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

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

利用人工智能驱动的基因型-表观基因型-表型方法解决综合征诊断难题

Mak, Christopher C Y; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K; Pisan, Elise; Chui, Martin M C; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C; Sanchez-Lara, Pedro A; Bombei, Hannah M; Bernat, John A; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clémence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E; Gordon, Christopher T; Doherty, Dan; Krawitz, Peter M; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H Y

Whole genome sequencing in paediatric channelopathy and cardiomyopathy

儿童离子通道病和心肌病的全基因组测序

Kwok, Sit Yee; Kwong, Anna Ka Yee; Shi, Julia Zhuo; Shih, Connie Fong Ying; Lee, Mianne; Mak, Christopher C Y; Chui, Martin; Tsao, Sabrina; Chung, Brian Hon Yin

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters

出生参数正常的辛普森-戈拉比-贝梅尔综合征1型

Chung, Brian Hon Yin; Yeow, Shu-Ling Sophie; Chan, Joshua Chun Ki; Lee, Mianne

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

揭示亲代嵌合现象:表观新生变异复发的隐藏答案

Lee, Mianne; Lui, Adrian C Y; Chan, Joshua C K; Doong, Phoenix H L; Kwong, Anna K Y; Mak, Christopher C Y; Li, Raymond H W; Kan, Anita S Y; Chung, Brian H Y

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

利用外显子组和基因组测序数据对1543名中国南方居民的隐性携带者状态进行综合分析

Chau, Jeffrey Fong Ting; Yu, Mullin Ho Chung; Chui, Martin Man Chun; Yeung, Cyrus Chun Wing; Kwok, Aaron Wing Cheung; Zhuang, Xuehan; Lee, Ryan; Fung, Jasmine Lee Fong; Lee, Mianne; Mak, Christopher Chun Yu; Ng, Nicole Ying Ting; Chung, Claudia Ching Yan; Chan, Marcus Chun Yin; Tsang, Mandy Ho Yin; Chan, Joshua Chun Ki; Chan, Kelvin Yuen Kwong; Kan, Anita Sik Yau; Chung, Patrick Ho Yu; Yang, Wanling; Lee, So Lun; Chan, Godfrey Chi Fung; Tam, Paul Kwong Hang; Lau, Yu Lung; Yeung, Kit San; Chung, Brian Hon Yin; Tang, Clara Sze Man

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

羊水细胞转录组在破译孟德尔遗传病中的诊断潜力:概念验证

Lee, Mianne; Kwong, Anna K Y; Chui, Martin M C; Chau, Jeffrey F T; Mak, Christopher C Y; Au, Sandy L K; Lo, Hei Man; Chan, Kelvin Y K; Yépez, Vicente A; Gagneur, Julien; Kan, Anita S Y; Chung, Brian H Y

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

支气管扩张症患儿及青少年的功能评估和遗传图谱

Chau, Jeffrey Fong Ting; Lee, Mianne; Chui, Martin Man Chun; Yu, Mullin Ho Chung; Fung, Jasmine Lee Fong; Mak, Christopher Chun Yu; Chau, Christy Shuk-Kuen; Siu, Ka Ka; Hung, Jacqueline; Yeung, Kit San; Kwong, Anna Ka Yee; O'Callaghan, Christopher; Lau, Yu Lung; Lee, Chun-Wai Davy; Chung, Brian Hon-Yin; Lee, So-Lun

Linking the FTO obesity rs1421085 variant circuitry to cellular, metabolic, and organismal phenotypes in vivo

将 FTO 肥胖 rs1421085 变异回路与体内细胞、代谢和生物体表型联系起来

Samantha Laber, Sara Forcisi, Liz Bentley, Julia Petzold, Franco Moritz, Kirill S Smirnov, Loubna Al Sadat, Iain Williamson, Sophie Strobel, Thomas Agnew, Shahana Sengupta, Tom Nicol, Harald Grallert, Margit Heier, Julius Honecker, Joffrey Mianne, Lydia Teboul, Rebecca Dumbell, Helen Long, Michelle

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

香港华人外显子组测序数据中可操作的药物遗传学变异及其对香港人群处方影响的预测

Yu, Mullin Ho Chung; Chan, Marcus Chun Yin; Chung, Claudia Ching Yan; Li, Andrew Wang Tat; Yip, Chara Yin Wa; Mak, Christopher Chun Yu; Chau, Jeffrey Fong Ting; Lee, Mianne; Fung, Jasmine Lee Fong; Tsang, Mandy Ho Yin; Chan, Joshua Chun Ki; Wong, Wilfred Hing Sang; Yang, Jing; Chui, William Chun Ming; Chung, Patrick Ho Yu; Yang, Wanling; Lee, So Lun; Chan, Godfrey Chi Fung; Tam, Paul Kwong Hang; Lau, Yu Lung; Tang, Clara Sze Man; Yeung, Kit San; Chung, Brian Hon Yin

A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits

一种新型小 EDRK 富集因子 2 (Serf2) 基因敲除小鼠,表现出发育和其他缺陷

Karen Cleverley, Weaverly Colleen Lee, Paige Mumford, Toby Collins, Matthew Rickman, Thomas J Cunningham, James Cleak, Joffrey Mianne, Zsombor Szoke-Kovacs, Michelle Stewart, Lydia Teboul, Cheryl Maduro, Sara Wells, Frances K Wiseman, Elizabeth M C Fisher