World's Best Scientists 2026 revealed!
Valérie Cormier-Daire

Valérie Cormier-Daire

Award Badge
Genetics
France
2024
Award Badge
Genetics and Molecular Biology
France
2024

D-Index & Metrics

Genetics

D-Index
105
Citations
34727
World Ranking
631
National Ranking
13

Medicine

D-Index
105
Citations
35802
World Ranking
6828
National Ranking
203

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Valérie Cormier-Daire is affiliated with Necker-Enfants Malades Hospital in France. Their research spans across multiple fields with a primary focus on the intersection of genetics and molecular biology as applied to rare diseases and skeletal disorders.

Their extensive publication record includes contributions to main fields of study such as Biochemistry, Genetics and Molecular Biology, with 227 publications, and Medicine, with 135 publications. More specifically, their work covers subfields including Genetics (137 publications), Molecular Biology (76 publications), Pulmonary and Respiratory Medicine (21 publications), Surgery (19 publications), and Oncology (19 publications).

The main research topics addressed by Valérie Cormier-Daire include:

  • Connective tissue disorders research
  • Genomics and Rare Diseases
  • Neonatal Respiratory Health Research
  • Bone health and treatments
  • Bone and Dental Protein Studies
  • Glycosylation and Glycoproteins Research
  • Genomic variations and chromosomal abnormalities

The scientist's frequent co-authors consist of:

  • Geneviève Baujat
  • Melita Irving
  • Klaus Mohnike
  • Stanislas Lyonnet
  • Céline Huber

Valérie Cormier-Daire has published extensively in specialized venues, often contributing to journals such as:

  • Orphanet Journal of Rare Diseases (17 publications)
  • Journal of Medical Genetics (8 publications)
  • American Journal of Medical Genetics Part A (7 publications)
  • Genetics in Medicine (7 publications)
  • The American Journal of Human Genetics (6 publications)

Key recent papers include:

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders, 2020, The American Journal of Human Genetics
  • Nosology of genetic skeletal disorders: 2023 revision, 2023, American Journal of Medical Genetics Part A
  • International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia, 2021, Nature Reviews Endocrinology
  • Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia, 2021, International Journal of Molecular Sciences
  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita, 2021, Journal of Medical Genetics

Best Publications

  • Nosology and classification of genetic skeletal disorders : 2010 revision

    Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

  • Nosology and classification of genetic skeletal disorders: 2015 revision

    Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman

  • Nosology and classification of genetic skeletal disorders: 2019 revision.

    Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

  • Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

    Ludovic de Beaucoudrey;Ludovic de Beaucoudrey;Anne Puel;Anne Puel;Orchidée Filipe-Santos;Orchidée Filipe-Santos;Aurélie Cobat;Aurélie Cobat

  • Targeted therapy in patients with PIK3CA-related overgrowth syndrome

    Quitterie Venot;Thomas Blanc;Thomas Blanc;Thomas Blanc;Smail Hadj Rabia;Smail Hadj Rabia;Laureline Berteloot

  • SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

    V Belin;V Cusin;G Viot;D Girlich

  • Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

    Isabelle Valnot;Sandrine Osmond;Nadine Gigarel;Blandine Mehaye

  • Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

    Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker

  • Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

    M-L Jacquemont;D Sanlaville;R Redon;O Raoul

  • Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

    Cynthia F. Bartels;Hülya Bükülmez;Hülya Bükülmez;Pius Padayatti;David K. Rhee

  • Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Antonie D. Kline;Joanna F. Moss;Angelo Selicorni;Anne Marie Bisgaard

  • Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

    Katrina Tatton-Brown;Jenny Douglas;Kim Coleman;Geneviève Baujat

  • Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

    Alexandra Y. Kreins;Alexandra Y. Kreins;Michael J. Ciancanelli;Satoshi Okada;Xiao Fei Kong

  • Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

    Céline Cluzeau;Smail Hadj-Rabia;Marguerite Jambou;Sourour Mansour

  • ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

    Nathalie Dagoneau;Catherine Benoist-Lasselin;Céline Huber;Laurence Faivre

  • Ciliary disorder of the skeleton

    Celine Huber;Valerie Cormier-Daire

  • CHARGE syndrome: Report of 47 cases and review

    A.L. Tellier;V. Cormier-Daire;V. Abadie;J. Amiel

  • In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

    L. Faivre;R. J. Gorlin;M. K. Wirtz;M. Godfrey

  • Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    Deborah Krakow;Deborah Krakow;Stephen P Robertson;Lily M King;Timothy Morgan

Frequent Co-Authors

Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Laurence Faivre
Laurence Faivre University of Burgundy
Jeanne Amiel
Jeanne Amiel Université Paris Cité
Martine Le Merrer
Martine Le Merrer Necker-Enfants Malades Hospital
Michel Vekemans
Michel Vekemans Université Paris Cité
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Delphine Héron
Delphine Héron Sorbonne University
Didier Lacombe
Didier Lacombe University of Bordeaux

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

If you’re passionate about genetics but interested in branching out, there are several rewarding online pathways within healthcare and science. For those aiming for a hands-on role in patient care, accredited nursing programs that don't require teas exams can provide a faster route to becoming a nurse.

If administration or healthcare management appeals to you, consider pursuing a masters in healthcare administration. This degree opens doors to leadership roles within hospitals, research centers, and biotech firms.

Those looking for quicker entry into the workforce may explore lpn programs that offer fast-track, flexible learning options. For advanced practitioners, there are also phd nursing programs online—an ideal choice for those seeking expertise in genetics research, teaching, or policy.

Each option offers a unique avenue to apply genetics knowledge and make an impact in healthcare. Flexible online degrees help you tailor your studies to your career ambitions.

Best Scientists Citing Valérie Cormier-Daire

Trending Scientists