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ZFIN ID: ZDB-PERS-970929-5
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BIOGRAPHY AND RESEARCH INTERESTS
Bruno was trained as a developmental biologist in the HHMI lab of Prof. De Robertis at UCLA. After his PhD in 2008, he was awarded the inaugural A*STAR investigatorship and set up his team at the Institute of Medical Biology in Singapore. There, he switched to human genetics, placing emphasis on monogenic, fully penetrant and unique genetic traits as a means to understand complex and common diseases.
Combining the power of deep sequencing, patient-derived iPSCs and animal modeling in zebrafish, Xenopus and mice, his team has resolved numerous human disorders affecting embryogenesis, metabolism, ageing, cognition and familial cancers.
Bruno is a Professor and Research Director at A*STAR in Singapore, an adjunct Professor of Paediatrics at NUS, a fellow of the Branco Weiss Foundation in Switzerland, the first EMBO Young Investigator based outside Europe and a distinguished Professor of Genetics at AMC/VUmc in Amsterdam, Netherlands and Koç University in Istanbul, Turkey.
PUBLICATIONS
Mbarek, H., Gordon, S.D., Duffy, D.L., Hubers, N., Mortlock, S., Beck, J.J., Hottenga, J.J., Pool, R., Dolan, C.V., Actkins, K.V., Gerring, Z.F., Van Dongen, J., Ehli, E.A., Iacono, W.G., Mcgue, M., Chasman, D.I., Gallagher, C.S., Schilit, S.L.P., Morton, C.C., Paré, G., Willemsen, G., Whiteman, D.C., Olsen, C.M., Derom, C., Vlietinck, R., Gudbjartsson, D., Cannon-Albright, L., Krapohl, E., Plomin, R., Magnusson, P.K.E., Pedersen, N.L., Hysi, P., Mangino, M., Spector, T.D., Palviainen, T., Milaneschi, Y., Penninnx, B.W., Campos, A.I., Ong, K.K., Perry, J.R.B., Lambalk, C.B., Kaprio, J., Ólafsson, Í., Duroure, K., Revenu, C., Rentería, M.E., Yengo, L., Davis, L., Derks, E.M., Medland, S.E., Stefansson, H., Stefansson, K., Del Bene, F., Reversade, B., Montgomery, G.W., Boomsma, D.I., Martin, N.G. (2023) Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human reproduction (Oxford, England). 39(1):240-257
Derrick, C.J., Szenker-Ravi, E., Santos-Ledo, A., Alqahtani, A., Yusof, A., Eley, L., Coleman, A.H.L., Tohari, S., Ng, A.Y., Venkatesh, B., Alharby, E., Mansard, L., Bonnet-Dupeyron, M.N., Roux, A.F., Vaché, C., Roume, J., Bouvagnet, P., Almontashiri, N.A.M., Henderson, D.J., Reversade, B., Chaudhry, B. (2023) Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish. Human molecular genetics. 33(2):150-169
Hasel de Carvalho, E., Dharmadhikari, S.S., Shkarina, K., Xiong, J.R., Reversade, B., Broz, P., Leptin, M. (2023) The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death. eLIFE. 12:
Harapas, C.R., Robinson, K.S., Lay, K., Wong, J., Moreno Traspas, R., Nabavizadeh, N., Rass-Rothschild, A., Boisson, B., Drutman, S.B., Laohamonthonkul, P., Bonner, D., Xiong, J.R., Gorrell, M.D., Davidson, S., Yu, C.H., Fleming, M.D., Gudera, J., Stein, J., Ben-Harosh, M., Groopman, E., Shimamura, A., Tamary, H., Kayserili, H., Hatipoğlu, N., Casanova, J.L., Bernstein, J.A., Zhong, F.L., Masters, S.L., Reversade, B. (2022) DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. Science immunology. 7:eabi4611
Moreno Traspas, R., Teoh, T.S., Wong, P.M., Maier, M., Chia, C.Y., Lay, K., Ali, N.A., Larson, A., Al Mutairi, F., Al-Sannaa, N.A., Faqeih, E.A., Alfadhel, M., Cheema, H.A., Dupont, J., Bézieau, S., Isidor, B., Low, D.Y., Wang, Y., Tan, G., Lai, P.S., Piloquet, H., Joubert, M., Kayserili, H., Kripps, K.A., Nahas, S.A., Wartchow, E.P., Warren, M., Bhavani, G.S., Dasouki, M., Sandoval, R., Carvalho, E., Ramos, L., Porta, G., Wu, B., Lashkari, H.P., AlSaleem, B., BaAbbad, R.M., Abreu Ferrão, A.N., Karageorgou, V., Ordonez-Herrera, N., Khan, S., Bauer, P., Cogne, B., Bertoli-Avella, A.M., Vincent, M., Girisha, K.M., Reversade, B. (2022) Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature Genetics. 54(8):1214-1226
