日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia

一名患者因多纤毛运动减少而继发支气管扩张,该患者携带新型细胞周期蛋白O致病变异。

Yap, Kim Hoong; Lim, Albert Yick Hou; Thomas, Biju; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Chong, Yan Ling; Roy, Sudipto; Reversade, Bruno

ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasome

ZAKα驱动的核糖毒性应激反应激活人NLRP1炎症小体

Robinson, Kim S; Toh, Gee Ann; Rozario, Pritisha; Chua, Rae; Bauernfried, Stefan; Sun, Zijin; Firdaus, Muhammad Jasrie; Bayat, Shima; Nadkarni, Rhea; Poh, Zhi Sheng; Tham, Khek Chian; Harapas, Cassandra R; Lim, Chrissie K; Chu, Werncui; Tay, Celest W S; Tan, Kiat Yi; Zhao, Tianyun; Bonnard, Carine; Sobota, Radoslaw; Connolly, John E; Common, John; Masters, Seth L; Chen, Kaiwen W; Ho, Lena; Wu, Bin; Hornung, Veit; Zhong, Franklin L

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

Cenani-Lenz并指综合征——一个孤立性并指家族的病例报告

Hettiaracchchi, Dineshani; Bonnard, Carine; Jayawardana, S M A; Ng, Alvin Yu Jin; Tohari, Sumanty; Venkatesh, Byrappa; Reversade, Bruno; Singaraja, Roshni; Dissanayake, V H W

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

LGI4 是一种参与雪旺细胞髓鞘形成的分泌配体,其功能丧失突变是先天性多发性关节挛缩症的病因

Xue Shifeng, Maluenda Jérôme, Marguet Florent, Shboul Mohammad, Quevarec Loïc, Bonnard Carine, Ng Alvin Yu Jin, Tohari Sumanty, Tan Thong Teck, Kong Mung Kei, Monaghan Kristin G, Cho Megan T, Siskind Carly E, Sampson Jacinda B, Rocha Carolina Tesi, Alkazaleh Fawaz, Gonzales Marie, Rigonnot Luc, Whalen Sandra, Gut Marta, Gut Ivo, Bucourt Martine, Venkatesh Byrappa, Laquerrière Annie, Reversade Bruno, Melki Judith

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization

成骨细胞中 Iroquois 同源框转录因子 3 和 5 的缺失会破坏颅骨矿化。

Cain, Corey J; Gaborit, Nathalie; Lwin, Wint; Barruet, Emilie; Ho, Samantha; Bonnard, Carine; Hamamy, Hanan; Shboul, Mohammad; Reversade, Bruno; Kayserili, Hülya; Bruneau, Benoit G; Hsiao, Edward C

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

一种新的ICK基因突变导致纤毛功能紊乱和致命性内分泌-脑-骨发育不良综合征。

Oud, Machteld M; Bonnard, Carine; Mans, Dorus A; Altunoglu, Umut; Tohari, Sumanty; Ng, Alvin Yu Jin; Eskin, Ascia; Lee, Hane; Rupar, C Anthony; de Wagenaar, Nathalie P; Wu, Ka Man; Lahiry, Piya; Pazour, Gregory J; Nelson, Stanley F; Hegele, Robert A; Roepman, Ronald; Kayserili, Hülya; Venkatesh, Byrappa; Siu, Victoria M; Reversade, Bruno; Arts, Heleen H

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

多变量通路关联分析揭示了雌激素代谢遗传决定因素在乳腺癌和子宫内膜癌易感性中的重要性

Low, Yen Ling; Li, Yuqing; Humphreys, Keith; Thalamuthu, Anbupalam; Li, Yi; Darabi, Hatef; Wedrén, Sara; Bonnard, Carine; Czene, Kamila; Iles, Mark M; Heikkinen, Tuomas; Aittomäki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli; Hall, Per; Liu, Edison T; Liu, Jianjun

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

ESR1 和 EGF 基因变异与乳腺癌风险和生存率的关系

Einarsdóttir, Kristjana; Darabi, Hatef; Li, Yi; Low, Yen Ling; Li, Yu Qing; Bonnard, Carine; Sjölander, Arvid; Czene, Kamila; Wedrén, Sara; Liu, Edison T; Hall, Per; Humphreys, Keith; Liu, Jianjun

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

遗传关联和表达研究表明 Toll 样受体 8 在肺结核中发挥作用

Davila, Sonia; Hibberd, Martin L; Hari Dass, Ranjeeta; Wong, Hazel E E; Sahiratmadja, Edhyana; Bonnard, Carine; Alisjahbana, Bachti; Szeszko, Jeffrey S; Balabanova, Yanina; Drobniewski, Francis; van Crevel, Reinout; van de Vosse, Esther; Nejentsev, Sergey; Ottenhoff, Tom H M; Seielstad, Mark

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study

TRAF1-C5 作为类风湿性关节炎的风险位点——一项全基因组研究

Plenge, Robert M; Seielstad, Mark; Padyukov, Leonid; Lee, Annette T; Remmers, Elaine F; Ding, Bo; Liew, Anthony; Khalili, Houman; Chandrasekaran, Alamelu; Davies, Leela R L; Li, Wentian; Tan, Adrian K S; Bonnard, Carine; Ong, Rick T H; Thalamuthu, Anbupalam; Pettersson, Sven; Liu, Chunyu; Tian, Chao; Chen, Wei V; Carulli, John P; Beckman, Evan M; Altshuler, David; Alfredsson, Lars; Criswell, Lindsey A; Amos, Christopher I; Seldin, Michael F; Kastner, Daniel L; Klareskog, Lars; Gregersen, Peter K