ZFIN ID: ZDB-LAB-110330-1
Human Embryology
PI/Director: REVERSADE, Bruno
Contact Person: REVERSADE, Bruno
Email: bruno@reversade.com
URL: http://www.reversade.com
Address: Institute of Medical Biology, A*STAR 8A Biomedical Grove 05-39 Immunos 138648 Singapore
Country: Singapore
Phone: (+65) 6407 0169
Fax: (+65) 6464 2006
Line Designation: imb


GENOMIC FEATURES ORIGINATING FROM THIS LAB
Show all 9 genomic features


STATEMENT OF RESEARCH INTERESTS
Human congenital birth defects and inherited twinning.


LAB MEMBERS
Escande, Nathelie Post-Doc Szeto, Samuel Post-Doc Bonnard, Carine Graduate Student
Chng, Serene Graduate Student Shboul, Mohammad Graduate Student


ZEBRAFISH PUBLICATIONS OF LAB MEMBERS
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
Tian, J., Shao, J., Liu, C., Hou, H.Y., Chou, C.W., Shboul, M., Li, G.Q., El-Khateeb, M., Samarah, O.Q., Kou, Y., Chen, Y.H., Chen, M.J., Lyu, Z., Chen, W.L., Chen, Y.F., Sun, Y.H., Liu, Y.W. (2018) Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development. Cellular and molecular life sciences : CMLS. 76(1):163-178
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
Li, G., Zhang, Z., Quan, Q., Jiang, R.W., Szeto, S.S., Yuan, S., Wong, W.T., Lam, H.H., Lee, S.M., Chu, I.K. (2016) Discovery, Synthesis, and Functional Characterization of a Novel Neuroprotective Natural Product from the Fruit of Alpinia oxyphylla for use in Parkinson's Disease Through LC/MS-Based Multivariate Data Analysis-Guided Fractionation. Journal of Proteome Research. 15(8):2595-606
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
Deshwar, A.R., Chng, S.C., Ho, L., Reversade, B., Scott, I.C. (2016) The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development. eLIFE. 5
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
Zhang, Z., Li, G., Szeto, S.S., Chong, C., Quan, Q., Huang, C., Cui, W., Guo, B., Wang, Y., Han, Y., Michael Siu, K.W., Lee, S.M., Chu, I.K. (2015) Examining the neuroprotective effects of protocatechuic acid and chrysin on in vitro and in vivo models of Parkinson's disease. Free radical biology & medicine. 84:331-43
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
Chng, S.C., Ho, L., Tian, J., and Reversade, B. (2013) ELABELA: A Hormone Essential for Heart Development Signals via the Apelin Receptor. Developmental Cell. 27(6):672-680
Huang, L., Szymanska, K., Jensen, V.L., Janecke, A.R., Innes, A.M., Davis, E.E., Frosk, P., Li, C., Willer, J.R., Chodirker, B.N., Greenberg, C.R., McLeod, D.R., Bernier, F.P., Chudley, A.E., Müller, T., Shboul, M., Logan, C.V., Loucks, C.M., Beaulieu, C.L., Bowie, R.V., Bell, S.M., Adkins, J., Zuniga, F.I., Ross, K.D., Wang, J., Ban, M.R., Becker, C., Nürnberg, P., Douglas, S., Craft, C.M., Akimenko, M.A., Hegele, R.A., Ober, C., Utermann, G., Bolz, H.J., Bulman, D.E., Katsanis, N., Blacque, O.E., Doherty, D., Parboosingh, J.S., Leroux, M.R., Johnson, C.A., and Boycott, K.M. (2011) TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. American journal of human genetics. 89(6):713-730
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
Kelly, G.M. and Reversade, B. (1997) Characterization of a cDNA encoding a novel band 4.1-like protein in zebrafish. Biochemistry and cell biology = Biochimie et biologie cellulaire. 75:623-632