarate , Katherine A Bosanko , Klaus Dieterich , John C Carey , Jessica X Chong , Deborah A Nickerson , Michael J Bamshad , Brendan H Lee , Xiang-Jiao Yang , James R Lupski , Philippe M Campeau

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.

BMC medical genomics
Avec: Kevin Yauy , Anouck Schneider , Bee Ling Ng , Jean-Baptiste Gaillard , Satish Sati , Constance Wells , Magali Tournaire , Thomas Guignard , Pauline Bouret , David Geneviève , Jacques Puechberty , Franck Pellestor , Vincent Gatinois

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: François Lecoquierre , Yannis Duffourd , Antonio Vitobello , Ange-Line Bruel , Benoit Urteaga , Philippine Garret , Sophie Nambot , Martin Chevarin , Thibaud Jouan , Sébastien Moutton , Auteur inconnu , Frédéric Tran-Mau-Them , Christophe Philippe , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

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 , 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

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Clinical genetics
Avec: Aurore Garde , Laurent Guibaud , Alice Goldenberg , Florence Petit , Rodolphe Dard , Joelle Roume , Juliette Mazereeuw-Hautier , Nicolas Chassaing , Didier Lacombe , Fanny Morice-Picard , Annick Toutain , Stéphanie Arpin , Olivia Boccara , Renaud Touraine , Patricia Blanchet , Marjolaine Willems , Lucile Pinson , Philippe Khau Van Kien , Christine Chiaverini , Fabienne Giuliano , Jean-Luc Alessandri , Michèle Mathieu-Dramard , Gilles Morin , Anne-Claire Bursztejn , Cyril Mignot , Diane Doummar , Frederico Di Rocco , Jenny Cornaton , Claire Nicolas , Elodie Gautier , Maxime Luu , Marc Bardou , Arthur Sorlin , Christophe Philippe , Patrick Edery , Massimiliano Rossi , Virginie Carmignac , Christel Thauvin-Robinet , Pierre Vabres , Laurence Faivre

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.

European journal of human genetics : EJHG
Avec: Constance F Wells , Guilaine Boursier , Kevin Yauy , Nathalie Ruiz-Pallares , Déborah Mechin , Valentin Ruault , Mylène Tharreau , Patricia Blanchet , Lucile Pinson , Marc Fila , Julien Baleine , Odile Pidoux , Maliha Badr , Christophe Milesi , Gilles Cambonie , Renaud Mesnage , Maëlle Dereure , Olivier Ardouin , Thomas Guignard , David Geneviève , Mouna Barat-Houari , Marjolaine Willems

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.

American journal of human genetics
Avec: Alban Ziegler , Katharina Steindl , Ashleigh S Hanner , Rajesh Kumar Kar , Clément Prouteau , Anne Boland , Jean Francois Deleuze , Stéphane Bézieau , Sébastien Küry , Isabelle Maystadt , Morgane Le Mao , Guy Lenaers , Benjamin Navet , Laurence Faivre , Frédéric Tran Mau-Them , Paolo Zanoni , Wendy K Chung , Anita Rauch , Dominique Bonneau , Myung Hee Park

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

European journal of human genetics : EJHG
Avec: Alix Paulet , Cavan Bennett-Ness , Faustine Ageorges , Detlef Trost , Andrew Green , David Goudie , Rosalyn Jewell , Minna Kraatari-Tiri , Juliette Piard , Wayne Lam , Sally Ann Lynch , Groeschel Samuel , Francis Ramond , Joël Fluss , Christina Fagerberg , Charlotte Brasch Andersen , Konstantinos Varvagiannis , Tjitske Kleefstra , Bénédicte Gérard , Mélanie Fradin , Antonio Vitobello , Romano Tenconi , Anne-Sophie Denommé-Pichon , Aline Vincent-Devulder , Tobias Haack , Joseph A Marsh , Lone Walentin Laulund , Mona Grimmel , Angelika Riess , Elke de Boer , Sergio Padilla-Lopez , Somayeh Bakhtiari , Michael C Kruer , Jonathan Levy , Alain Verloes , Catherine M Abbott , Lyse Ruaud

