Klaus Dieterich

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 21

Top Venues

Developmental medicine and child neurology

American journal of medical genetics. Part A

American journal of medical genetics. Part C, Seminars in medical genetics

European journal of human genetics : EJHG

CHU Grenoble Alpes (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

CHU Grenoble Alpes

France

PHD :: Génétique et Procréation

Publications

Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I P De Vries, Harold Van Bosse, Daniel Natera-De Benito, Judith G Hall, Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan, Coleman Hilton, Noémi Dahan-Oliel
Common data elements for arthrogryposis multiplex congenita: An international framework. Developmental medicine and child neurology (2024)
Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I P De Vries, Harold Van Bosse, Daniel Natera de Benito, Judith G Hall, Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan, Coleman Hilton, Noemi Dahan-Oliel
Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international. Developmental medicine and child neurology (2024)
Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I P De Vries, Harold Van Bosse, Daniel Natera-De Benito, Judith G Hall, Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan, Coleman Hilton, Noemi Dahan-Oliel
Common data elements for arthrogryposis multiplex congenita: An international framework. Developmental medicine and child neurology (2024)
Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I P De Vries, Harold Van Bosse, Daniel Natera de Benito, Judith G Hall, Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan, Coleman Hilton, Noemi Dahan-Oliel
Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional. Developmental medicine and child neurology (2024)
Klaus Dieterich
Common data elements and minimum data sets in cerebral palsy: Start small to grow big. Developmental medicine and child neurology 64 (12) (2022)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid M B H van de Laar, Tartaglia Marco, Bekim Sadikovic, Anne-Sophie Lèbre
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome. International journal of molecular sciences 23 (3) (2022)
Pauline Le Tanno, Xenia Latypova, John Rendu, Julien Fauré, Véronique Bourg, Marjolaine Gauthier, Gipsy Billy-Lopez, Pierre-Simon Jouk, Klaus Dieterich
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations. Journal of medical genetics (2021)
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, Vincent Gatinois, Mouna Barat-Houari, Elodie Sanchez, Didier Lacombe, Stéphanie Arpin, Fabienne Giuliano, Damien Haye, Marlène Rio, Annick Toutain, Klaus Dieterich, Elise Brischoux-Boucher, Sophie Julia, Mathilde Nizon, Alexandra Afenjar, Boris Keren, Aurelia Jacquette, Sebastien Moutton, Marie-Line Jacquemont, Claire M Duflos, Yline Capri, Jeanne Amiel, Patricia Blanchet, Stanislas Lyonnet, Damien Sanlaville, David Genevieve
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt. European journal of human genetics : EJHG (2021)
Xenia Latypova, Stefan Giovanni Creadore, Noémi Dahan-Oliel, Anxhela Gjyshi Gustafson, Steven Wei-Hung Hwang, Tanya Bedard, Kamran Shazand, Harold J P van Bosse, Philip F Giampietro, Klaus Dieterich
A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita. Genes 12 (7) (2021)
Xavière Lornage, Martial Mallaret, Roberto Silva-Rojas, Valérie Biancalana, Diane Giovannini, Klaus Dieterich, Safaa Saker, Jean François Deleuze, Bernard Wuyam, Jocelyn Laporte, Johann Böhm
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy. Neurogenetics 22 (1) (2021)
Aurélien Juven, Sophie Nambot, Amelie 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, Klaus Dieterich, Didier Lacombe, Anne Sophie Denommé-Pichon, Christel Thauvin-Robinet, Laurence Faivre
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 28 (8) (2020)
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich, Tabib Dabir, Dina Vind-Kezunovic, Susan M White, Denes Zadori, Claudia Castiglioni, Lisbeth Tranebjærg, Pernille Mathiesen Tørring, Ed Blair, Marzena Wisniewska, Maria Vittoria Camurri, Yolande van Bever, Sirinart Molidperee, Juliet Taylor, Alexandre Dionne-Laporte, Sanjay M Sisodiya, Raoul C M Hennekam, Philippe M Campeau
DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genetics in medicine : official journal of the American College of Medical Genetics 23 (1) (2020)
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich, Tabib Dabir, Dina Vind-Kezunovic, Susan M White, Denes Zadori, Claudia Castiglioni, Lisbeth Tranebjærg, Pernille Mathiesen Tørring, Ed Blair, Marzena Wisniewska, Maria Vittoria Camurri, Yolande van Bever, Sirinart Molidperee, Juliet Taylor, Alexandre Dionne-Laporte, Sanjay M Sisodiya, Raoul C M Hennekam, Philippe M Campeau
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Brice Poreau, Francis Ramond, Radu Harbuz, Véronique Satre, Claire Barro, Claire Vettier, Véronique Adouard, Julien Thevenon, Pierre-Simon Jouk, Charles Coutton, Renaud Touraine, Klaus Dieterich
Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. American journal of medical genetics. Part A 179 (4) (2019)
Laura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, Marta G G de la Banda, Adrien Felter, Emili Inarejos, Anna Codina, Cristina Jou, Monica Roldan, Francesc Palau, Janet Hoenicka, Jordi Pijuan, Carlos Ortez, Jessica Expósito-Escudero, Chantal Durand, Frédérique Nugues, Cecilia Jimenez-Mallebrera, Jaume Colomer, Robert Y Carlier, Hanns Lochmüller, Susana Quijano-Roy, Andres Nascimento
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. American journal of medical genetics. Part A 179 (6) (2019)
Noemi Dahan-Oliel, Sarah Cachecho, Douglas Barnes, Tanya Bedard, Ann M Davison, Klaus Dieterich, Maureen Donohoe, Alicja Fąfara, Reggie Hamdy, Helgi T Hjartarson, Naimisha S Hoffman, Eva Kimber, Igor Komolkin, Ruth Lester, Eva Pontén, Harold J P van Bosse, Judith G Hall
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita. American journal of medical genetics. Part C, Seminars in medical genetics 181 (3) (2019)
Klaus Dieterich, Eva Kimber, Judith G Hall
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. American journal of medical genetics. Part C, Seminars in medical genetics 181 (3) (2019)
Klaus Dieterich, Pauline Le Tanno, Eva Kimber, Pierre-Simon Jouk, Judith Hall, Philip F Giampietro
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. American journal of medical genetics. Part C, Seminars in medical genetics 181 (3) (2019)
Judith G Hall, Eva Kimber, Klaus Dieterich
Classification of arthrogryposis. American journal of medical genetics. Part C, Seminars in medical genetics 181 (3) (2019)
Ebtesam Abdalla, Ahmed El-Beheiry, Klaus Dieterich, Julien Thevenon, Julien Fauré, John Rendu
"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement". American journal of medical genetics. Part A 176 (2) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Klaus Dieterich