Chan, Sock Hoai; Bylstra, Yasmin; Teo, Jing Xian; Kuan, Jyn Ling; Bertin, Nicolas; Gonzalez-Porta, Mar; Hebrard, Maxime; Tirado-Magallanes, Roberto; Tan, Joanna Hui Juan; Jeyakani, Justin; Li, Zhihui; Chai, Jin Fang; Chong, Yap Seng; Davila, Sonia; Goh, Liuh Ling; Lee, Eng Sing; Wong, Eleanor; Wong, Tien Yin; Prabhakar, Shyam; Liu, Jianjun; Cheng, Ching-Yu; Eisenhaber, Birgit; Karnani, Neerja; Leong, Khai Pang; Sim, Xueling; Yeo, Khung Keong; Chambers, John C.; Tai, E-Shyong; Tan, Patrick; Jamuar, Saumya S.; Ngeow, Joanne; Lim, Weng Khong

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients

新加坡人肥厚性心肌病的遗传研究确定了中国患者中常见的TNNI3和TNNT2变异

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2020-10-0122

OAAI

Pua, Chee Jian; Tham, Nevin; Chin, Calvin W. L.; Walsh, Roddy; Khor, Chiea Chuen; Toepfer, Christopher N.; Repetti, Giuliana G.; Garfinkel, Amanda C.; Ewoldt, Jourdan F.; Cloonan, Paige; Chen, Christopher S.; Lim, Shi Qi; Cai, Jiashen; Loo, Li Yang; Kong, Siew Ching; Chiang, Charleston W. K.; Whiffin, Nicola; de Marvao, Antonio; Lio, Pei Min; Hii, An An; Yang, Cheng Xi; Le, Thu Thao; Bylstra, Yasmin; Lim, Weng Khong; Teo, Jing Xian; Padilha, Kallyandra; Silva, Gabriela V.; Pan, Bangfen; Govind, Risha; Buchan, Rachel J.; Barton, Paul J. R.; Tan, Patrick; Foo, Roger; Yip, James W. L.; Wong, Raymond C. C.; Chan, Wan Xian; Pereira, Alexandre C.; Tang, Hak Chiaw; Jamuar, Saumya Shekhar; Ware, James S.; Seidman, Jonathan G.; Seidman, Christine E.; Cook, Stuart A.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

ClinGen专家164听力损失基因-疾病对的临床有效性治疗

GENETICS IN MEDICINE

IF6.2

2019-10-0170

OAAI

DiStefano, Marina T.; Hemphill, Sarah E.; Oza, Andrea M.; Siegert, Rebecca K.; Grant, Andrew R.; Hughes, Madeline Y.; Cushman, Brandon J.; Azaiez, Hela; Booth, Kevin T.; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti, Lisa A.; Tekin, Mustafa; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Amr, Sami S.; Abdelhak, Sonia; Alexander, John; Avraham, Karen; Bhatia, Neha; Bai, Donglin; Boczek, Nicole; Brownstein, Zippora; Burt, Rachel; Bylstra, Yasmin; del Castillo, Ignacio; Choi, Byung Yoon; Downie, Lilian; Friedman, Thomas; Giersch, Anne; Goh, Jasmine; Greinwald, John; Griffith, Andrew J.; Hernandez, Amy; Holt, Jeffrey; Hosoya, Makoto; Ying, Lim Jiin; Jain, Kanika; Kim, Un-Kyung; Kremer, Hannie; Krantz, Ian; Leal, Suzanne; Lewis, Morag; Liu, Xue Zhong; Low, Wendy; Lu, Yu; Luo, Minjie; Masmoudi, Saber; Ming, Tan Yuen; Moreno-Pelayo, Miguel Angel; Morin, Matias; Morton, Cynthia; Murray, Jaclyn; Mutai, Hideki; Nara, Kiyomitsu; Pandya, Arti; Pei-Rong, Sylvia Kam; Smith, Richard J. H.; Jamuar, Saumya Shekhar; Suer, Funda Elif; Usami, Shin-Ichi; Van Camp, Guy; Yamazawa, Kazuki; Yuan, Hui-Jun; Black-Zeigelbein, Elizabeth; Zhang, Keijan

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

东南亚的人口基因组学捕获了可治疗遗传性疾病的出乎意料的高载波频率

GENETICS IN MEDICINE

IF6.2

2019-01-0121

OAAI

Bylstra, Yasmin; Kuan, Jyn Ling; Lim, Weng Khong; Bhalshankar, Jaydutt Digambar; Teo, Jing Xian; Davila, Sonia; Teh, Bin Tean; Rozen, Steve; Tan, Ene-Choo; Liew, Wendy Kein Meng; Yeo, Khung Keong; Tan, Patrick; Kumar, Vikrant; Blocker, Christropher; Wu, Ryanne; Lai, Angeline; Tan, Ee Shien; Ng, Ivy; Cham, Breana; Lim, Jiin Ying; Goh, Jasmine; Lim, Eileen; Lim, Charis; Law, Hai Yang; Brett, Maggie; Ching, Siew; Wong, Tien Yin; Tin, Aung; Carson, John Allen; Tai, E-Shyong; Sim, Xueling; Reversade, Bruno; Venkatesh, Brygappa; Teo, Yik Ying; Saw, Seang Mei; Cheng, Ching-Yu; Cook, Stuart; Foo, Roger; Jamuar, Saumya Shekhar

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders (vol 20, 29961769, 2018)

GENETICS IN MEDICINE

IF6.2

2018-12-011

OAAI

Ethical frameworks for obtaining informed consent in tumour profiling: an evidence-based case for Singapore

HUMAN GENOMICS

IF4.3

2017-12-087

OAAI

Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer

JOURNAL OF MOLECULAR DIAGNOSTICS