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Human genetics
Avec: Pauline Arnaud , Caroline Racine , Nadine Hanna , Julien Thevenon , Jean-Luc Alessandri , Dominique Bonneau , Jill Clayton-Smith , Bruno Delobel , Sophie Dupuis-Girod , Laurent Gouya , Sylvie Odent , Virginie Carmignac , Christel Thauvin-Robinet , Carine Le Goff , Guillaume Jondeau , Catherine Boileau , Laurence Faivre

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

Journal of medical genetics
Avec: Martin Chevarin , Yannis Duffourd , Rebecca A Barnard , Sébastien Moutton , François Lecoquierre , Fatma Daoud , Paul Kuentz , Caroline Cabret , Julien Thevenon , Elodie Gautier , Patrick Callier , Judith St-Onge , Thibaud Jouan , Didier Lacombe , Marie Ange Delrue , Cyril Goizet , Fanny Morice-Picard , Julien Van-Gils , Arnold Munnich , Stanislas Lyonnet , Valérie Cormier-Daire , Geneviève Baujat , Muriel Holder , Florence Petit , Bruno Leheup , Sylvie Odent , Pierre-Simon Jouk , Gipsy Lopez , David Geneviève , Patrick Collignon , Dominique Martin-Coignard , Aurélia Jacquette , Laurence Perrin , Audrey Putoux , Elisabeth Sarrazin , Khadija Amarof , Isabelle Missotte , Sujatha Jagadeesh , Elisabetta Lapi , Florence Demurger , Alice Goldenberg , Martine Doco-Fenzy , Cyril Mignot , Delphine Héron , Nolwenn Jean-Marçais , Alice Masurel , Salima El Chehadeh , Nathalie Marle , Frédéric Huet , Christine Binquet , Gwenaëlle Collod-Beroud , Pauline Arnaud , Nadine Hanna , Catherine Boileau , Guillaume Jondeau , Robert Olaso , Doris Lechner , Charlotte Poe , Mirna Assoum , Virginie Carmignac , Laurence Duplomb , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Ange-Line Bruel , Anne Boland , Jean-François Deleuze , Christel Thauvin-Robinet , Jean-Baptiste Rivière , Brian J O'Roak , Laurence Faivre

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology
Avec: D Bessis , F Morice-Picard , E Bourrat , C Abadie , S Aouinti , C Baumann , M Best , A-C Bursztejn , Y Capri , C Chiaverini , C Coubes , F Giuliano , S Hadj-Rabia , M-L Jacquemont , D Lacombe , S Lyonnet , S Mallet , J Mazereeuw-Hautier , J Miquel , N Molinari , B Parfait , C Pernet , N Philip , L Pinson , N Pouvreau , Y Vial , P Sarda , S Sigaudy , A Verloes , H Cavé , D Geneviève

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

American journal of human genetics
Avec: Scott Bell , Justine Rousseau , Huashan Peng , Zahia Aouabed , Pierre Priam , Jean-Francois Theroux , Malvin Jefri , Arnaud Tanti , Hanrong Wu , Ilaria Kolobova , Heika Silviera , Karla Manzano-Vargas , Sophie Ehresmann , Fadi F Hamdan , Nuwan Hettige , Xin Zhang , Lilit Antonyan , Christina Nassif , Lina Ghaloul-Gonzalez , Jessica Sebastian , Jerry Vockley , Amber G Begtrup , Ingrid M Wentzensen , Amy Crunk , Robert D Nicholls , Kristin C Herman , Joshua L Deignan , Walla Al-Hertani , Stephanie Efthymiou , Vincenzo Salpietro , Noriko Miyake , Yoshio Makita , Naomichi Matsumoto , Rune Østern , Gunnar Houge , Maria Hafström , Emily Fassi , Henry Houlden , Jolien S Klein Wassink-Ruiter , Dominic Nelson , Amy Goldstein , Tabib Dabir , Julien van Gils , Thomas Bourgeron , Richard Delorme , Gregory M Cooper , Jose E Martinez , Candice R Finnila , Lionel Carmant , Anne Lortie , Renske Oegema , Koen van Gassen , Sarju G Mehta , Dagmar Huhle , Rami Abou Jamra , Sonja Martin , Han G Brunner , Dick Lindhout , Margaret Au , John M Graham , Gustavo Turecki , Simon Gravel , Naguib Mechawar , Elsa Rossignol , Jacques L Michaud , Julie Lessard , Carl Ernst , Philippe M Campeau

