Klaus Dieterich

Affiliations

Medical Genetics, CHU Grenoble Alpes, Université Grenoble Alpes, Inserm, U1216, GIN, Grenoble, France.

Publications (7)

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 , Christine Coubes , 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 , John C Carey , Jessica X Chong , Deborah A Nickerson , Michael J Bamshad , Brendan H Lee , Xiang-Jiao Yang , James R Lupski , Philippe M Campeau

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

European journal of human genetics : EJHG

Avec: Aurélien Juven , Sophie Nambot , Amélie Piton , Nolwenn Jean-Marçais , Alice Masurel , Patrick Callier , Nathalie Marle , Anne-Laure Mosca-Boidron , Paul Kuentz , Christophe Philippe , Martin Chevarin , Yannis Duffourd , Elodie Gautier , Arnold Munnich , Marlène Rio , Sophie Rondeau , Salima El Chehadeh , Élise Schaefer , Bénédicte Gérard , Sonia Bouquillon , Catherine Vincent Delorme , Christine Francannet , Fanny Laffargue , Laetitia Gouas , Bertrand Isidor , Marie Vincent , Sophie Blesson , Fabienne Giuliano , Olivier Pichon , Cédric Le Caignec , Hubert Journel , Laurence Perrin-Sabourin , Jennifer Fabre-Teste , Dominique Martin , Gaelle Vieville , Didier Lacombe , Anne-Sophie Denommé-Pichon , Christel Thauvin-Robinet , Laurence Faivre

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

NPJ genomic medicine

Avec: Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Lévy , Julien Buratti , Alexandre Mathieu , Damien Haye , Laurence Perrin , Céline Dupont , Sandrine Passemard , Yline Capri , Alain Verloes , Séverine Drunat , Boris Keren , Cyril Mignot , Isabelle Marey , Aurélia Jacquette , Sandra Whalen , Eva Pipiras , Brigitte Benzacken , Sandra Chantot-Bastaraud , Alexandra Afenjar , Delphine Héron , Cédric Le Caignec , Claire Beneteau , Olivier Pichon , Bertrand Isidor , Albert David , Laila El Khattabi , Stephan Kemeny , Laetitia Gouas , Philippe Vago , Anne-Laure Mosca-Boidron , Laurence Faivre , Chantal Missirian , Nicole Philip , Damien Sanlaville , Patrick Edery , Véronique Satre , Charles Coutton , Françoise Devillard , Marie-Laure Vuillaume , Caroline Rooryck , Didier Lacombe , Lucile Pinson , Vincent Gatinois , Jacques Puechberty , Jean Chiesa , James Lespinasse , Christèle Dubourg , Chloé Quelin , Mélanie Fradin , Hubert Journel , Annick Toutain , Dominique Martin , Abdelamdjid Benmansour , Claire S Leblond , Roberto Toro , Frédérique Amsellem , Richard Delorme , Thomas Bourgeron

Amyoplasia and distal arthrogryposis.

Orthopaedics & traumatology, surgery & research : OTSR

Avec: Jacques Griffet , Véronique Bourg , Emeline Bourgeois

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Genes

Avec: Noémi Dahan-Oliel , Frank Rauch , Ghalib Bardai , Taylor N Blondell , Anxhela Gjyshi Gustafson , Reggie Hamdy , Xenia Latypova , Kamran Shazand , Philip F Giampietro , Harold van Bosse

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.

Neurogenetics

Avec: Xavière Lornage , Martial Mallaret , Roberto Silva-Rojas , Valérie Biancalana , Diane Giovannini , Safaa Saker , Jean-François Deleuze , Bernard Wuyam , Jocelyn Laporte , Johann Böhm

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

American journal of human genetics

Avec: Jessica X Chong , Jared C Talbot , Emily M Teets , Samantha Previs , Brit L Martin , Kathryn M Shively , Colby T Marvin , Arthur S Aylsworth , Reem Saadeh-Haddad , Ulrich A Schatz , Francesca Inzana , Tawfeg Ben-Omran , Fatima Almusafri , Mariam Al-Mulla , Kati J Buckingham , Tamar Harel , Hagar Mor-Shaked , Periyasamy Radhakrishnan , Katta M Girisha , Shalini S Nayak , Anju Shukla , Julien Faure , John Rendu , Yline Capri , Xenia Latypova , Deborah A Nickerson , David M Warshaw , Paul M L Janssen , Auteur inconnu , Sharon L Amacher , Michael J Bamshad

