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EBF3-related neurodevelopment disorder affecting an individual of Singaporean Arab and Malay origin: case report and review of the literature Ramalingam, Chitra Gangadaran; Lim, Jiin Ying; Goh, Jeannette; Kam, Sylvia; Law, Hai Yang; Mislan, Nur Afiqah Binte Mohd; Ng, Ivy; Thomas, Terrence Gerard Sundram; Lim, Weng Khong; Mascarenhas, Sandra Sylvia; Jamuar, Saumya Shekhar Share Save
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Recurrent Cortical Encephalitis-Like MRI Lesion in European Descent Patient with Neuronal Intranuclear Inclusion Disease Suthiphosuwan, Suradech; Lim, Timothy Reynold; Munoz, David G.; Fam, David; Spears, Julian; Bharatha, Aditya; Chew, Elaine Guo Yan; Foo, Jia Nee; Lim, Weng Khong; Lim, Tchoyoson; Tan, Yi Jayne; Ng, Adeline Su Lyn; Supala-Berger, Agnes Share Save
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort Lieviant, Jane Andrea; Chan, Choi Mun; Bylstra, Yasmin; Jain, Kanika; Teo, Jing Xian; Lim, Wan Wan; Kam, Sylvia; Chao, Tang Wei; Chai Bin Siew, Nellie; Davila, Sonia; Vithana, Eranga Nishanthie; Mathur, Ranjana Sanjay; Tan, Tien-En; Tan, Patrick; Jamuar, Saumya S.; Fenner, Beau James; Lim, Weng Khong Share Save
Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa Kominami, Taro; Tan, Tien-En; Ushida, Hiroaki; Jain, Kanika; Goto, Kensuke; Bylstra, Yasmin M.; Sajiki, Ai Fujita; Mathur, Ranjana S.; Ota, Junya; Lim, Weng Khong; Nishiguchi, Koji M.; Fenner, Beau J. Share Save
Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population Yeo, Ellis Y. H.; Kominami, Taro; Tan, Tien-En; Babu, Lathiksha; Ong, Kevin G. S.; Tan, Weilun; Bylstra, Yasmin M.; Jain, Kanika; Tang, Rachael W. C.; Farooqui, Saadia Z.; Kam, Sylvia P. R.; Chan, Choi-Mun; Mathur, Ranjana S.; Jamuar, Saumya S.; Lim, Weng Khong; Nishiguchi, Koji Share Save
National Thalassemia Registry: a 30 year journey of implementing carrier screening in Singapore Zhang, Stella; Tan, Guek Peng; Peh, Soh Lan; Ang, Swee Lim; Kam, Sylvia; Lim, Weng Khong; Ting, Teck Wah; Lai, Angeline; Tan, Ee Shien; Jamuar, Saumya Shekhar; Law, Hai Yang; Ng, Ivy Share Save
A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes Tan, Joanna Hui Juan; Li, Zhihui; Porta, Mar Gonzalez; Rajaby, Ramesh; Lim, Weng Khong; Tan, Ye An; Jimenez, Rodrigo Toro; Teo, Renyi; Hebrard, Maxime; Ow, Jack Ling; Ang, Shimin; Jeyakani, Justin; Chong, Yap Seng; Lim, Tock Han; Goh, Liuh Ling; Tham, Yih Chung; Leong, Khai Pang; Chin, Calvin Woon Loong; Davila, Sonia; Karnani, Neerja; Cheng, Ching-Yu; Chambers, John; Tai, E. Shyong; Liu, Jianjun; Sim, Xueling; Sung, Wing Kin; Prabhakar, Shyam; Tan, Patrick; Bertin, Nicolas Share Save
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia Ng, Adeline Su Lyn; Tan, Ai Huey; Tan, Yi Jayne; Lim, Jia Lun; Lian, Michelle Mulan; Dy Closas, Alfand Marl; Ahmad-Annuar, Azlina; Viswanathan, Shanthi; Chia, Yuen Kang; Foo, Jia Nee; Lim, Weng Khong; Tan, Eng-King; Lim, Shen-Yang Share Save