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Clinical genetics
Avec: Aurore Garde , Jenny Cornaton , Arthur Sorlin , Sébastien Moutton , Claire Nicolas , Christine Juif , David Geneviève , Laurence Perrin , Philippe Khau-Van-Kien , Thomas Smol , Catherine Vincent-Delorme , Bertrand Isidor , Benjamin Cogné , Alexandra Afenjar , Boris Keren , Fabienne Prieur , Annick Toutain , Yann Trousselet , Solène Bourgouin , Coralie Gonin-Olympiade , Kim Giraudat , Amélie Piton , Bénédicte Gérard , Sylvie Odent , Fanny Tessier , Lola Lemasson , Solveig Heide , Anne-Claire Gelineau , Catherine Sarret , Anne Miret , Elise Schaefer , Juliette Piard , Rémi Mathevet , Marion Boucon , Ange-Line Bruel , Frederic Tran Mau-Them , Martin Chevarin , Antonio Vitobello , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal of medical genetics
Avec: Quentin Testard , Xavier Vanhoye , Kevin Yauy , Marie-Emmanuelle Naud , Gaelle Vieville , Francis Rousseau , Benjamin Dauriat , Valentine Marquet , Sylvie Bourthoumieu , David Geneviève , Vincent Gatinois , Constance Wells , Marjolaine Willems , Lucile Pinson , Rodolphe Dard , Aude Tessier , Bérénice Hervé , François Vialard , Ines Harzallah , Renaud Touraine , Benjamin Cogné , Wallid Deb , Thomas Besnard , Olivier Pichon , Béatrice Laudier , Laurent Mesnard , Alice Doreille , Tiffany Busa , Chantal Missirian , Véronique Satre , Charles Coutton , Tristan Celse , Radu Harbuz , Laure Raymond , Jean-François Taly , Julien Thevenon

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Clinical genetics
Avec: Laurence Faivre , Jean-Charles Crépin , Manon Réda , Sophie Nambot , Virginie Carmignac , Caroline Abadie , Tristan Mirault , Cécile Faure-Conter , Juliette Mazereeuw-Hautier , Aude Maza , Eve Puzenat , Marie-Agnès Collonge-Rame , Anne-Claire Bursztejn , Christophe Philippe , Christel Thauvin-Robinet , Martin Chevarin , Claire Abasq-Thomas , Jeanne Amiel , Stéphanie Arpin , Sébastien Barbarot , Geneviève Baujat , Didier Bessis , Emmanuelle Bourrat , Odile Boute , Nicolas Chassaing , Bénédicte Demeer , Patrick Edery , Salima El Chehadeh , Alice Goldenberg , Smail Hadj-Rabia , Damien Haye , Bertrand Isidor , Marie-Line Jacquemont , Philippe Khau Van Kien , Didier Lacombe , Daphné Lehalle , Laetitia Lambert , Ludovic Martin , Annabel Maruani , Fanny Morice-Picard , Florence Petit , Alice Phan , Lucile Pinson , Massimiliano Rossi , Renaud Touraine , Clémence Vanlerberghe , Marie Vincent , Catherine Vincent-Delorme , Sandra Whalen , Marjolaine Willems , Nathalie Marle , Virginie Verkarre , Christine Devalland , Mojgan Devouassoux-Shisheboran , Marine Abad , Nathalie Rioux-Leclercq , Bertille Bonniaud , Yannis Duffourd , Jehanne Martel , Christine Binquet , Paul Kuentz , Pierre Vabres

