Pathogenesis of cholangiocarcinoma: From genetics to signalling pathways

by Kongpetch, Sarinya, Jusakul, Apinya, Ong, Choonkiat, Lim, Weng Khong, Rozen, Steve G., Tan, Boon Ooi Patrick, Teh, Bin Tean
Published 2016

High diagnostic utility incorporating a targeted neurodegeneration gene panel with MRI brain diagnostic algorithms in patients with young-onset cognitive impairment with leukodystr...

by Chen, Zhiyong, Tan, Yi Jayne, Lian, Michelle Mulan, Tandiono, Moses, Foo, Jia Nee, Lim, Weng Khong, Kandiah, Nagaendran, Tan, Eng-King, Ng, Adeline S. L.
Published 2021

Novel optineurin frameshift insertion in a family with frontotemporal dementia and parkinsonism without amyotrophic lateral sclerosis

by Dominguez, Jacqueline, Yu, Jeryl Tan, Tan, Jayne Yi, Ng, Arlene, De Guzman, Ma Fe, Natividad, Boots, Daroy, Ma Luisa, Cano, Jemellee, Yu, Justine, Lian, Michelle Mulan, Zeng, Li, Lim, Weng Khong, Foo, Jia Nee, Ng, Adeline S. L.
Published 2021

C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort

by Tan, Yi Jayne, Yong, Alisa C. W., Foo, Jia Nee, Lian, Michelle M., Lim, Weng Khong, Dominguez, Jacqueline, Fong, Zhi Hui, Narasimhalu, Kaavya, Chiew, Hui Jin, Ng, Kok Pin, Ting, Simon K. S., Kandiah, Nagaendran, Ng, Adeline S. L.
Published 2023

Investigation into the origins of an ancient BRCA1 founder mutation identified among Chinese families in Singapore

by Shaw, Tarryn, Chan, Sock Hoai, Teo, Jing Xian, Chong, Siao Ting, Li, Shao-Tzu, Courtney, Eliza, Ishak, Diana, Sankar, Haresh, Ang, Zoe Li Ting, Chiang, Jianbang, Loh, Marie, Zhou, Li, Lee, Soo Chin, Yeh, Hui-Yuan, Kolinjivadi, Arun Mouli, Lim, Weng Khong, Ngeow, Joanne
Published 2021

Expanding the DARS phenotype: late-adult onset myelopathy and leukoencephalopathy

by Tan, Ai Huey, Ng, Adeline Su Lyn, Ramli, Norlisah Mohd, Lim, Weng Khong, Cheah, Peng Loon, Teo, Jing Xian, Kuan, Jyn Ling, Tan, Yi Jayne, Lim, Jia Lun, Chew, Elaine Guo Yan, Foo, Jia Nee, Goh, Khean Jin, Tan, Eng-King, Lim, Shen-Yang
Published 2023

Expanding the DARS phenotype: Late-adult onset myelopathy and leukoencephalopathy

by Tan, Ai Huey, Ng, Adeline Su Lyn, Mohd Ramli, Norlisah, Lim, Weng Khong, Cheah, Peng Loon, Teo, Jing Xian, Kuan, Jyn Ling, Tan, Yi Jayne, Lim, Jia Lun, Chew, Elaine Guo Yan, Foo, Jia Nee, Goh, Khean Jin, Tan, Eng-King, Lim, Shen-Yang
Published 2023

Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort

by Chen, Zhiyong, Xu, Zheyu, Cheng, Qianhui, Tan, Jayne Yi, Ong, Helen L., Zhao, Yi, Lim, Weng Khong, Teo, Jing Xian, Foo, Jia Nee, Lee, Hwei Yee, Tan, Jeanne M. M., Hang, Liting, Yu, Wai-Yung, Ting, Simon K. S., Tan, Eng-King, Lim, Tchoyoson C. C., Ng, Adeline S. L.
Published 2021

Family history assessment significantly enhances delivery of precision medicine in the genomics era

by Bylstra, Yasmin, Lim, Weng Khong, Kam, Sylvia, Tham, Koei Wan, Wu, R. Ryanne, Teo, Jing Xian, Davila, Sonia, Kuan, Jyn Ling, Chan, Sock Hoai, Bertin, Nicolas, Yang, Cheng Xi, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart Alexander, Jamuar, Saumya Shekhar, Ginsburg, Geoffrey S., Orlando, Lori A., Tan, Patrick
Published 2022

Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era (Genome Medicine, (2021), 13, 1, (3), 10.1186/s13073-020-00819-1)

by Bylstra, Yasmin, Lim, Weng Khong, Kam, Sylvia, Tham, Koei Wan, Wu, R. Ryanne, Teo, Jing Xian, Davila, Sonia, Kuan, Jyn Ling, Chan, Sock Hoai, Bertin, Nicolas, Yang, Cheng Xi, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart Alexander, Jamuar, Saumya Shekhar, Ginsburg, Geoffrey S., Orlando, Lori A., Tan, Patrick
Published 2022

