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

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

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

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

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

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

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

by 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.
Published 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

by 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.
Published 2014

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

by 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.
Published 2018

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

by 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.
Published 2021

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

by 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
Published 2020

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

by 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.
Published 2019

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

by 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.
Published 2019

Analysis of LRRK2 functional domains in nondominant Parkinson disease

by 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.
Published 2018

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

by 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.
Published 2014

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

by 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
Published 2020

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

by 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
Published 2020

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

by 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.
Published 2019

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

by 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.
Published 2021