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

Journal of medical genetics
Avec: Hortense Thomas , Tom Alix , Émeline Renard , Mathilde Renaud , Justine Wourms , Stéphane Zuily , Bruno Leheup , David Geneviève , Natacha Dreumont , Emmanuelle Schmitt , Myriam Bronner , Marc Muller , Marion Divoux , Marion Wandzel , Jean-Marie Ravel , Mylène Dexheimer , Aurélie Becker , Virginie Roth , Marjolaine Willems , Gaëlle Vieville , Françoise Devillard , Élise Schaefer , Sarah Baer , Amélie Piton , Bénédicte Gérard , Marie Vincent , Mathilde Nizon , Benjamin Cogné , Lyse Ruaud , Nathalie Couque , Audrey Putoux , Patrick Edery , Gaëtan Lesca , Nicolas Chatron , Marianne Till , Laurence Faivre , Frédéric Tran-Mau-Them , Jean-Luc Alessandri , Marine Lebrun , Chloé Quélin , Sylvie Odent , Christèle Dubourg , Véronique David , Marie Faoucher , Cyril Mignot , Boris Keren , Élise Pisan , Alexandra Afenjar , Sophie Julia , Éric Bieth , Guillaume Banneau , Alice Goldenberg , Thomas Husson , Dominique Campion , François Lecoquierre , Gaël Nicolas , Camille Charbonnier , Anne De Saint Martin , Sophie Naudion , Manon Degoutin , Sophie Rondeau , Caroline Michot , Valérie Cormier-Daire , Abderrahim Oussalah , Carine Pourié , Laëtitia Lambert , Céline Bonnet

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elisa Cali , Tania Quirin , Clarissa Rocca , Stephanie Efthymiou , Antonella Riva , Dana Marafi , Maha S Zaki , Mohnish Suri , Roberto Dominguez , Hasnaa M Elbendary , Shahryar Alavi , Mohamed S Abdel-Hamid , Heba Morsy , Frederic Tran Mau-Them , Mathilde Nizon , Pavel Tesner , Lukáš Ryba , Faisal Zafar , Nuzhat Rana , Nebal W Saadi , Zahra Firoozfar , Pinar Gencpinar , Bulent Unay , Canan Ustun , Ange-Line Bruel , Jennifer Stefanich , Ozlem Sezer , Emanuele Agolini , Antonio Novelli , Gessica Vasco , Donatella Lettori , Mathieu Milh , Laurent Villard , Shimriet Zeidler , Henry Opperman , Vincent Strehlow , Mahmoud Y Issa , Hebatallah El Khassab , Prem Chand , Shahnaz Ibrahim , Ali Nejad-Rashidi , Mohammad Miryounesi , Pegah Larki , Jennifer Morrison , Ingrid Cristian , Isabelle Thiffault , Nicole L Bertsch , Grace J Noh , John Pappas , Ellen Moran , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Susan Hosseini , Mohammad Reza Abbaszadegan , Roseline Caumes , Lisenka E L M Vissers , Maedeh Neshatdoust , Mostafa Zohour Montazer , Elmostafa El Fahime , Christin Canavati , Lara Kamal , Moien Kanaan , Omar Askander , Victoria Voinova , Olga Levchenko , Shahzhad Haider , Sara S Halbach , Elias Rayana Maia , Salehi Mansoor , Jain Vivek , Sanjukta Tawde , Viveka Santhosh R Challa , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Lucas Alves Victor , Benito Pinero-Banos , Jennifer Hague , Heba Ahmed Ei-Awady , Adelia Maria de Miranda Henriques-Souza , Huma Arshad Cheema , Muhammad Nadeem Anjum , Sara Idkaidak , Firas Alqarajeh , Osama Atawneh , Hagar Mor-Shaked , Tamar Harel , Giovanni Zifarelli , Peter Bauer , Fernando Kok , Joao Paulo Kitajima , Fabiola Monteiro , Juliana Josahkian , Gaetan Lesca , Nicolas Chatron , Dorothe Ville , David Murphy , Jeffrey L Neul , Sureni V Mullegama , Amber Begtrup , Isabella Herman , Tadahiro Mitani , Jennifer E Posey , Chee Geap Tay , Iram Javed , Lucinda Carr , Farah Kanani , Fiona Beecroft , Lee Hane , Elsayed Abdelkreem , Milan Macek , Luciana Bispo , Marwa Abd Elmaksoud , Farzad Hashemi-Gorji , Davut Pehlivan , David J Amor , Rami Abou Jamra , Wendy K Chung , Eshan Karimiani Ghayoor , Philippe Campeau , Fowzan S Alkuraya , Alistair T Pagnamenta , Joseph Gleeson , James R Lupski , Pasquale Striano , Andres Moreno-De-Luca , Denis L J Lafontaine , Henry Houlden , Reza Maroofian