New insights from a multi-ethnic Asian progressive supranuclear palsy cohort

by Lim, Shen -Yang, Closas, Alfand Marl F. Dy, Tan, Ai Huey, Lim, Jia Lun, Tan, Yi Jayne, Vijayanathan, Yuganthini, Tay, Yi Wen, Khalid, Raihanah Binti Abdul, Ng, Wai Keong, Kanesalingam, Ruban, -Martin, Pablo Martinez, Annuar, Azlina Ahmad, Lit, Lei Cheng, Foo, Jia Nee, Lim, Weng Khong, Ng, Adeline Su Lyn, Tan, Eng-King
Published 2023

Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours

by Chan, Sock Hoai, Chew, Winston, Nur Diana Binte Ishak, Lim, Weng Khong, Li, Shao-Tzu, Tan, Sheng Hui, Teo, Jing Xian, Shaw, Tarryn, Chang, Kenneth, Chen, Yong, Iyer, Prasad, Tan, Enrica Ee Kar, Seng, Michaela Su-Fern, Chan, Mei Yoke, Tan, Ah Moy, Low, Sharon Yin Yee, Soh, Shui Yen, Loh, Amos Hong Pheng, Ngeow, Joanne
Published 2020

Germline mutations in cancer predisposition genes are frequent in sporadic sarcomas

by Chan, Sock Hoai, Lim, Weng Khong, Nur Diana Binte Ishak, Li, Shao-Tzu, Goh, Wei Lin, Tan, Gek San, Lim, Kiat Hon, Teo, Melissa, Ng, Cedric Chuan Young, Malik, Simeen, Tan, Mann Hong, Teh, Jonathan Yi Hui, Chin, Francis Kuok Choon, Kesavan, Sittampalam, Selvarajan, Sathiyamoorthy, Tan, Patrick, Teh, Bin Tean, Soo, Khee Chee, Mohamad Farid, Quek, Richard, Ngeow, Joanne
Published 2018

Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population

by Chang, Xuling, Gurung, Resham L, Wang, Ling, Jin, Aizhen, Li, Zheng, Wang, Renwei, Beckman, Kenneth B, Adams-Haduch, Jennifer, Meah, Wee Yang, Sim, Kar Seng, Lim, Weng Khong, Davila, Sonia, Tan, Patrick, Teo, Jing Xian, Yeo, Khung Keong, Yiamunaa, M, Liu, Sylvia, Lim, Su Chi, Liu, Jianjun, van Dam, Rob M, Friedlander, Yechiel, Koh, Woon-Puay, Yuan, Jian-Min, Khor, Chiea Chuen, Heng, Chew-Kiat, Dorajoo, Rajkumar
Published 2021

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

by 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 Campbell, Tai, E-Shyong, Tan, Patrick, Jamuar, Saumya S., Ngeow, Joanne, Lim, Weng Khong
Published 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

by 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, SG10K_Health Consortium, 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
Published 2022

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

by Pua, Chee Jian, Tham, Nevin, Chin, Calvin WL, 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 WK, 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 JR, Tan, Patrick, Foo, Roger, Yip, James WL, Wong, Raymond CC, Chan, Wan Xian, Pereira, Alexandre C, Tang, Hak Chiaw, Jamuar, Saumya Shekhar, Ware, James S, Seidman, Jonathan G, Seidman, Christine E, Cook, Stuart A
Published 2021

The Singapore national precision medicine strategy

by Wong, Eleanor, Bertin, Nicolas, Hebrard, Maxime, Tirado-Magallanes, Roberto, Bellis, Claire, Lim, Weng Khong, Chua, Chee Yong, Tong, Philomena Mei Lin, Chua, Raymond, Mak, Kenneth, Lim, Tit Meng, Cheong, Wei Yang, Thien, Kwee Eng, Goh, Khean Teik, Chai, Jin-Fang, Lee, Jimmy, Sung, Joseph Jao Yiu, Wong, Tien Yin, Chin, Calvin Woon Loong, Gluckman, Peter D., Goh, Liuh Ling, Ban, Kenneth Hon Kim, Tan, Tin Wee, Sim, Xueling, Cheng, Ching-Yu, Davila, Sonia, Karnani, Neerja, Leong, Khai Pang, Liu, Jianjun, Prabhakar, Shyam, Maurer-Stroh, Sebastian, Verma, Chandra Shekhar, Krishnaswamy, Pavitra, Goh, Rick Siow Mong, Chia, Irenaeus, Ho, Clarissa, Low, Doreen, Virabhak, Suchin, Yong, Jacklyn, Zheng, Weiling, Seow, Shih Wee, Seck, Yee Kwang, Koh, Mingshi, Chambers, John Campbell, Tai, E. Shyong, Tan, Patrick
Published 2023

ENIGMA CHEK2gether project: a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

by Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N. A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B. M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Published 2024