Réseau de co-auteurs

Alain Verloes 2 collaborations

Boris Keren 2 collaborations

Jessica X Chong 2 collaborations

Deborah A Nickerson 2 collaborations

Michael J Bamshad 2 collaborations

Anne-Laure Mosca-Boidron 2 collaborations

Laetitia Gouas 2 collaborations

Bertrand Isidor 2 collaborations

Olivier Pichon 2 collaborations

Cédric Le Caignec 2 collaborations

Hubert Journel 2 collaborations

Dominique Martin 2 collaborations

Didier Lacombe 2 collaborations

Laurence Faivre 2 collaborations

Yline Capri 2 collaborations

Xenia Latypova 2 collaborations

Li Xin Zhang 1 collaboration

Gabrielle Lemire 1 collaboration

Claudia Gonzaga-Jauregui 1 collaboration

Sirinart Molidperee 1 collaboration

Carolina Galaz-Montoya 1 collaboration

David S Liu 1 collaboration

Amelle G Shillington 1 collaboration

Kosuke Izumi 1 collaboration

Alyssa L Ritter 1 collaboration

Beth Keena 1 collaboration

Elaine Zackai 1 collaboration

Dong Li 1 collaboration

Elizabeth Bhoj 1 collaboration

Jennifer M Tarpinian 1 collaboration

Emma Bedoukian 1 collaboration

Mary K Kukolich 1 collaboration

A Micheil Innes 1 collaboration

Grace U Ediae 1 collaboration

Sarah L Sawyer 1 collaboration

Karippoth Mohandas Nair 1 collaboration

Para Chottil Soumya 1 collaboration

Kinattinkara R Subbaraman 1 collaboration

Frank J Probst 1 collaboration

Jennifer A Bassetti 1 collaboration

Reid V Sutton 1 collaboration

Richard A Gibbs 1 collaboration

Chester Brown 1 collaboration

Philip M Boone 1 collaboration

Ingrid A Holm 1 collaboration

Marco Tartaglia 1 collaboration

Giovanni Battista Ferrero 1 collaboration

Marcello Niceta 1 collaboration

Maria Lisa Dentici 1 collaboration

Francesca Clementina Radio 1 collaboration

Constance F Wells 1 collaboration

Christine Coubes 1 collaboration

Annie Laquerrière 1 collaboration

Jacqueline Aziza 1 collaboration

Charlotte Dubucs 1 collaboration

Sheela Nampoothiri 1 collaboration

David Mowat 1 collaboration

Millan S Patel 1 collaboration

Ana Bracho 1 collaboration

Francisco Cammarata-Scalisi 1 collaboration

Alper Gezdirici 1 collaboration

Alberto Fernandez-Jaen 1 collaboration

Natalie Hauser 1 collaboration

Yuri A Zarate 1 collaboration

Katherine A Bosanko 1 collaboration

John C Carey 1 collaboration

Brendan H Lee 1 collaboration

Xiang-Jiao Yang 1 collaboration

James R Lupski 1 collaboration

Philippe M Campeau 1 collaboration

Aurélien Juven 1 collaboration

Sophie Nambot 1 collaboration

Amélie Piton 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Alice Masurel 1 collaboration

Patrick Callier 1 collaboration

Nathalie Marle 1 collaboration

Paul Kuentz 1 collaboration

Christophe Philippe 1 collaboration

Martin Chevarin 1 collaboration

Yannis Duffourd 1 collaboration

Elodie Gautier 1 collaboration

Arnold Munnich 1 collaboration

Marlène Rio 1 collaboration

Sophie Rondeau 1 collaboration

Salima El Chehadeh 1 collaboration

Élise Schaefer 1 collaboration

Bénédicte Gérard 1 collaboration

Sonia Bouquillon 1 collaboration

Catherine Vincent Delorme 1 collaboration

Christine Francannet 1 collaboration

Fanny Laffargue 1 collaboration

Marie Vincent 1 collaboration

Sophie Blesson 1 collaboration

Fabienne Giuliano 1 collaboration

Laurence Perrin-Sabourin 1 collaboration

Jennifer Fabre-Teste 1 collaboration

Gaelle Vieville 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Anne-Claude Tabet 1 collaboration