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sadegheh Haghshenas , Audrey Putoux , Jack Reilly , Michael A Levy , Raissa Relator , Sourav Ghosh , Jennifer Kerkhof , Haley McConkey , Patrick Edery , Gaetan Lesca , Alicia Besson , Marjolaine Willems , Nathalie Ruiz-Pallares , Mouna Barat-Houari , Eduardo F Tizzano , Irene Valenzuela , Quentin Sabbagh , Jill Clayton-Smith , Adam Jackson , James O'Sullivan , Rebecca Bromley , Siddharth Banka , David Genevieve , Bekim Sadikovic

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

American journal of human genetics
Avec: Maolei Gong , Jiayi Li , Zailong Qin , Matheus Vernet Machado Bressan Wilke , Yijun Liu , Qian Li , Haoran Liu , Chen Liang , Joel A Morales-Rosado , Ana S A Cohen , Susan S Hughes , Bonnie R Sullivan , Valerie Waddell , Marie-José H van den Boogaard , Richard H van Jaarsveld , Ellen van Binsbergen , Koen L van Gassen , Tianyun Wang , Susan M Hiatt , Michelle D Amaral , Whitley V Kelley , Jianbo Zhao , Weixing Feng , Changhong Ren , Yazhen Yu , Nicole J Boczek , Matthew J Ferber , Carrie Lahner , Sherr Elliott , Yiyan Ruan , Cyril Mignot , Boris Keren , Hua Xie , Xiaoyan Wang , Bernt Popp , Christiane Zweier , Juliette Piard , Frederic Tran Mau-Them , Hana Safraou , A Micheil Innes , Julie Gauthier , Jacques L Michaud , Daniel C Koboldt , Odent Sylvie , Marjolaine Willems , Wen-Hann Tan , Benjamin Cogne , Claudine Rieubland , Dominique Braun , Scott Douglas McLean , Konrad Platzer , Pia Zacher , Henry Oppermann , Lucie Evenepoel , Pierre Blanc , Laïla El Khattabi , Neshatul Haque , Nikita R Dsouza , Michael T Zimmermann , Raul Urrutia , Eric W Klee , Yiping Shen , Hongzhen Du , Leonard Rappaport , Chang-Mei Liu , Xiaoli Chen

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

American journal of medical genetics. Part A
Avec: Deepika D'Cunha Burkardt , Anna Zachariou , Chey Loveday , Clare L Allen , David J Amor , Anna Ardissone , Siddharth Banka , Alexia Bourgois , Cheryl Cytrynbaum , Laurence Faivre , Gerard Marion , Rachel Horton , Dieter Kotzot , Guillermo Lay-Son , Melissa Lees , Karen Low , Ho-Ming Luk , Paul Mark , Allyn McConkie-Rosell , Marie McDonald , John Pappas , Christophe Phillipe , Deborah Shears , Brian Skotko , Fiona Stewart , Helen Stewart , I Karen Temple , Frederic T Mau-Them , Ricardo A Verdugo , Rosanna Weksberg , Yuri A Zarate , John M Graham , Katrina Tatton-Brown

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The British journal of dermatology
Avec: D Bessis , J Miquel , E Bourrat , C Chiaverini , F Morice-Picard , C Abadie , F Manna , C Baumann , M Best , P Blanchet , A-C Bursztejn , Y Capri , C Coubes , F Giuliano , S Guillaumont , S Hadj-Rabia , M-L Jacquemont , C Jeandel , D Lacombe , S Mallet , J Mazereeuw-Hautier , N Molinari , V Pallure , C Pernet , N Philip , L Pinson , P Sarda , S Sigaudy , Y Vial , M Willems , D Geneviève , A Verloes , H Cavé

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Daisy Rymen , Martijn Lindhout , Maria Spanou , Farah Ashrafzadeh , Ira Benkel , Cornelia Betzler , Hans Hartmann , Julie D Kaplan , Diana Ballhausen , Johannes Koch , Jan Lotte , Mohammad Hasan Mohammadi , Marianne Rohrbach , Argirios Dinopoulos , Marieke Wermuth , Daniel Willis , Karin Brugger , Ron A Wevers , Eugen Boltshauser , Jörgen Bierau , Johannes A Mayr , Saskia B Wortmann

