关注
Carine Bonnard
Carine Bonnard
Principal Investigator
在 asrl.a-star.edu.sg 的电子邮件经过验证
标题
引用次数
引用次数
年份
TRAF1–C5 as a Risk Locus for Rheumatoid Arthritis — A Genomewide Study
RM Plenge, M Seielstad, L Padyukov, AT Lee, EF Remmers, B Ding, ...
New England Journal of Medicine 357 (12), 1199-1209, 2007
10562007
Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation
FL Zhong, O Mamaï, L Sborgi, L Boussofara, R Hopkins, K Robinson, ...
Cell 167 (1), 187-202. e17, 2016
4062016
Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis
S Davila, ML Hibberd, R Hari Dass, HEE Wong, E Sahiratmadja, ...
PLoS genetics 4 (10), e1000218, 2008
3372008
A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease
D Burgner, S Davila, WB Breunis, SB Ng, Y Li, C Bonnard, L Ling, ...
PLoS genetics 5 (1), e1000319, 2009
2902009
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin, K Yoshiura, ...
Nature genetics 49 (2), 249-255, 2017
1322017
New genetic associations detected in a host response study to hepatitis B vaccine
S Davila, FEM Froeling, A Tan, C Bonnard, GJ Boland, H Snippe, ...
Genes & Immunity 11 (3), 232-238, 2010
1172010
Katanin p80 regulates human cortical development by limiting centriole and cilia number
WF Hu, O Pomp, T Ben-Omran, A Kodani, K Henke, GH Mochida, ...
Neuron 84 (6), 1240-1257, 2014
1152014
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
C Bonnard, AC Strobl, M Shboul, H Lee, B Merriman, SF Nelson, ...
Nature genetics 44 (6), 709-713, 2012
872012
Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease
L Skipper, Y Li, C Bonnard, R Pavanni, Y Yih, E Chua, WK Sung, L Tan, ...
Human molecular genetics 14 (23), 3549-3556, 2005
872005
ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasome
KS Robinson, GA Toh, P Rozario, R Chua, S Bauernfried, Z Sun, ...
Science 377 (6603), 328-335, 2022
822022
Analysis of LRRK2 functional domains in nondominant Parkinson disease
L Skipper, H Shen, E Chua, C Bonnard, P Kolatkar, LCS Tan, RD Jamora, ...
Neurology 65 (8), 1319-1321, 2005
802005
Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late‐onset Parkinson's disease
EK Tan, L Skipper, E Chua, MC Wong, R Pavanni, C Bonnard, P Kolatkar, ...
Movement disorders: official journal of the Movement Disorder Society 21 (7 …, 2006
702006
Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility
YL Low, Y Li, K Humphreys, A Thalamuthu, Y Li, H Darabi, S Wedren, ...
PLoS genetics 6 (7), e1001012, 2010
622010
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
PH Chia, FL Zhong, S Niwa, C Bonnard, KH Utami, R Zeng, H Lee, ...
Elife 7, e32451, 2018
612018
KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis
L Gueneau, RJ Fish, HE Shamseldin, N Voisin, FT Mau-Them, ...
The American Journal of Human Genetics 102 (1), 116-132, 2018
582018
Linkage Disequilibrium Mapping of CHEK2: Common Variation and Breast Cancer Risk
K Einarsdóttir, K Humphreys, C Bonnard, J Palmgren, MM Iles, ...
PLoS medicine 3 (6), e168, 2006
532006
ESR1 and EGFgenetic variation in relation to breast cancer risk and survival
K Einarsdóttir, H Darabi, Y Li, YL Low, YQ Li, C Bonnard, A Sjölander, ...
Breast cancer research 10, 1-9, 2008
482008
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
H Hengel, C Bosso-Lefèvre, G Grady, E Szenker-Ravi, H Li, S Pierce, ...
Nature communications 11 (1), 595, 2020
442020
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
MM Oud, C Bonnard, DA Mans, U Altunoglu, S Tohari, AYJ Ng, A Eskin, ...
Cilia 5, 1-11, 2016
442016
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
CKL Ng, M Shboul, V Taverniti, C Bonnard, H Lee, A Eskin, SF Nelson, ...
Human Molecular Genetics 24 (11), 3163-3171, 2015
392015
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