Reversade, Bruno

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

Zhong, F. L., Mamaï, O., Sborgi, L., Boussofara, L., Hopkins, R., Robinson, K., Szeverényi, I., Takeichi, T., Balaji, R., Lau, A., et al. (2016) · Cell

Inflammasome and immune disordersGenetic and rare skin diseases.

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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G., Ten Kate, L. P., Bennett, R. L., Shaw, A., Megarbane, A., van Duijn, C., et al. (2011) · Genetics in Medicine

Marriage and Family DynamicsGenomics and Rare Diseases

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RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Szenker-Ravi, E., Altunoglu, U., Leushacke, M., Bosso-Lefèvre, C., Khatoo, M., Thi Tran, H., Naert, T., Noelanders, R., Hajamohideen, A., Beneteau, C., et al. (2018) · Nature

Wnt/β-catenin signaling in development and cancerCongenital limb and hand anomalies

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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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Long-Term Culture of Self-renewing Pancreatic Progenitors Derived from Human Pluripotent Stem Cells

Trott, J., Tan, E. K., Ong, S., Titmarsh, D. M., Denil, S. L. I. J., Giam, M., Wong, C. K., Wang, J., Shboul, M., Eio, M., et al. (2017) · Stem Cell Reports

Pancreatic function and diabetesPluripotent Stem Cells Research

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A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

Chia, P. H., Zhong, F. L., Niwa, S., Bonnard, C., Utami, K. H., Zeng, R., Lee, H., Eskin, A., Nelson, S. F., Xie, W. H., et al. (2018) · eLife

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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