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Bruno Reversade
Affiliation : Agency for Science, Technology and Research · National University of Singapore · Genome Institute of Singapore · King Abdullah University of Science and Technology · Institute of Molecular and Cell Biology
- 12Publications (affiliation in Singapore)
- 279Total publications
- 10238Citations
- 56h-index
Research profile
Bruno Reversade has 12 indexed publications (2012–2026). Their work appears mainly in “Nature Genetics”, “Journal of Investigative Dermatology” and “Annales de Dermatologie et de Vénéréologie”. Their most cited article, “Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation” (2016), has been cited 440 times. 3 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Tunisia, Japan, Saudi Arabia.
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Create my free profile Add my publicationsResearch areas
- Genomics and Rare Diseases
- Developmental Biology and Gene Regulation
- Genetic and Kidney Cyst Diseases
- Congenital heart defects research
- Cystic Fibrosis Research Advances
Publications (12)
- Biallelic loss-of-function PTPN6 variants lead to inflammatory lung disease and hemolytic anemia
- SHP1 (PTPN6) Deficiency Defines a New PIRD with Infant-Onset Anemia and Severe Hyperinflammatory Lung Disease
- Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
- SMCHD1 is involved in de novo methylation of the DUX4 -encoding D4Z4 macrosatellite
- A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family
- De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis
- Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation
- Nouvelle génodermatose : carcinomes multiples autorégressifs palmo-plantaires ou « multiple self-healing palmoplantar carcinoma »
- Nouvelle forme héréditaire d’une kératodermie palmo-plantaire focale à potentiel carcinomateux
- Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions
- Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
Publication venues
- Nature Genetics × 2
- Journal of Investigative Dermatology × 2
- Annales de Dermatologie et de Vénéréologie × 2
- The Journal of Experimental Medicine × 1
- Journal of Human Immunity × 1
- Journal of Human Genetics × 1
Publications per year
- 20262
- 20241
- 20191
- 20181
- 20172
- 20161
- 20152
- 20141
- 20121
Collaborations
Partner institutions : Institute of Medical Biology · Hôpital Farhat Hached · Kyoto University
Co-authors’ countries : Tunisia · Japan · Saudi Arabia
Co-authors
- Carine Bonnard
- Ons Mamaï
- Kim S. Robinson
- Nathalie Escande‐Beillard
- Shifeng Xue
- Franklin L. Zhong
- Marwa Chourabi
- Audrey S.M. Teo
- Jianjun Liu
- Mohammad Shboul
- Lukáš Lacina
- John Common
Bibliographic data from OpenAlex (open database).
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