Xue, S., Ly, T.T.N., Vijayakar, R.S., Chen, J., Ng, J., Mathuru, A.S., Magdinier, F., Reversade, B. (2022) HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring. Nature communications. 13:3583
Szenker-Ravi, E., Ott, T., Khatoo, M., de Bellaing, A.M., Goh, W.X., Chong, Y.L., Beckers, A., Kannesan, D., Louvel, G., Anujan, P., Ravi, V., Bonnard, C., Moutton, S., Schoen, P., Fradin, M., Colin, E., Megarbane, A., Daou, L., Chehab, G., Di Filippo, S., Rooryck, C., Deleuze, J.F., Boland, A., Arribard, N., Eker, R., Tohari, S., Ng, A.Y., Rio, M., Lim, C.T., Eisenhaber, B., Eisenhaber, F., Venkatesh, B., Amiel, J., Crollius, H.R., Gordon, C.T., Gossler, A., Roy, S., Attie-Bitach, T., Blum, M., Bouvagnet, P., Reversade, B. (2021) Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature Genetics. 54(1):62-72
Wong, H.H., Seet, S.H., Maier, M., Gurel, A., Traspas, R.M., Lee, C., Zhang, S., Talim, B., Loh, A.Y.T., Chia, C.Y., Teoh, T.S., Sng, D., Rensvold, J., Unal, S., Shishkova, E., Cepni, E., Nathan, F.M., Sirota, F.L., Liang, C., Yarali, N., Simsek-Kiper, P.O., Mitani, T., Ceylaner, S., Arman-Bilir, O., Mbarek, H., Gumruk, F., Efthymiou, S., Uğurlu Çi Men, D., Georgiadou, D., Sotiropoulou, K., Houlden, H., Paul, F., Pehlivan, D., Lainé, C., Chai, G., Ali, N.A., Choo, S.C., Keng, S.S., Boisson, B., Yılmaz, E., Xue, S., Coon, J.J., Ly, T.T.N., Gilani, N., Hasbini, D., Kayserili, H., Zaki, M., Isfort, R.J., Ordonez, N., Tripolszki, K., Bauer, P., Rezaei, N., Seyedpour, S., Khotaei, G.T., Bascom, C.C., Maroofian, R., Chaabouni, M., Alsubhi, A., Eyaid, W., Işıkay, S., Gleeson, J.G., Lupski, J.R., Casanova, J.L., Pagliarini, D.J., Akarsu, N.A., Maurer-Stroh, S., Cetinkaya, A., Bertoli-Avella, A., Mathuru, A.S., Ho, L., Bard, F.A., Reversade, B. (2021) Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy. American journal of human genetics. 108(7):1301-1317
Zhang, S., Reljić, B., Liang, C., Kerouanton, B., Francisco, J.C., Peh, J.H., Mary, C., Jagannathan, N.S., Olexiouk, V., Tang, C., Fidelito, G., Nama, S., Cheng, R.K., Wee, C.L., Wang, L.C., Duek Roggli, P., Sampath, P., Lane, L., Petretto, E., Sobota, R.M., Jesuthasan, S., Tucker-Kellogg, L., Reversade, B., Menschaert, G., Sun, L., Stroud, D.A., Ho, L. (2020) Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly. Nature communications. 11:1312
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. (2020) Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nature communications. 11:595
Gueneau, L., Fish, R.J., Shamseldin, H.E., Voisin, N., Tran Mau-Them, F., Preiksaitiene, E., Monroe, G.R., Lai, A., Putoux, A., Allias, F., Ambusaidi, Q., Ambrozaityte, L., Cimbalistienė, L., Delafontaine, J., Guex, N., Hashem, M., Kurdi, W., Jamuar, S.S., Ying, L.J., Bonnard, C., Pippucci, T., Pradervand, S., Roechert, B., van Hasselt, P.M., Wiederkehr, M., Wright, C.F., DDD Study, Xenarios, I., van Haaften, G., Shaw-Smith, C., Schindewolf, E.M., Neerman-Arbez, M., Sanlaville, D., Lesca, G., Guibaud, L., Reversade, B., Chelly, J., Kučinskas, V., Alkuraya, F.S., Reymond, A. (2017) KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. American journal of human genetics. 102(1):116-132
Sato, T., Sato, C., Kadowaki, A., Watanabe, H., Ho, L., Ishida, J., Yamaguchi, T., Kimura, A., Fukamizu, A., Penninger, J.M., Reversade, B., Ito, H., Imai, Y., Kuba, K. (2017) ELABELA - APJ axis protects from pressure overload heart failure and Angiotensin II-induced cardiac damage. Cardiovascular research. 113(7):760-769
