Anne Guimier

Affiliations
  • Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.

Publications (16)

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics
Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Benjamin Cogné , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Isabelle Marey , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

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

American journal of human genetics
Avec: Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard , Thomas Garcia , Slavé Petrovski , Shiri Avni , Kirsty McWalter , Patrick R Blackburn , Stephan J Sanders , Kévin Uguen , Jacqueline Harris , Julie S Cohen , Moira Blyth , Anna Lehman , Jonathan Berg , Mindy H Li , Usha Kini , Shelagh Joss , Charlotte von der Lippe , Christopher T Gordon , Jennifer B Humberson , Laurie Robak , Daryl A Scott , Vernon R Sutton , Cara M Skraban , Jennifer J Johnston , Annapurna Poduri , Magnus Nordenskjöld , Vandana Shashi , Erica H Gerkes , Ernie M H F Bongers , Christian Gilissen , Yuri A Zarate , Malin Kvarnung , Kevin P Lally , Peggy A Kulch , Brina Daniels , Andres Hernandez-Garcia , Nicholas Stong , Julie McGaughran , Kyle Retterer , Kristian Tveten , Jennifer Sullivan , Madeleine R Geisheker , Asbjorg Stray-Pedersen , Jennifer M Tarpinian , Eric W Klee , Julie C Sapp , Jacob Zyskind , Øystein L Holla , Emma Bedoukian , Francesca Filippini , Anne Guimier , Arnaud Picard , Øyvind L Busk , Jaya Punetha , Rolph Pfundt , Anna Lindstrand , Ann Nordgren , Fayth Kalb , Megha Desai , Ashley Harmon Ebanks , Shalini N Jhangiani , Tammie Dewan , Zeynep H Coban Akdemir , Aida Telegrafi , Elaine H Zackai , Amber Begtrup , Xiaofei Song , Annick Toutain , Ingrid M Wentzensen , Sylvie Odent , Dominique Bonneau , Xénia Latypova , Wallid Deb , Auteur inconnu , Sylvia Redon , Frédéric Bilan , Marine Legendre , Caitlin Troyer , Kerri Whitlock , Oana Caluseriu , Marine I Murphree , Pavel N Pichurin , Katherine Agre , Ralitza Gavrilova , Tuula Rinne , Meredith Park , Catherine Shain , Erin L Heinzen , Rui Xiao , Jeanne Amiel , Stanislas Lyonnet , Bertrand Isidor , Leslie G Biesecker , Dan Lowenstein , Jennifer E Posey , Anne-Sophie Denommé-Pichon , Auteur inconnu , Claude Férec , Xiang-Jiao Yang , Jill A Rosenfeld , Brigitte Gilbert-Dussardier , Séverine Audebert-Bellanger , Richard Redon , Holly A F Stessman , Christoffer Nellaker , Yaping Yang , James R Lupski , David B Goldstein , Evan E Eichler , Francois Bolduc , Stéphane Bézieau , Sébastien Küry , Philippe M Campeau

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 , Christine Coubes , 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

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

Réseau de co-auteurs

Jeanne Amiel 7 collaborations
Christopher T Gordon 4 collaborations
Marlène Rio 4 collaborations
Stanislas Lyonnet 4 collaborations
Benjamin Cogné 4 collaborations
Elaine H Zackai 3 collaborations
Laurence Faivre 3 collaborations
Bertrand Isidor 3 collaborations
Laurent Pasquier 3 collaborations
Elise Brischoux-Boucher 3 collaborations
Sylvie Odent 3 collaborations
Yuri A Zarate 2 collaborations
Emmanuelle Ranza 2 collaborations
Julien Thevenon 2 collaborations
Alma Kuechler 2 collaborations
Marie Hully 2 collaborations
Christine Bole-Feysot 2 collaborations
Sabine Sarnacki 2 collaborations
A Guimier 2 collaborations
Valérie Malan 2 collaborations
Valérie Cormier-Daire 2 collaborations
Daphné Lehalle 2 collaborations
Orly Elpeleg 2 collaborations
David Geneviève 2 collaborations
Paul Kuentz 2 collaborations
Shelagh Joss 2 collaborations
Mathilde Nizon 2 collaborations
Marie Vincent 2 collaborations
Thomas Besnard 2 collaborations
Siddharth Srivastava 2 collaborations
Jacqueline Harris 2 collaborations
Boris Keren 2 collaborations
Erica H Gerkes 2 collaborations
Alexandra Afenjar 2 collaborations
Oana Caluseriu 2 collaborations
Rolph Pfundt 2 collaborations
None None 2 collaborations
Frédéric Bilan 2 collaborations
Reza Maroofian 2 collaborations
Joseph G Gleeson 2 collaborations
Henry Houlden 2 collaborations
Cyril Mignot 2 collaborations
Audrey Putoux 2 collaborations
Maha S Zaki 2 collaborations
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