ZFIN Lab: Human Embryology

Genomic Features

Statement of Research Interest

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

Include unpublished citations

Szenker-Ravi, E., Ott, T., Yusof, A., Chopra, M., Khatoo, M., Pak, B., Xuan Goh, W., Beckers, A., Brady, A.F., Ewans, L.J., Djaziri, N., Almontashiri, N.A.M., Alghamdi, M.A., Alharby, E., Dasouki, M., Romo, L., Tan, W.H., Maddirevula, S., Alkuraya, F.S., Giordano, J.L., Alkelai, A., Wapner, R.J., Stals, K., Alfadhel, M., Alswaid, A.F., Bogusch, S., Schafer-Kosulya, A., Vogel, S., Vick, P., Schweickert, A., Wakeling, M., Moreau de Bellaing, A., Alshamsi, A.M., Sanlaville, D., Mbarek, H., Saad, C., Ellard, S., Eisenhaber, F., Tripolszki, K., Beetz, C., Bauer, P., Gossler, A., Eisenhaber, B., Blum, M., Bouvagnet, P., Bertoli-Avella, A., Amiel, J., Gordon, C.T., Reversade, B. (2024) CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans. American journal of human genetics. :
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:
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
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
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

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