Camille Louvrier

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.1kcitations89works2.32yr avg
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Research Topics

Inflammasome and immune disorders(23), Neonatal Respiratory Health Research(22), Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis(13), Congenital Diaphragmatic Hernia Studies(10), Urticaria and Related Conditions(7)

Publications88 total

Reply to “Familial Segregation Highlights Challenges in Rare <scp>SFTPA2</scp> Variant Classification”
Respirology·2026Open Access
Compréhension des diagnostics tardifs du syndrome périodique associé à la cryopyrine (CAPS)
La Revue de Médecine Interne·2025
L’haplotype HAQ de STING n’explique pas à lui seul la pénétrance incomplète du syndrome COPA
La Revue de Médecine Interne·2025
Molecular Investigation in Early‐Onset Interstitial Lung Disease: Results From 699 Unrelated Patients
Respirology·2025· 1 citedOpen Access
Phenotype‐Genotype Correlations in ABCA3 Patients—The RespiRare Cohort
Pediatric Pulmonology·2025Open Access
Repurposing CFTR modulators in ABCA3-associated interstitial lung disease: a therapeutic option? A CRC chILDEU study
2025
Clinical and imaging presentation in children with surfactant protein C gene mutation, a CRC chILD study
2025
SFTPA1 and SFTPA2 defects associated with interstitial lung disease are not always missense variations, a chILDEU study
2025
Deciphering the pathogenicity of NKX2-1 variants in ultra-severe forms of childhood interstitial lung diseases. A CRC chILDEU study.
2025
Molecular investigation of surfactant related genes in interstitial lung disease: results from 699 unrelated children and young adults. A CRC chILDEU study
2025
<i>D</i> <i>e novo SRRM2</i> variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy
European Respiratory Journal·2025· 2 cited
Persistent tachypnoea of infancy and neuroendocrine cell hyperplasia of infancy: from systematic review to future directions
ERJ Open Research·2025· 1 citedOpen Access
Unmasking Tumor Necrosis Factor Receptor–Associated Periodic Syndrome (TRAPS): Diagnostic pitfalls of de novo mutations
The Journal of Allergy and Clinical Immunology In Practice·2025
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity
Journal of Clinical Immunology·2025· 1 citedOpen Access
Surfactant Protein (SP)-A Benefits Over SP-A Mutant: A Preliminary Study for Interstitial Lung Disease Treatment
American Journal of Respiratory Cell and Molecular Biology·2025· 3 cited
Dominant Form of <i>SFTPB</i> : A New Paradigm
American Journal of Respiratory and Critical Care Medicine·2025Open Access
Low-level <i>NLRP3</i> mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of <i>NLRP3</i>-related disorders and therapeutic implications
British Journal of Dermatology·2025· 2 cited
POS1120 DIAGNOSIS OF CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME (CAPS) IN ADULTHOOD: LESSONS FROM A FRENCH COHORT
Annals of the Rheumatic Diseases·2025Open Access
An update on diagnosis and treatments of childhood interstitial lung diseases
Breathe·2025· 4 citedOpen Access
Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis
Respirology·2025· 2 citedOpen Access
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Frequent Co-authors

Irina Giurgea(18), Serge Amselem(18), Marie Legendre(18), Nadia Nathan(18), Eman Assrawi(12), Raphaël Borie(11), William Piterboth(10), Gilles Grateau(10), Sonia Karabina(10), Sophie Georgin‐Lavialle(9), Fawaz Awad(8), L. Gilain(8), Ralph Epaud(8), Aurore Coulomb L’Herminé(8), Bruno Copin(7), Alix de Becdelièvre(7), Yohan Sorèze(7), Claire Jumeau(6), T. Mom(6), Elma El Khouri(6)