The snRNA-processing complex, Integrator, is required for ciliogenesis and dynein recruitment to the nuclear envelope via distinct mechanisms

by Jodoin, J.N, Shboul, M, Albrecht, T.R, Lee, E, Wagner, E.J, Reversade, B, Lee, L.A
Published 2020

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

by Ziaei, A., Xu, X., Dehghani, L., Bonnard, C., Zellner, A., Ng, A.Y.J., Tohari, S., Venkatesh, B., Haffner, C., Reversade, B., Shaygannejad, V., Pouladi, M.A.
Published 2021

The Apelin receptor enhances Nodal/TGF? signaling to ensure proper cardiac development

by Deshwar, A.R, Chng, S.C, Ho, L, Reversade, B, Scott, I.C
Published 2020

Sirenomelia in Bmp7 and Tsg compound mutant mice: Requirement for Bmp signaling in the development of ventral posterior mesoderm

by Zakin, L, Reversade, B, Kuroda, H, Lyons, K.M, De Robertis, E.M
Published 2020

Quantitative imaging reveals real-time Pou5f3-nanog complexes driving dorsoventral mesendoderm patterning in zebrafish

by Perez-Camps M., Tian J., Chng S.C., Sem K.P., Sudhaharan T., Teh C., Wachsmuth M., Korzh V., Ahmed S., Reversade B.
Published 2020

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

by Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W
Published 2020

Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics

by Jin, M, Pomp, O, Shinoda, T, Toba, S, Torisawa, T, Furuta, K, Oiwa, K, Yasunaga, T, Kitagawa, D, Matsumura, S, Miyata, T, Tan, T.T, Reversade, B, Hirotsune, S
Published 2020

Depletion of Bmp2, Bmp4, Bmp7 and Spemann organizer signals induces massive brain formation in Xenopus embryos

by Reversade, B, Kuroda, H, Lee, H, Mays, A, De Robertis, E.M
Published 2020

The hormonal peptide Elabela guides angiob lasts to the midline during vasculogenesis

by Helker, C.S.M, Schuermann, A, Pollmann, C, Chng, S.C, Kiefer, F, Reversade, B, Herzog, W
Published 2020

Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica

by Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, H.R.K, Mojahedi, F, Setoodeh, A, Loh, A, Tan, Y.X, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T, Morava, E
Published 2020

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

by Dion, C., Roche, S., Laberthonnière, C., Broucqsault, N., Mariot, V., Xue, S., Gurzau, A.D., Nowak, A., Gordon, C.T., Gaillard, M.-C., El-Yazidi, C., Thomas, M., Schlupp-Robaglia, A., Missirian, C., Malan, V., Ratbi, L., Sefiani, A., Wollnik, B., Binetruy, B., Campana, E.S., Attarian, S., Bernard, R., Nguyen, K., Amiel, J., Dumonceaux, J., Murphy, J.M., Déjardin, J., Blewitt, M.E., Reversade, B., Robin, J.D., Magdinier, F.
Published 2021

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

by Oud, M.M, Bonnard, C, Mans, D.A, Altunoglu, U, Tohari, S, Ng, A.Y.J, Eskin, A, Lee, H, Rupar, C.A, Wagenaar, N.P, Wu, K.M, Lahiry, P, Pazour, G.J, Nelson, S.F, Hegele, R.A, Roepman, R, Kayserili, H, Venkatesh, B, Siu, V.M, Reversade, B, Arts, H.H
Published 2020

Structural basis of RIP2 activation and signaling

by Gong, Q, Long, Z, Zhong, F.L, Teo, D.E.T, Jin, Y, Yin, Z, Boo, Z.Z, Zhang, Y, Zhang, J, Yang, R, Bhushan, S, Reversade, B, Li, Z, Wu, B
Published 2020

A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

by 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, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B
Published 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.-T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L., Reversade, B.
Published 2021

Identical twins carry a persistent epigenetic signature of early genome programming

by Dongen, J. van, Gordon, S.D., McRae, A.F., Odintsova, V.V., Mbarek, H., Breeze, C.E., Sugden, K., Lundgren, S., Castillo-Fernandez, J.E., Hannon, E., Moffitt, T.E., Hagenbeek, F.A., Beijsterveldt, C.E.M. van, Hottenga, J.J., Tsai, P.C., Min, J.L., Hemani, G., Ehli, E.A., Paul, F., Stern, C.D., Heijmans, B.T., Slagboom, P.E., Daxinger, L., Maarel, S.M. van der, Geus, E.J.C. de, Willemsen, G., Montgomery, G.W., Reversade, B., Ollikainen, M., Kaprio, J., Spector, T.D., Bell, J.T., Mill, J., Caspi, A., Martin, N.G., Boomsma, D.I., Bios Consortium, Genetics DNA Methylation Consortiu
Published 2021