Perez-Camps, M., Tian, J., Chng, S.C., Sem, K.P., Sudhaharan, T., Teh, C., Wachsmuth, M., Korzh, V., Ahmed, S., Reversade, B. (2016) Quantitative imaging reveals real-time Pou5f3-Nanog complexes driving dorsoventral mesendoderm patterning in zebrafish. eLIFE. 5
Cetinkaya, A., Xiong, J.R., Vargel, İ., Kösemehmetoğlu, K., Canter, H.İ., Gerdan, Ö.F., Longo, N., Alzahrani, A., Camps, M.P., Taskiran, E.Z., Laupheimer, S., Botto, L.D., Paramalingam, E., Gormez, Z., Uz, E., Yuksel, B., Ruacan, Ş., Sağıroğlu, M.Ş., Takahashi, T., Reversade, B., Akarsu, N.A. (2016) Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. American journal of human genetics. 99(2):299-317
Zhou, F., Narasimhan, V., Shboul, M., Chong, Y.L., Reversade, B., Roy, S. (2015) Gmnc Is a Master Regulator of the Multiciliated Cell Differentiation Program. Current biology : CB. 25(24):3267-73
Helker, C.S., Schuermann, A., Pollmann, C., Chng, S.C., Kiefer, F., Reversade, B., Herzog, W. (2015) The hormonal peptide Elabela guides angioblasts to the midline during vasculogenesis. eLIFE. 4
Hu, W.F., Pomp, O., Ben-Omran, T., Kodani, A., Henke, K., Mochida, G.H., Yu, T.W., Woodworth, M.B., Bonnard, C., Raj, G.S., Tan, T.T., Hamamy, H., Masri, A., Shboul, M., Al Saffar, M., Partlow, J.N., Al-Dosari, M., Alazami, A., Alowain, M., Alkuraya, F.S., Reiter, J.F., Harris, M.P., Reversade, B., Walsh, C.A. (2014) Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number. Neuron. 84:1240-1257
Tian, J., Ling, L., Shboul, M., Lee, H., O'Connor, B., Merriman, B., Nelson, S.F., Cool, S., Ababneh, O.H., Al-Hadidy, A., Masri, A., Hamamy, H., and Reversade, B. (2010) Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling. American journal of human genetics. 87(6):768-778
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., Merriman, B., Nelson, S.F., Masri, A., Alkazaleh, F., Guerra, D., Ferrari, P., Nanda, A., Rajab, A., Markie, D., Gray, M., Nelson, J., Grix, A., Sommer, A., Savarirayan, R., Janecke, A.R., Steichen, E., Sillence, D., Hauber, I., Budde, B., Nürnberg, G., Nürnberg, P., Seemann, P., Kunkel, D., Zambruno, G., Dallapiccola, B., Schuelke, M., Robertson, S., Hamamy, H., Wollnik, B., Van Maldergem, L., Mundlos, S., and Kornak, U. (2009) Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics. 41(9):1016-1021
NON-ZEBRAFISH PUBLICATIONS
ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice.
Ho L, van Dijk M, Chye STJ, Messerschmidt DM, Chng SC, Ong S, Yi LK, Boussata S, Goh GH, Afink GB, Lim CY, Dunn NR, Solter D, Knowles BB, Reversade B.
Science. 2017 Aug 18;357(6352):707-713. doi: 10.1126/science.aam6607. Epub 2017 Jun 29.
Alternative Progenitor Cells Compensate to Rebuild the Coronary Vasculature in Elabela- and Apj-Deficient Hearts.
Sharma B, Ho L, Ford GH, Chen HI, Goldstone AB, Woo YJ, Quertermous T, Reversade B, Red-Horse K.
Dev Cell. 2017 Aug 31. pii: S1534-5807(17)30636-6. doi: 10.1016/j.devcel.2017.08.008. [Epub ahead of print]
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P.
Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J. Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverényi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker PJ, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B.
Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001.
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.
Mbarek H, Steinberg S, Nyholt DR, Gordon SD, Miller MB, McRae AF, Hottenga JJ, Day FR, Willemsen G, de Geus EJ, Davies GE, Martin HC, Penninx BW, Jansen R, McAloney K, Vink JM, Kaprio J, Plomin R, Spector TD, Magnusson PK, Reversade B, Harris RA, Aagaard K, Kristjansson RP, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Iacono WG, Lambalk CB, Montgomery GW, McGue M, Ong KK, Perry JRB, Martin NG, Stefánsson H, Stefánsson K, Boomsma DI.
Am J Hum Genet. 2016 May 5;98(5):898-908. doi: 10.1016/j.ajhg.2016.03.008. Epub 2016 Apr 28.
