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Emmanuelle Bourrat

Affiliation : Assistance Publique – Hôpitaux de Paris · Hôpital Saint-Louis

• 6Publications (affiliation in France)
• 410Total publications
• 4951Citations
• 35h-index

ORCIDOpenAlex

Research profile

Emmanuelle Bourrat has 6 indexed publications (2016–2024). Their work appears mainly in “Genes”, “Human Mutation” and “Journal of Investigative Dermatology”. Their most cited article, “IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases” (2016), has been cited 104 times. 2 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Germany, Italy.

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Research areas

• Genetic and rare skin diseases.
• Skin and Cellular Biology Research
• Dermatology and Skin Diseases
• Psoriasis: Treatment and Pathogenesis
• Genomics and Rare Diseases

Publications (6)

• Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations
  2024 · Genes · cited 8 times
• Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
  2023 · Genes · cited 25 times
• Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
  2021 · Genes · cited 35 times
• Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
  2019 · Human Mutation · cited 19 times
• IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
  2016 · Journal of Investigative Dermatology · cited 104 times
• Nævomatose basocellulaire diffuse du tronc chez une enfant de 10 ans traitée par Vismodégib
  2016 · Annales de Dermatologie et de Vénéréologie

Publication venues

• Genes × 3
• Human Mutation × 1
• Journal of Investigative Dermatology × 1
• Annales de Dermatologie et de Vénéréologie × 1

Publications per year

• 20241
• 20231
• 20211
• 20191
• 20162

Collaborations

Partner institutions : ERN Skin · University of Freiburg · University Medical Center Freiburg · Hôpital Necker-Enfants Malades · Inserm

Co-authors’ countries : Germany · Italy

Co-authors

• Vinzenz Oji
• Judith Fischer
• Svenja Alter
• Alrun Hotz
• Katalin Komlósi
• Stéphanie Leclerc‐Mercier
• Hervé Bachelez
• Lotta Wankner
• Davide Brognoli
• Marine Madrange
• Kathrin A. Giehl
• J. Mazereeuw‐Hautier

Bibliographic data from OpenAlex (open database).