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

European journal of human genetics : EJHG
Avec: Bertrand Chesneau , Aurélie Plancke , Guillaume Rolland , Nicolas Chassaing , Elise Brischoux-Boucher , Thomas Edouard , Yves Dulac , Marion Aubert-Mucca , Thierry Lavabre-Bertrand , Julie Plaisancié , Philippe Khau Van Kien

DLG4-related synaptopathy: a new rare brain disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Agustí Rodríguez-Palmero , Melissa Maria Boerrigter , David Gómez-Andrés , Kimberly A Aldinger , Íñigo Marcos-Alcalde , Bernt Popp , David B Everman , Alysia Kern Lovgren , Stephanie Arpin , Vahid Bahrambeigi , Gea Beunders , Anne-Marie Bisgaard , V A Bjerregaard , Ange-Line Bruel , Thomas D Challman , Benjamin Cogné , Stella A de Man , Anne-Sophie Denommé-Pichon , Thomas J Dye , Frances Elmslie , Lars Feuk , Sixto García-Miñaúr , Tracy Gertler , Elisa Giorgio , Nicolas Gruchy , Tobias B Haack , Chad R Haldeman-Englert , Bjørn Ivar Haukanes , Juliane Hoyer , Anna C E Hurst , Bertrand Isidor , Maria Johansson Soller , Sulagna Kushary , Malin Kvarnung , Yuval E Landau , Kathleen A Leppig , Anna Lindstrand , Lotte Kleinendorst , Alex MacKenzie , Giorgia Mandrile , Bryce A Mendelsohn , Setareh Moghadasi , Jenny E Morton , Sebastien Moutton , Amelie J Müller , Melanie O'Leary , Marta Pacio-Míguez , Maria Palomares-Bralo , Sumit Parikh , Rolph Pfundt , Ben Pode-Shakked , Anita Rauch , Elena Repnikova , Anya Revah-Politi , Meredith J Ross , Claudia A L Ruivenkamp , Elisabeth Sarrazin , Juliann M Savatt , Agatha Schlüter , Bitten Schönewolf-Greulich , Zohra Shad , Charles Shaw-Smith , Joseph T Shieh , Motti Shohat , Stephanie Spranger , Heidi Thiese , Frederic Tran Mau-Them , Bregje van Bon , Ineke van de Burgt , Ingrid M B H van de Laar , Esmée van Drie , Mieke M van Haelst , Conny M van Ravenswaaij-Arts , Edgard Verdura , Antonio Vitobello , Stephan Waldmüller , Sharon Whiting , Christiane Zweier , Carlos E Prada , Bert B A de Vries , William B Dobyns , Simone F Reiter , Paulino Gómez-Puertas , Aurora Pujol , Zeynep Tümer

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Human mutation
Avec: Leïla Ghesh , Thomas Besnard , Mathilde Nizon , Eva Trochu , Gaëlle Landeau-Trottier , Flora Breheret , Christel Thauvin-Robinet , Ange-Line Bruel , Paul Kuentz , Laurence Cuisset , Cyril Mignot , Boris Keren , Stéphane Bézieau , Benjamin Cogné

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR
Avec: P A Mulder , I D C van Balkom , A M Landlust , M Priolo , L A Menke , I H Acero , F S Alkuraya , P Arias , L Bernardini , E K Bijlsma , T Cole , C Coubes , I Dapia , S Davies , N Di Donato , N H Elcioglu , J A Fahrner , A Foster , N G González , I Huber , M Iascone , A-S Kaiser , A Kamath , K Kooblall , P Lapunzina , J Liebelt , S A Lynch , S M Maas , C Mammì , I B Mathijssen , S McKee , G M Mirzaa , T Montgomery , D Neubauer , T E Neumann , L Pintomalli , M A Pisanti , A S Plomp , S Price , C Salter , F Santos-Simarro , P Sarda , D Schanze , M Segovia , C Shaw-Smith , S Smithson , M Suri , K Tatton-Brown , J Tenorio , R V Thakker , R M Valdez , A Van Haeringen , J M Van Hagen , M Zenker , M Zollino , W W Dunn , S Piening , R C Hennekam

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 , Pascale Saugier-Veber , 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 , 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

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 , 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

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients.

