Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

由 Tan E.-K., Skipper L., Chua E., Wong M.-C., Pavanni R., Bonnard C., Kolatkar P., Liu J.-J.
出版 2018

Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk

由 Einarsdottir, K., Humphreys, K., Hall, P., Wedren, S., Bonnard, C., Li, Y., Liu, E.T., Liu, J., Li, Y., Chia, K.S.
出版 2011

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

由 Hettiaracchchi, D, Bonnard, C, Jayawardana, S.M.A, Ng, A.Y.J, Tohari, S, Venkatesh, B, Reversade, B, Singaraja, R, Dissanayake, V.H.W
出版 2020

Linkage disequilibrium mapping of CHEK2: Common variation and breast cancer risk

由 Einarsdottir, K., Humphreys, K., Palmgren, J., Sjolander, A., Hall, P., Wedren, S., Bonnard, C., Li, Y., Liu, E.T., Liu, J., Iles, M.M., Chia, K.S.
出版 2011

Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: A population-based case-control and follow-up study

由 Einarsdóttir, K., Rosenberg, L.U., Humphreys, K., Bonnard, C., Palmgren, J., Li, Y., Li, Y., Chia, K.S., Liu, E.T., Hall, P., Liu, J., Wedrén, S.
出版 2014

Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease

由 Skipper L., Li Y., Bonnard C., Pavanni R., Yih Y., Chua E., Sung W.-K., Tan L., Wong M.-C., Tan E.-K., Liu J.
出版 2018

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

由 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.
出版 2021

ESR1 and EGF genetic variation in relation to breast cancer risk and survival

由 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
出版 2020

Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility

由 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.
出版 2019

Genetic association and expression studies indicate a role of Toll-like receptor 8 in pulmonary tuberculosis

由 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.
出版 2019

Analysis of LRRK2 functional domains in nondominant Parkinson disease

由 Skipper L., Shen H., Chua E., Bonnard C., Kolatkar P., Tan L.C.S., Jamora R.D., Puvan K., Puong K.Y., Zhao Y., Pavanni R., Wong M.C., Yuen Y., Farrer M., Liu J.J., Tan E.K.
出版 2018

Genetic variation of ESR1 and its co-activator PPARGC1B is synergistic in augmenting the risk of estrogen receptor-positive breast cancer

由 Li, Y., Li, Y., Wedrén, S., Li, G., Charn, T.H., Desai, K.V., Bonnard, C., Czene, K., Humphreys, K., Darabi, H., Einarsdóttir, K., Heikkinen, T., Aittomäki, K., Blomqvist, C., Chia, K.S., Nevanlinna, H., Hall, P., Liu, E.T., Liu, J.
出版 2014

A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

由 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
出版 2020

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

由 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
出版 2020

A genome-wide association study identifies novel and functionally related susceptibility loci for Kawasaki disease

由 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.
出版 2019

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

由 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.
出版 2021