Your account is not claimed yet. You can sign up with ORCID to claim your account.

Valerie Cormier-Daire (V Cormier-Daire, Valérie Cormier-Daire)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 15

Top Venues

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Genes

Orphanet journal of rare diseases

European journal of human genetics : EJHG

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

Publications

Kemelly Karolliny Moreira Resende, Margot Charlotte Riou, Paulo Marcio Yamaguti, Benjamin Philippe Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Rufino Felizardo, Juliana Forte Mazzeu, Valerie Cormier-Daire, Céline Gaucher, Ana Carolina Acevedo, Muriel De La Dure-Molla
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta. European journal of human genetics : EJHG (2023)
Patricia Pascual, Jair Antonio Tenorio Castaño, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, Maria Palomares-Bralo, Emi Rikeros, Feliciano J Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D'Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The Sogri Consortium, Julián Nevado, Pablo Lapunzina
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. Genes 14 (9) (2023)
Sinead NiMhurchadha, Karen Butler, Rob Argent, Katja Palm, Genevieve Baujat, Valerie Cormier-Daire, Klaus Mohnike
Parents' Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia. Advances in therapy (2023)
Laure Delhon, Zakaria Mougin, Jérémie Jonquet, Angélique Bibimbou, Johanne Dubail, Cynthia Bou-Chaaya, Nicolas Goudin, Wilfried Le Goff, Catherine Boileau, Valerie Cormier-Daire, Carine Le Goff
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification. Human molecular genetics 31 (22) (2022)
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B Sousa, Klaus Mohnike
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations. Orphanet journal of rare diseases 17 (1) (2022)
Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F C M Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valerie Cormier-Daire, Alexandre Benmerah, Outimaija Mäkitie
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (9) (2022)
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J Cullen, Shinji Saitoh, Kohji Kato
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome. Journal of medical genetics (2022)
M Mouillé, M Rio, S Breton, M L Piketty, A Afenjar, J Amiel, Y Capri, A Goldenberg, C Francannet, C Michot, C Mignot, L Perrin, C Quelin, J Van Gils, G Barcia, V Pingault, G Maruani, E Koumakis, Valerie Cormier-Daire
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients. Orphanet journal of rare diseases 17 (1) (2022)
Walid Haouari, Johanne Dubail, Christian Poüs, Valerie Cormier-Daire, Arnaud Bruneel
Inherited Proteoglycan Biosynthesis Defects-Current Laboratory Tools and Bikunin as a Promising Blood Biomarker. Genes 12 (11) (2021)
Alessandra Guasto, Valerie Cormier-Daire
Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia. International journal of molecular sciences 22 (9) (2021)
Emma Elizabeth Palmer, Chloe Whitton, Mais O Hashem, Robin D Clark, Subhadra Ramanathan, Lois J Starr, Danita Velasco, John Karl De Dios, Emily Singh, Valerie Cormier-Daire, Maya Chopra, Lance H Rodan, Christoffer Nellaker, Shenela Lakhani, Eric James Mallack, Karin Panzer, Alpa Sidhu, Ingrid M Wentzensen, Didier Lacombe, Vincent Michaud, Fowzan Sami Alkuraya
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clinical genetics 100 (4) (2021)
Pauline Marzin, Valerie Cormier-Daire
New perspectives on the treatment of skeletal dysplasia. Therapeutic advances in endocrinology and metabolism 11 (2020)
Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valerie Cormier-Daire
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (8) (2020)
Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valerie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outimaija Mäkitie
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 (2) (2020)
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, Claire Abasq-Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attie-Bitach, Nadia Bahi-Buisson, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Olivia Boccara, Maryse Bonnière, Odile Boute, Anne-Claire Bursztejn, Christine Chiaverini, Valerie Cormier-Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Genevieve, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jelena Martinovic, Annabel Maruani, Michèle Mathieu-Dramard, Juliette Mazereeuw-Hautier, Caroline Michot, Mignot Cyril, Juliette Miquel, Fanny Morice-Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloes, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphné Lehalle, Julien Thevenon, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres, Jean-Baptiste Rivière
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)

Valerie Cormier-Daire.css-eqlu8i{font-size:small;padding-left:4px;} (V Cormier-Daire, Valérie Cormier-Daire)

Publication Activity (10 Years)

Top Topics

Top Venues

Valerie Cormier-Daire (V Cormier-Daire, Valérie Cormier-Daire)