ZFIN ID: ZDB-PERS-160309-1
Saunier, Sophie
Email: sophie.saunier@fondationimagine.org
URL:
Affiliation: Saunier's lab
Address:
Country: France
Phone:
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Dupont, M.A., Humbert, C., Huber, C., Siour, Q., Guerrera, I.C., Jung, V., Christensen, A., Pouliet, A., Garfa-Traore, M., Nitschké, P., Injeyan, M., Millar, K., Chitayat, D., Shannon, P., Girisha, K.M., Shukla, A., Mechler, C., Lorentzen, E., Benmerah, A., Cormier-Daire, V., Jeanpierre, C., Saunier, S., Delous, M. (2019) Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. Human molecular genetics. 28(16):2720-2737
Reilly, M.L., Stokman, M.F., Magry, V., Jeanpierre, C., Alves, M., Paydar, M., Hellinga, J., Delous, M., Pouly, D., Failler, M., Martinovic, J., Loeuillet, L., Leroy, B., Tantau, J., Roume, J., Evans, C.G., Shan, X., Filges, I., Allingham, J.S., Kwok, B.H., Saunier, S., Giles, R.H., Benmerah, A. (2018) Loss of function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. Human molecular genetics. 28(5):778-795
Ryan, R., Failler, M., Reilly, M.L., Garfa-Traore, M., Delous, M., Filhol, E., Reboul, T., Bole-Feysot, C., Nitschké, P., Baudouin, V., Amselem, S., Escudier, E., Legendre, M., Benmerah, A., Saunier, S. (2017) Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. Human molecular genetics. 27(2):266-282
Macia, M.S., Halbritter, J., Delous, M., Bredrup, C., Gutter, A., Filhol, E., Mellgren, A.E., Leh, S., Bizet, A., Braun, D.A., Gee, H.Y., Silbermann, F., Henry, C., Krug, P., Bole-Feysot, C., Nitschké, P., Joly, D., Nicoud, P., Paget, A., Haugland, H., Brackmann, D., Ahmet, N., Sandford, R., Cengiz, N., Knappskog, P.M., Boman, H., Linghu, B., Yang, F., Oakeley, E.J., Saint Mézard, P., Sailer, A.W., Johansson, S., Rødahl, E., Saunier, S., Hildebrandt, F., Benmerah, A. (2017) Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. American journal of human genetics. 100:1-11
Grampa, V., Delous, M., Zaidan, M., Odye, G., Thomas, S., Elkhartoufi, N., Filhol, E., Niel, O., Silbermann, F., Lebreton, C., Collardeau-Frachon, S., Rouvet, I., Alessandri, J.L., Devisme, L., Dieux-Coeslier, A., Cordier, M.P., Capri, Y., Khung-Savatovsky, S., Sigaudy, S., Salomon, R., Antignac, C., Gubler, M.C., Benmerah, A., Terzi, F., Attié-Bitach, T., Jeanpierre, C., Saunier, S. (2016) Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. PLoS Genetics. 12:e1005894
Bizet, A.A., Becker-Heck, A., Ryan, R., Weber, K., Filhol, E., Krug, P., Halbritter, J., Delous, M., Lasbennes, M.C., Linghu, B., Oakeley, E.J., Zarhrate, M., Nitschké, P., Garfa-Traore, M., Serluca, F., Yang, F., Bouwmeester, T., Pinson, L., Cassuto, E., Dubot, P., Elshakhs, N.A., Sahel, J.A., Salomon, R., Drummond, I.A., Gubler, M.C., Antignac, C., Chibout, S., Szustakowski, J.D., Hildebrandt, F., Lorentzen, E., Sailer, A.W., Benmerah, A., Saint-Mezard, P., Saunier, S. (2015) Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nature communications. 6:8666
Halbritter, J., Bizet, A.A., Schmidts, M., Porath, J.D., Braun, D.A., Gee, H.Y., McInerney-Leo, A.M., Krug, P., Filhol, E., Davis, E.E., Airik, R., Czarnecki, P.G., Lehman, A.M., Trnka, P., Nitschké, P., Bole-Feysot, C., Schueler, M., Knebelmann, B., Burtey, S., Szabó, A.J., Tory, K., Leo, P.J., Gardiner, B., McKenzie, F.A., Zankl, A., Brown, M.A., Hartley, J.L., Maher, E.R., Li, C., Leroux, M.R., Scambler, P.J., Zhan, S.H., Jones, S.J., Kayserili, H., Tuysuz, B., Moorani, K.N., Constantinescu, A., Krantz, I.D., Kaplan, B.S., Shah, J.V., Hurd, T.W., Doherty, D., Katsanis, N., Duncan, E.L., Otto, E.A., Beales, P.L., Mitchison, H.M., Saunier, S., and Hildebrandt, F. (2013) Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American journal of human genetics. 93(5):915-925
Hoff, S., Halbritter, J., Epting, D., Frank, V., Nguyen, T.M., van Reeuwijk, J., Boehlke, C., Schell, C., Yasunaga, T., Helmstädter, M., Mergen, M., Filhol, E., Boldt, K., Horn, N., Ueffing, M., Otto, E.A., Eisenberger, T., Elting, M.W., van Wijk, J.A., Bockenhauer, D., Sebire, N.J., Rittig, S., Vyberg, M., Ring, T., Pohl, M., Pape, L., Neuhaus, T.J., Elshakhs, N.A., Koon, S.J., Harris, P.C., Grahammer, F., Huber, T.B., Kuehn, E.W., Kramer-Zucker, A., Bolz, H.J., Roepman, R., Saunier, S., Walz, G., Hildebrandt, F., Bergmann, C., and Lienkamp, S.S. (2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nature Genetics. 45(8):951-6

NON-ZEBRAFISH PUBLICATIONS