Research output per year
Research output per year
Personal profile
Education
Molecular & Cellular Biology of Development, Ph.D., Sorbonne Université
2006
M.S., Institut Pasteur de Madagascar
2000
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Dive into the research topics where Bruno Reversade is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings
Li, M., Lay, K., Zimmer, A., Technau-Hafsi, K., Wong, J., Reimer-Taschenbrecker, A., Rohr, J., Abdalla, E., Fischer, J., Reversade, B. & Has, C., Feb 2023, In: British Journal of Dermatology. 188, 2, p. 259-267 9 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder.
Westrip, C. A. E., Paul, F., Al-Murshedi, F., Qaitoon, H., Cham, B., Fletcher, S. C., Hendrix, E., Boora, U., Jin Ng, A. Y., Bonnard, C., Najafi, M., Alawbathani, S., Lambert, I., Fox, G., Venkatesh, B., Bertoli-Avella, A., Tan, E. S., Al-Maawali, A., Reversade, B. & Coleman, M. L., May 11 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. p. 100893Research output: Contribution to journal › Article › peer-review
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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière, C., Delourme, M., Chevalier, R., Dion, C., Ganne, B., Hirst, D., Caron, L., Perrin, P., Adélaïde, J., Chaffanet, M., Xue, S., Nguyen, K., Reversade, B., Déjardin, J., Baudot, A., Robin, J. D. & Magdinier, F., Jun 19 2023, In: NUCLEIC ACIDS RESEARCH.Research output: Contribution to journal › Article › peer-review
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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
Wong, S., Tan, Y. X., Loh, A. Y. T., Tan, K. Y., Lee, H., Aziz, Z., Nelson, S. F., Özkan, E., Kayserili, H., Escande-Beillard, N. & Reversade, B., Apr 17 2023, In: EMBO Molecular Medicine.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features (Nature Genetics, (2009), 41, 9, (1016-1021), 10.1038/ng.413)
Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., Shboul, M., Tham, P. Y., Kayserili, H., Al-Gazali, L., Shahwan, M., Brancati, F., Lee, H., O’Connor, B. D., Kegler, M. S. V., Merriman, B., Nelson, S. F., Masri, A., Alkazaleh, F., Guerra, D., & 27 others, Feb 1 2022, In: Nature Genetics. 54, 2Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities
Alawbathani, S., Westenberger, A., Ordonez-Herrera, N., Al-Hilali, M., Al Hebby, H., Alabbas, F., Alhashem, A. M., Elyamany, G., Megarbane, A., Kose, M., Alhashmi, N., Al Sukaiti, N., Al-Raqad, M., Al-Tawalbeh, S., Abu Adas Blanco, O., Alkhattabi, F., Sng, D., Al-Ali, R., Khan, S., Tawamie, H., & 7 others, Feb 1 2022, In: Clinical Genetics. 101, 2, p. 247-254 8 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
C10orf99/GPR15L Regulates Proinflammatory Response of Keratinocytes and Barrier Formation of the Skin
Dainichi, T., Nakano, Y., Doi, H., Nakamizo, S., Nakajima, S., Matsumoto, R., Farkas, T., Wong, P. M., Narang, V., Moreno Traspas, R., Kawakami, E., Guttman-Yassky, E., Dreesen, O., Litman, T., Reversade, B. & Kabashima, K., Feb 22 2022, In: Frontiers in Immunology. 13Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Corrigendum to: Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome? (American Journal of Medical Genetics Part A, (2020), 182, 9, (2010-2020), 10.1002/ajmg.a.61758)
Koh, A. L., Bonnard, C., Binte Ali, N. A., Reversade, B. & Jamuar, S., Jan 1 2022, In: American Journal of Medical Genetics, Part A. 188, 1Research output: Contribution to journal › Article › peer-review
Press/Media
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New Nucleoproteins Study Findings Has Been Reported by a Researcher at Aix-Marseille University (In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy ...)
06/29/23
1 item of Media coverage
Press/Media: Press / Media
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Investigators at University of Freiburg Report Findings in Cytokines (A Homozygous P.leu813pro Gain-of-function Nlrp1 Variant Causes Phenotypes of Different Severity In Two Siblings)
05/25/23
1 item of Media coverage
Press/Media: Press / Media
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Research finds mutations in novel gene responsible for severe liver disease in children
08/14/22
1 item of Media coverage
Press/Media: Press / Media
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Research finds mutations in novel gene responsible for severe liver disease in children
08/13/22
3 items of Media coverage
Press/Media: Press / Media
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Nature, smells, and human wellbeing - Ambio
08/3/22
1 item of Media coverage
Press/Media: Press / Media
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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis - Nature Genetics
08/2/22
1 item of Media coverage
Press/Media: Press / Media
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Mutations in novel gene found to be responsible for severe liver disease in children
08/2/22
2 items of Media coverage
Press/Media: Press / Media