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

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

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

بواسطة Einarsdottir, K., Humphreys, K., Hall, P., Wedren, S., Bonnard, C., Li, Y., Liu, E.T., Liu, J., Li, Y., Chia, K.S.
منشور في 2011

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

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

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

بواسطة 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.
منشور في 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

بواسطة 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.
منشور في 2014

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

بواسطة 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.
منشور في 2018

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

بواسطة 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.
منشور في 2021

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

بواسطة 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
منشور في 2020

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

بواسطة 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.
منشور في 2019

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

بواسطة 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.
منشور في 2019

Analysis of LRRK2 functional domains in nondominant Parkinson disease

بواسطة 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.
منشور في 2018

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

بواسطة 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.
منشور في 2014

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

بواسطة 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
منشور في 2020

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

بواسطة 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
منشور في 2020

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

بواسطة 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.
منشور في 2019

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

بواسطة 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.
منشور في 2021