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V

Valérie Cormier‐Daire

necker-enfants malades hospitals

99H指数
1.1K论文数
3.4W被引数
收录论文 223
发表时间
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A phase 3, randomized, double-blind, placebo-controlled, multicenter study to evaluate the efficacy and safety of vosoritide in children with hypochondroplasia: CANOPY HCH-3 study designIII期、随机、双盲、安慰剂对照、多中心研究，旨在评估vosoritide在软骨发育不全儿童中的有效性和安全性：CANOPY HCH-3研究设计
errTherapeutic Advances in Endocrinology and Metabolism
IF4.6
err2026-09-02
err0
PREAI
errAndrew Dauber; Ravi Savarirayan; Ricki Carroll; Moira Cheung; Valérie Cormier-Daire; Mohamad Maghnie; Noriyuki Namba; Oliver Semler; Sajda Ghani; Ian Sabir; Roberto Bassi
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Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of TherapyMyhre 综合征：临床护理、研究与疗法探索的新视野
errAmerican Journal of Medical Genetics Part C-Seminars in Medical Genetics
IF4.4
err2026-09-01
err0
PREAI
errAngela E. Lin; Nicola Brunetti-Pierri; Valerie Cormier-Daire
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Diagnosis of hypochondroplasia: international Delphi consensus recommendations软骨发育不全的诊断：国际德尔菲共识建议
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
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Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia证实FGFR1最后一个外显子中的移码变异是多发骨骺发育不良的原因
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
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Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed扩展RNU4ATAC-opathies的临床谱：比预想的更频繁和多样
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
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Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric SurveillanceMyhre综合征中的精神病性特征：更广泛神经精神监测的证据
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
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Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench ResearchMyhre综合征的分子与发育基础的综述，实验室研究
erramerican journal of medical genetics part c: seminars in medical genetics
IF0
err2026-06-10
err0
errOAAI
errCamille Viaut; Valerie Cormier-Daire
err分享
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Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathiesCHD3相关Snijders Blok-Campeau综合征的表观特征识别揭示了CHARGE综合征表观特征的异质性：迈向对染色质病变更好的表征
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
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Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up甲营养不良综合征中的非编码基因组：遗传学诊断作为个性化随访的指导
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
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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework基于ClinGen注释框架的证据支持性骨骼疾病相关基因分类
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.
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Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis软骨发育不全和软骨发育不良性侏儒症在法国：一项全国性流行病学分析
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
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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
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Physiology of dentinogenesis and pathophysiology of dentinogenesis imperfecta: how does it affect dentin structure and biomechanics?牙本质形成的生理学及牙本质形成不全的病理生理学：它如何影响牙本质的结构和生物力学？
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
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A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia一种缺失的酶-拯救代谢物作为罕见骨骼发育不良的病因
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
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Hospitalization for child physical abuse before hospitalization for osteogenesis imperfecta or severe hemophilia: A nationwide cohort study in France因儿童躯体虐待住院先于因成骨不全症或重度血友病住院：一项在法国进行的国家队列研究
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
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Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome通过从电子健康记录叙述中利用深度表型分析增强罕见病检测：Jeune综合征评估
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
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Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum睡眠呼吸障碍在软骨发育不全中的管理：欧洲软骨发育不全论坛的指导原则
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.
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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
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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.
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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
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研究方向

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Jean‐Laurent Casanova
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