logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
Back
V

Valérie Cormier‐Daire

hôpital necker enfants malades ap-hp

99H-index
1.1KPaper Count
3.4WCitation Count
Published Papers 221
Publication Date
logo
Diagnosis of hypochondroplasia: international Delphi consensus recommendations
errNature Reviews Endocrinology
IF40
err2026-08-20
err0
PREAI
errAndrew Dauber; Moira S. Cheung; Julie Hoover-Fong; Svein Otto Fredwall; Moeenaldeen AlSayed; Silvio Boero; Alistair D. Calder; Valérie Cormier-Daire; Virginia Fano; Takuo Kubota; Philip Kunkel; Juan Llerena Junior; Mohamad Maghnie; Geert Mortier; Noriyuki Namba; Amaka C. Offiah; Keita Okada; Sérgio B. Sousa; Ravi Savarirayan
errShare
errSave
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
errEuropean Journal of Human Genetics
IF4.6
err2026-07-07
err0
PREAI
errMarion Aubert Mucca; Roberto Mendoza-Londono; Valérie Cormier-Daire; Thomas Edouard; Lucie Dupuis; Andrew W. Howard; Olivier Patat; Hanna Faghfoury; Josh Silver; Renaud Touraine; Philippe M. Campeau; Alban Ziegler
errShare
errSave
Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed
errGenetics in Medicine
IF6.2
err2026-06-19
err0
errOAAI
errSilvestre Cuinat; Valérie Cormier-Daire; Jeremie Rosain; Céline Huber; Elsa Ferriere; Benjamin Fournier; Morgane Cheminant; Martin Castelle; Paul Bastard; Nicolas Noel; Katia Bourdic; Capucine Picard; Despina Moshous; Virginie Courteille; Nizar Mahlaoui; Jacinta Bustamante; Gislène Collobert; Cyril Mignot; Boris Keren; Séverine Drunat
errShare
errSave
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance
erramerican journal of medical genetics part c: seminars in medical genetics
IF0
err2026-06-10
err0
errOAAI
errMariz Ebuen; Vasudevan Krishnan; Kathleen Irby; Ryan Monsberger; Rob J. Hopkin; Maggie R. Brand; Nora Friedman; Robyn P. Thom; Allan L. Reiss; Claudia Algaze; Jonathan A. Bernstein; Samantha Alexander; Valerie Cormier-Daire; Angela E. Lin; Suha Bachir
errShare
errSave
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
erramerican journal of medical genetics part c: seminars in medical genetics
IF0
err2026-06-10
err0
errOAAI
errCamille Viaut; Valerie Cormier-Daire
errShare
errSave
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
errGenome Medicine
IF11.2
err2026-04-08
err0
errOAAI
errAmandine Santini; Angelo Tognon; Anne-Claire Richard; Guillaume Velasco; Gilles Phan; Pauline Marzin; Fabien Maury; Angele May; Caroline Michot; Adela Chirita-Emandi; Jorge M. Saraiva; Maria Juliana Ballesta-Martinez; Stanislas Lyonnet; Ivona Sansović; Tahsin Stefan Barakat; Perrine Brunelle; Jamal Ghoumid; Xavier Le Guillou; Pauline Le Tanno; Marjolaine Willems; Martin Zenker; Ina Schanze; Stéphanie Moortgat; Bertrand Isidor; Alix Paulet; Alison Yeung; Jonathan Levy; Federica Ruscitti; Leticia Pias-Peleteiro; Marlène Rio; Thomas Courtin; Hamza Hadj Abdallah; Stéphanie Ducreux; Jean-Sérène Laloy; Paul Rollier; Anne-Marie Guerrot; Nicolas Chatron; Florence Demurger; Alice Goldenberg; Julian Delanne; Laurence Faivre; François Lecoquierre; Gaël Nicolas; Aurélie Coussement; Corinne Collet; Yvan Herenger; Matthieu Defrance; Valérie Cormier-Daire; Camille Charbonnier; Maud de Dieuleveult
errShare
errSave
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up
errEuropean Journal of Human Genetics
IF4.6
err2026-03-03
err0
errOAAI
errPerrine Brunelle; Anne-Sophie Jourdain; Fabienne Escande; Séverine Audebert-Bellanger; Sonia Bouquillon; Valérie Cormier-Daire; Alexandra Desdoits; Didier Lacombe; Arnaud Molin; Nicolas Gruchy; Renaud Touraine; Julien Van Gils; Jamal Ghoumid; Luc Thomes; Florence Petit
errShare
errSave
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
errJOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
err2025-12-01
err0
PREAI
errWebb, Ryan F.; McCurry, Hannah; Girod, Amanda; Hughes, Madeline; Wilcox, Emma; Patel, Mayher; Broeren, Eleanor C.; Tshering, Kezang C.; Distefano, Marina; Botto, Lorenzo D.; Burrage, Lindsay C.; Cormier-Daire, Valerie; Dong, Juan; Ehmke, Nadja; Krakow, Deborah; Moosa, Shahida; Mortier, Geert; Nagamani, Sandesh; Pena, Loren; Sanchez-Lara, Pedro A.; Superti-Furga, Andrea; Unger, Sheila; Velasco, Danita; Warman, Matthew L.; Brown, Kerry; D'Cunha Burkardt, Deepika; Ferreira, Carlos R.
errShare
errSave
Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-04
err0
errOAAI
errGenevieve Baujat; Marc-Antoine Hamandjian; Anne-Sophie Jannot; Pierre Karam; Valérie Cormier-Daire
errShare
errSave
Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-11-01
err1
PREAI
errBenichou, Ludovic; Breton, Luan; Garcelon, Nicolas; Benichou, Benjamin; Lienhard, Olivier; Amiel, Jeanne; Bongibault, Thomas; Hidalgo, Ana-julia Bravo; Cormier-Daire, Valerie; Lyonnet, Stanislas; Picard, Arnaud; Rio, Marlene; Zaiter, Ahmed; Khonsari, Roman H.; Hennocq, Quentin
errShare
errSave
Physiology of dentinogenesis and pathophysiology of dentinogenesis imperfecta: how does it affect dentin structure and biomechanics?
errActa Biomaterialia
IF9.6
err2025-10-08
err0
errOAAI
errMargot Charlotte Riou; Shangaya Touraivane; Ariane Berdal; Valérie Cormier-Daire; Benjamin PJ Fournier; Claire Acevedo; Muriel de la Dure-Molla; Elsa Vennat
errShare
errSave
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
errNature
IF48.5
err2025-08-20
err0
errOAAI
errJean Jacobs; Hristiana Lyubenova; Sven Potelle; Johannes Kopp; Isabelle Gerin; Wing Lee Chan; Miguel Rodriguez de los Santos; Wiebke Hülsemann; Martin A. Mensah; Valérie Cormier-Daire; Marieke Joosten; Hennie T. Bruggenwirth; Kyra E. Stuurman; Valancy Miranda; Philippe M. Campeau; Lars Wittler; Julie Graff; Stefan Mundlos; Daniel M. Ibrahim; Emile Van Schaftingen; Björn Fischer-Zirnsak; Uwe Kornak; Nadja Ehmke; Guido T. Bommer
errShare
errSave
Hospitalization for child physical abuse before hospitalization for osteogenesis imperfecta or severe hemophilia: A nationwide cohort study in France
errChild Abuse & Neglect
IF3.4
err2025-07-08
err0
errOAAI
errFlora Blangis; Yannick Girardeau; Marguerite Hamon-Pourquery de Boisserin; Valérie Cormier-Daire; Annie Harroche; Geneviève Baujat; Slimane Allali; Emmanuel Lecoeur; Nicolas Garcelon; Elise Launay; Anne-Sophie Jannot; Martin Chalumeau
errShare
errSave
Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome
errInternational Journal of Medical Informatics
IF4.1
err2025-06-21
err0
errOAAI
errCarole Faviez; Xiaomeng Wang; Marc Vincent; Nicolas Garcelon; Sophie Saunier; Valérie Cormier-Daire; Xiaoyi Chen; Anita Burgun
errShare
errSave
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-05-15
err0
errOAAI
errFauroux, Brigitte; Alsayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Boon, Mieke; Cormier-Daire, Valerie; Fredwall, Svein; Guillen-Navarro, Encarna; Irving, Melita; Kunkel, Philip; Madureira, Nuria; Maghnie, Mohamad; Milerad, Josef; Mohnike, Klaus; Mortier, Geert; Nobili, Lino; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B.
errShare
errSave
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-03-11
err0
errOAAI
errCavadias, Iphigenie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloe; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-dit-Maire, Pierre; Hadj-Rabia, Smail; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valerie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Veronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina
errShare
errSave
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-03-11
err0
errOAAI
errGuillen-Navarro, Encarna; Alsayed, Moeenaldeen; Alves, Ines; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fauroux, Brigitte; Fredwall, Svein; Irving, Melita; Kunkel, Philip; Lampe, Christian; Lausch, Ekkehart; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B.
errShare
errSave
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-03-01
err0
errOAAI
errHoudayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
errShare
errSave
Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program
errHORMONE RESEARCH IN PAEDIATRICS
IF2.7
err2025-01-25
err0
errOAAI
errCormier-Daire, Valerie; Isidor, Bertrand; Mukherjee, Swati; Pimenta, Jeanne M.; Rossi, Massimiliano; Schaefer, Elise; Sigaudy, Sabine; Baujat, Genevieve
errShare
errSave
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2025-01-11
err0
PREAI
errJeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
J
Jean‐Laurent Casanova
H-index: 171 · Papers: 1.4K
T
Thomas Meitinger
H-index: 168 · Papers: 957
L
Laurent Abel
H-index: 131 · Papers: 659
A
Arnold Münnich
H-index: 129 · Papers: 959
P
Peter Nürnberg
H-index: 127 · Papers: 755
View more