Annales de dermatologie et de venereologie
Avec: L-P Secco , C Coubes , P Meyer , L Chenine , A Roubertie , M-C Malinge , D Bessis

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 , 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 , Pascale Saugier-Veber , 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

Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.

Investigative ophthalmology & visual science
Avec: Marjolaine Willems , Constance F Wells , Marie Pequignot , Alison Kuony , Frederic Michon

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

American journal of medical genetics. Part A
Avec: Clémence Jacquin , Emilie Landais , Céline Poirsier , Alexandra Afenjar , Ahmad Akhavi , Nathalie Bednarek , Caroline Bénech , Adeline Bonnard , Damien Bosquet , Lydie Burglen , Patrick Callier , Sandra Chantot-Bastaraud , Charles Coutton , Bruno Delobel , Margaux Descharmes , Jean-Michel Dupont , Vincent Gatinois , Nicolas Gruchy , Sarah Guterman , Abdelkader Heddar , Lucas Herissant , Delphine Heron , Bertrand Isidor , Pauline Jaeger , Guillaume Jouret , Boris Keren , Paul Kuentz , Cedric Le Caignec , Jonathan Levy , Nathalie Lopez , Zoe Manssens , Dominique Martin-Coignard , Isabelle Marey , Cyril Mignot , Chantal Missirian , Céline Pebrel-Richard , Lucile Pinson , Jacques Puechberty , Sylvia Redon , Damien Sanlaville , Marta Spodenkiewicz , Anne-Claude Tabet , Alain Verloes , Gaelle Vieville , Catherine Yardin , François Vialard , Martine Doco-Fenzy

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

European journal of human genetics : EJHG
Avec: Camille Engel , Stéphanie Valence , Geoffroy Delplancq , Reza Maroofian , Andrea Accogli , Emanuele Agolini , Fowzan S Alkuraya , Valentina Baglioni , Irene Bagnasco , Mathilde Becmeur-Lefebvre , Enrico Bertini , Ingo Borggraefe , Elise Brischoux-Boucher , Ange-Line Bruel , Alfredo Brusco , Dalal K Bubshait , Christelle Cabrol , Maria Roberta Cilio , Marie-Coralie Cornet , Olivier Danhaive , Valérie Delague , Anne-Sophie Denommé-Pichon , Marilena Carmela Di Giacomo , Martine Doco-Fenzy , Hartmut Engels , Kirsten Cremer , Marion Gérard , Joseph G Gleeson , Delphine Heron , Joanna Goffeney , Anne Guimier , Frederike L Harms , Henry Houlden , Michele Iacomino , Rauan Kaiyrzhanov , Benjamin Kamien , Ehsan Ghayoor Karimiani , Dror Kraus , Paul Kuentz , Kerstin Kutsche , Damien Lederer , Lauren Massingham , Cyril Mignot , Déborah Morris-Rosendahl , Lakshmi Nagarajan , Sylvie Odent , Clothilde Ormières , Jennifer Neil Partlow , Laurent Pasquier , Lynette Penney , Christophe Philippe , Gianluca Piccolo , Cathryn Poulton , Audrey Putoux , Marlène Rio , Christelle Rougeot , Vincenzo Salpietro , Ingrid Scheffer , Amy Schneider , Siddharth Srivastava , Rachel Straussberg , Pasquale Striano , Enza Maria Valente , Perrine Venot , Laurent Villard , Antonio Vitobello , Johanna Wagner , Matias Wagner , Maha S Zaki , Federizo Zara , Gaetan Lesca , Vahid Reza Yassaee , Mohammad Miryounesi , Farzad Hashemi-Gorji , Mehran Beiraghi , Farah Ashrafzadeh , Hamid Galehdari , Christopher Walsh , Antonio Novelli , Moritz Tacke , Dinara Sadykova , Yerdan Maidyrov , Kairgali Koneev , Chingiz Shashkin , Valeria Capra , Mina Zamani , Lionel Van Maldergem , Lydie Burglen , Juliette Piard

