Bonnard, C.
156  results:
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1

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:

Hengel, H ; Bosso-Lefèvre, C ; Grady, G...
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, ....  , 2020
 
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Novel mutation in HTRA1 in a family with diffuse white matt..:

Ziaei, A ; Xu, X ; Dehghani, L...
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. (2019). Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features. Neurology: Genetics 5 (4) : 345. ScholarBank@NUS Repository. https://doi.org/10.1212/NXG.0000000000000345.  , 2019
 
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KIAA1109 Variants Are Associated with a Severe Disorder of ..:

Gueneau, L ; Fish, R.J ; Shamseldin, H.E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.12.002.  , 2018
 
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A homozygous loss-of-function camk2a mutation causes growth..:

Chia, P.H ; Zhong, F.L ; Niwa, S...
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 (2018). A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability. eLife 7 : e32451. ScholarBank@NUS Repository. https://doi.org/10.7554/eLife.32451.  , 2018
 
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Cenani-Lenz syndactyly syndrome - a case report of a family..:

Hettiaracchchi, D ; Bonnard, C ; Jayawardana, S.M.A...
Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W (2018). Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. BMC Medical Genetics 19 (1) : 125. ScholarBank@NUS Repository. https://doi.org/10.1186/s12881-018-0646-1.  , 2018
 
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A novel ICK mutation causes ciliary disruption and lethal e..:

Oud, M.M ; Bonnard, C ; Mans, D.A...
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 (2016). A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Cilia 5 (1) : 8. ScholarBank@NUS Repository. https://doi.org/10.1186/s13630-016-0029-1.  , 2016
 
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Multi-variant pathway association analysis reveals the impo..:

Low Y.L ; Li Y ; Humphreys K...
Low Y.L., Li Y., Humphreys K., Thalamuthu A., Li Y., Darabi H., Wedrén S., Bonnard C., Czene K., Iles M.M., Heikkinen T., Aittomäki K., Blomqvist C., Nevanlinna H., Hall P., Liu E.T., Liu J. (2010). Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility. PLoS Genetics 6 (7) : 1-Aug. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1001012.  , 2010
 
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A genome-wide association study identifies novel and functi..:

Burgner, D ; Davila, S ; Breunis, WB...
https://discovery.ucl.ac.uk/id/eprint/1312524/2/1312524.pdf.  , 2009
 
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Common genetic variability in ESR1 and EGF in relation to e..:

Einarsdóttir, K ; Darabi, H ; Czene, K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676544.  , 2009
 
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A genome-wide association study identifies novel and functi..:

Burgner D ; Davila S ; Breunis W.B...
Burgner D., Davila S., Breunis W.B., Ng S.B., Li Y., Bonnard C., Ling L., Wright V.J., Thalamuthu A., Odam M., Shimizu C., Burns J.C., Levin M., Kuijpers T.W., Hibberd M.L., Christiansen F., Witt C., Goldwater P., Curtis N., Palasanthiran P., Ziegler J., Nissan M., Nourse C., Kuipers I.M., Ottenkamp J.J., Geissler J., Biezeveld M., Filippini L., Brogan P., Klein N., Shah V., Dillon M., Booy R., Shingadia D., Bose A., Mukasa T., Tulloh R., Michie C., Shike H., Nievergelt C.M., Schork N.J., Newburger J.W., Baker A.L., Sundel R.P., Rowley A.H., Shulman S.T. (2009). A genome-wide association study identifies novel and functionally related susceptibility loci for Kawasaki disease. PLoS Genetics 5 (1) : e1000319. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1000319.  , 2009
 
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ESR1 and EGF genetic variation in relation to breast cancer..:

Einarsdóttir, K ; Darabi, H ; Li, Y...
Einarsdóttir, K, Darabi, H, Li, Y, Low, Y.L, Li, Y.Q, Bonnard, C, Sjölander, A, Czene, K, Wedrén, S, Liu, E.T, Hall, P, Humphreys, K, Liu, J (2008). ESR1 and EGF genetic variation in relation to breast cancer risk and survival. Breast Cancer Research 10 (1) : R15. ScholarBank@NUS Repository. https://doi.org/10.1186/bcr1861.  , 2008
 
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Genetic association and expression studies indicate a role ..:

Davila S ; Hibberd M.L ; Dass R.H...
Davila S., Hibberd M.L., Dass R.H., Wong H.E.E., Sahiratmadja E., Bonnard C., Alisjahbana B., Szeszko J.S., Balabanova Y., Drobniewski F., Van Crevel R., Van De Vosse E., Nejentsev S., Ottenhoff T.H.M., Seielstad M. (2008). Genetic association and expression studies indicate a role of Toll-like receptor 8 in pulmonary tuberculosis. PLoS Genetics 4 (10) : e1000218. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1000218.  , 2008
 
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Agenesis of cruciate ligaments and menisci causing severe k..:

Heron, D ; Bonnard, C ; Moraine, C.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734915.  , 2001
 
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