Bruno Reversade
Affiliations: | Institute of Medical Biology, A*STAR |
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Publications
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| Szenker-Ravi E, Ott T, Khatoo M, et al. (2022) Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature Genetics |
| Szenker-Ravi E, Ott T, Khatoo M, et al. (2021) Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature Genetics |
| Elouej S, Harhouri K, Le Mao M, et al. (2020) Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature Communications. 11: 4589 |
| Al Sayed ZR, Canac R, Cimarosti B, et al. (2020) Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction. Cardiovascular Research |
| Bonnard C, Navaratnam N, Ghosh K, et al. (2020) A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling. The Journal of Experimental Medicine. 217 |
| Koh AL, Bonnard C, Lim JY, et al. (2020) Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome? American Journal of Medical Genetics. Part A |
| Escande-Beillard N, Loh A, Saleem SN, et al. (2020) Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2. Neuron |
| Vidal VP, Jian Motamedi F, Rekima S, et al. (2020) R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors. Elife. 9 |
| Hengel H, Bosso-Lefèvre C, Grady G, et al. (2020) Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nature Communications. 11: 595 |
| Drutman SB, Haerynck F, Zhong FL, et al. (2019) Homozygous gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. Proceedings of the National Academy of Sciences of the United States of America |