Réseau de co-auteurs

Laurence Faivre 16 collaborations
Marjolaine Willems 14 collaborations
Cyril Mignot 14 collaborations
Boris Keren 13 collaborations
Ange-Line Bruel 12 collaborations
David Geneviève 11 collaborations
Antonio Vitobello 10 collaborations
Bertrand Isidor 10 collaborations
Christophe Philippe 9 collaborations
Christel Thauvin-Robinet 9 collaborations
None None 9 collaborations
Alexandra Afenjar 8 collaborations
Sylvie Odent 8 collaborations
Gaetan Lesca 8 collaborations
Audrey Putoux 8 collaborations
Lucile Pinson 7 collaborations
Anne-Sophie Denommé-Pichon 7 collaborations
Patrick Edery 7 collaborations
Alice Goldenberg 7 collaborations
Paul Kuentz 7 collaborations
Frederic Tran Mau-Them 6 collaborations
François Lecoquierre 6 collaborations
Sébastien Moutton 6 collaborations
Mathilde Nizon 6 collaborations
Benjamin Cogné 6 collaborations
Daphné Lehalle 5 collaborations
Julien Thevenon 5 collaborations
Martin Chevarin 5 collaborations
Amélie Piton 5 collaborations
Marlène Rio 5 collaborations
Mélanie Fradin 5 collaborations
Alain Verloes 5 collaborations
Christèle Dubourg 5 collaborations
Martine Doco-Fenzy 5 collaborations
Patrick Callier 4 collaborations
Arthur Sorlin 4 collaborations
Yannis Duffourd 4 collaborations
Agathe Roubertie 4 collaborations
Aurore Garde 4 collaborations
Delphine Heron 4 collaborations
Salima El Chehadeh 4 collaborations
Bénédicte Gérard 4 collaborations
Elise Schaefer 4 collaborations
Delphine Héron 4 collaborations
Arnold Munnich 4 collaborations
Giulia Barcia 4 collaborations
Thomas Smol 4 collaborations
Laurent Pasquier 4 collaborations
Lydie Burglen 4 collaborations
Philippe M Campeau 4 collaborations
Jacques L Michaud 4 collaborations
Laurent Villard 4 collaborations
Nicolas Chassaing 4 collaborations
Jacques Puechberty 4 collaborations
Vincent Gatinois 4 collaborations
Kevin Yauy 4 collaborations
Nicolas Chatron 4 collaborations
Didier Lacombe 4 collaborations
Fanny Morice-Picard 4 collaborations
Massimiliano Rossi 4 collaborations
Renaud Touraine 4 collaborations
Annick Toutain 4 collaborations
Florence Petit 4 collaborations
Jean-Luc Alessandri 4 collaborations
Virginie Carmignac 4 collaborations
Juliette Piard 4 collaborations
C Coubes 4 collaborations
Marie Vincent 4 collaborations
Sophie Nambot 3 collaborations
Elodie Gautier 3 collaborations
Catherine Vincent-Delorme 3 collaborations
Pierre Vabres 3 collaborations
Elena Gardella 3 collaborations
Sandra Whalen 3 collaborations
Julien Buratti 3 collaborations
Frédéric Tran-Mau-Them 3 collaborations
Caroline Nava 3 collaborations
Katherine L Helbig 3 collaborations
Ingo Helbig 3 collaborations
Rikke S Møller 3 collaborations
Anne-Marie Guerrot 3 collaborations
Frédéric Tran Mau-Them 3 collaborations
Diane Doummar 3 collaborations
Stéphanie Valence 3 collaborations
Charles Coutton 3 collaborations
Françoise Devillard 3 collaborations
Jeanne Amiel 3 collaborations
Sophie Rondeau 3 collaborations
Wendy K Chung 3 collaborations
Anne Boland 3 collaborations
Pascale Saugier-Veber 3 collaborations
Gaël Nicolas 3 collaborations
Mathilde Renaud 3 collaborations
Catherine Sarret 3 collaborations
Perrine Charles 3 collaborations
Elise Brischoux-Boucher 3 collaborations
Mouna Barat-Houari 3 collaborations
Bekim Sadikovic 3 collaborations
David Genevieve 3 collaborations
Marie-Line Jacquemont 3 collaborations
Mathieu Milh 3 collaborations
Thierry Bienvenu 3 collaborations
Julie Gauthier 3 collaborations
Fadi F Hamdan 3 collaborations
Damien Lederer 3 collaborations
Darina Prchalová 3 collaborations
Joelle Roume 3 collaborations
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