Thomas Rolland 1 collaboration

Marie Ducloy 1 collaboration

Jonathan Lévy 1 collaboration

Julien Buratti 1 collaboration

Alexandre Mathieu 1 collaboration

Damien Haye 1 collaboration

Laurence Perrin 1 collaboration

Céline Dupont 1 collaboration

Sandrine Passemard 1 collaboration

Séverine Drunat 1 collaboration

Cyril Mignot 1 collaboration

Isabelle Marey 1 collaboration

Aurélia Jacquette 1 collaboration

Sandra Whalen 1 collaboration

Eva Pipiras 1 collaboration

Brigitte Benzacken 1 collaboration

Sandra Chantot-Bastaraud 1 collaboration

Alexandra Afenjar 1 collaboration

Delphine Héron 1 collaboration

Claire Beneteau 1 collaboration

Albert David 1 collaboration

Laila El Khattabi 1 collaboration

Stephan Kemeny 1 collaboration

Philippe Vago 1 collaboration

Chantal Missirian 1 collaboration

Nicole Philip 1 collaboration

Damien Sanlaville 1 collaboration

Patrick Edery 1 collaboration

Véronique Satre 1 collaboration

Charles Coutton 1 collaboration

Françoise Devillard 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Caroline Rooryck 1 collaboration

Lucile Pinson 1 collaboration

Vincent Gatinois 1 collaboration

Jacques Puechberty 1 collaboration

Jean Chiesa 1 collaboration

James Lespinasse 1 collaboration

Christèle Dubourg 1 collaboration

Chloé Quelin 1 collaboration

Mélanie Fradin 1 collaboration

Annick Toutain 1 collaboration

Abdelamdjid Benmansour 1 collaboration

Claire S Leblond 1 collaboration

Roberto Toro 1 collaboration

Frédérique Amsellem 1 collaboration

Richard Delorme 1 collaboration

Thomas Bourgeron 1 collaboration

Jacques Griffet 1 collaboration

Véronique Bourg 1 collaboration

Emeline Bourgeois 1 collaboration

Noémi Dahan-Oliel 1 collaboration

Frank Rauch 1 collaboration

Ghalib Bardai 1 collaboration

Taylor N Blondell 1 collaboration

Anxhela Gjyshi Gustafson 1 collaboration

Reggie Hamdy 1 collaboration

Kamran Shazand 1 collaboration

Philip F Giampietro 1 collaboration

Harold van Bosse 1 collaboration

Xavière Lornage 1 collaboration

Martial Mallaret 1 collaboration

Roberto Silva-Rojas 1 collaboration

Valérie Biancalana 1 collaboration

Diane Giovannini 1 collaboration

Safaa Saker 1 collaboration

Jean-François Deleuze 1 collaboration

Bernard Wuyam 1 collaboration

Jocelyn Laporte 1 collaboration

Johann Böhm 1 collaboration

Jared C Talbot 1 collaboration

Emily M Teets 1 collaboration

Samantha Previs 1 collaboration

Brit L Martin 1 collaboration

Kathryn M Shively 1 collaboration

Colby T Marvin 1 collaboration

Arthur S Aylsworth 1 collaboration

Reem Saadeh-Haddad 1 collaboration

Ulrich A Schatz 1 collaboration

Francesca Inzana 1 collaboration

Tawfeg Ben-Omran 1 collaboration

Fatima Almusafri 1 collaboration

Mariam Al-Mulla 1 collaboration

Kati J Buckingham 1 collaboration

Tamar Harel 1 collaboration

Hagar Mor-Shaked 1 collaboration

Periyasamy Radhakrishnan 1 collaboration

Katta M Girisha 1 collaboration

Shalini S Nayak 1 collaboration

Anju Shukla 1 collaboration

Julien Faure 1 collaboration

John Rendu 1 collaboration

David M Warshaw 1 collaboration

Paul M L Janssen 1 collaboration

None None 1 collaboration

Sharon L Amacher 1 collaboration