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Marine Madrange

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
2016 · Marie Tauber, Elodie Bal, et al. · Journal of Investigative Dermatology · 106
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
2017 · Florence Habarou, Yamina Hamel, et al. · The American Journal of Human Genetics · 93
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Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds
2019 · E. Sbidian, M. Madrange, et al. · British Journal of Dermatology · 75
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
2017 · Elodie Bal, Hyun-Sook Park, et al. · Nature Medicine · 75
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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
2020 · Claire‐Marine Bérat, Sebastian Montealegre, et al. · Journal of Inherited Metabolic Disease · 54
Epithelial barrier dysfunction in desmoglein-1 deficiency
2018 · Laura Polivka, Smail Hadj-Rabia, et al. · Journal of Allergy and Clinical Immunology · 50
Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa
2020 · Florence Assan, Jeremy Gottlieb, et al. · Journal of Allergy and Clinical Immunology · 45
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Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes
2023 · Laura Polivka, Marine Madrange, et al. · Journal of Allergy and Clinical Immunology · 41
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PAPASH , Ps APASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens
2019 · J. Gottlieb, M. Madrange, et al. · British Journal of Dermatology · 39
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
2021 · Macarena Cabrera-Serrano, Laure Caccavelli, et al. · Brain · 30
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Mutation in IL 36 RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome
2017 · Elodie Bal, Ai Ching Lim, et al. · Experimental Dermatology · 25
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Cardiac function and exercise adaptation in 8 children with LPIN1 mutations
2018 · Antoine Legendre, Diala Khraiche, et al. · Molecular Genetics and Metabolism · 24
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis
2021 · Yamina Hamel, François-Xavier Mauvais, et al. · Cell Reports Medicine · 20
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Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations
2017 · Michele Pelosi, Eric Testet, et al. · Journal of Lipid Research · 20
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The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis
2021 · L. Polivka, V. Parietti, et al. · Blood · 13
A high prevalence of hereditary alpha‐tryptasemia in pediatric mastocytoma
2024 · M. Madrange, J. Rossignol, et al. · Allergy · 9
SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases
2025 · Pauline Bronnec, Sarah Dalmon, et al. · The Journal of Experimental Medicine · 8
Histological characterization of liver involvement in systemic mastocytosis
2024 · Julien Rossignol, Danielle Canioni, et al. · Liver International · 7
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Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specified
2025 · Thomas Ballul, Vito Sabato, et al. · EClinicalMedicine · 6
Redefining tryptase norms in the pediatric population reveals sex‐based differences: Clinical implications
2024 · Mathilde Puel, Julien Rossignol, et al. · Allergy · 6
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199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
2017 · C. Le Gall, L. Puca, et al. · Journal of Investigative Dermatology · 3
Characteristics and outcomes of patients with pediatric‐onset non‐mastocytosis mast cell activation disorders: A CEREMAST study
2026 · M. Weiss, J. Rossignol, et al. · Pediatric Allergy and Immunology · 1
Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
2025 · Elodie Bal, Hyun-Sook Park, et al. · Nature Medicine · 1
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PRIMA-1MET/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells
2023 · Clément Berthy, Laurent Gagnoux-Palacios, et al. · Journal of Investigative Dermatology · 1
Germline EZH2 mutation cooperates with somatic KIT D816V to drive early pediatric advanced systemic mastocytosis
2026 · Clotilde Devin, Lucas Khellaf, et al. · Haematologica
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Works count: 37
Citation count: 752
H-index: 14
I10-index: 15
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