Transcriptomic convergence despite genomic divergence drive field cancerization in synchronous squamous tumors Tan, Qiu Xuan; Shannon, Nicholas B.; Lim, Weng Khong; Teo, Jing Xian; Yap, Daniel R. Y.; Lek, Sze Min; Tan, Joey W. S.; Tan, Shih Jia J.; Hendrikson, Josephine; Liu, Ying; Ng, Gillian; Chong, Clara Y. L.; Guo, Wanyu; Koh, Kelvin K. N.; Ng, Cedric C. Y.; Rajasegaran, Vikneswari; Wong, Jolene S. M.; Seo, Chin Jin; Ong, Choon Kiat; Lim, Tony K. H.; Teh, Bin Tean; Kon, Oi Lian; Chia, Claramae S.; Soo, Khee Chee; Iyer, N. Gopalakrishna; Ong, Chin-Ann J. Share Save
Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases (vol, 5056, 2024) Moynihan, Daniel; Monaco, Sean; Ting, Teck Wah; Narasimhalu, Kaavya; Hsieh, Jenny; Kam, Sylvia; Lim, Jiin Ying; Lim, Weng Khong; Davila, Sonia; Bylstra, Yasmin; Balakrishnan, Iswaree Devi; Heng, Mark; Chia, Elian; Yeo, Khung Keong; Goh, Bee Keow; Gupta, Ritu; Tan, Tele; Baynam, Gareth; Jamuar, Saumya Shekhar Share Save
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases Moynihan, Daniel; Monaco, Sean; Ting, Teck Wah; Narasimhalu, Kaavya; Hsieh, Jenny; Kam, Sylvia; Lim, Jiin Ying; Lim, Weng Khong; Davila, Sonia; Bylstra, Yasmin; Balakrishnan, Iswaree Devi; Heng, Mark; Chia, Elian; Yeo, Khung Keong; Goh, Bee Keow; Gupta, Ritu; Tan, Tele; Baynam, Gareth; Jamuar, Saumya Shekhar Share Save
Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes Fan, Qiao; Li, Hengtong; Wang, Xiaomeng; Tham, Yih-Chung; Teo, Kelvin Yi Chong; Yasuda, Masayuki; Lim, Weng Khong; Kwan, Yuet Ping; Teo, Jing Xian; Chen, Ching-Jou; Chen, Li Jia; Ahn, Jeeyun; Davila, Sonia; Miyake, Masahiro; Tan, Patrick; Park, Kyu Hyung; Pang, Chi Pui; Khor, Chiea Chuan; Wong, Tien Yin; Yanagi, Yasuo; Cheung, Chui Ming Gemmy; Cheng, Ching-Yu Share Save
New insights from a multi-ethnic Asian progressive supranuclear palsy cohort 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 Share Save
C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort Tan, Yi Jayne; Yong, Alisa C. W.; Foo, Jia Nee; Lian, Michelle M. 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. Share Save
The Singapore National Precision Medicine Strategy 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 D.; Gluckman, Peter; Goh, Liuh Ling; Ban, Kenneth Hon Kim; Tan, Tin Wee M.; Van Dam, Rob M.; Teo, Yik Ying; Loh, Marie; Eillot, Paul; Lee, Eng Sing; Ngeow, Joanne; Riboli, Elio; Dalan, Rinkoo; Kassam, Irfahan; Lakshmanan, Lakshmi Narayanan; Lim, Tock Han; Ng, Hong Kiat; Mina, Theresia; Tay, Darwin; Sabanayagam, Charumathi; Tham, Yih Chung; Rim, Tyler; Aung, Tin; Chee, Miao Ling; Li, Hengtong; Chee, Miao Li; Yeo, Khung Keong; Cook, Stuart Alexander; Pua, Chee Jian; Yang, Chengxi; Chong, Yap Seng; Eriksson, Johan Gunnar; Tan, Kok Hian; Yap, Fabian; Lim, Chia Wei; Tsai, Pi Kuang; Chew, Wen Jie; Sim, Wey Ching; Toh, Li-xian Grace; Lin, Clarabelle Bitong; Sia, Yee Yen; Koh, Tat Hung; Meah, Wee Yang; Tan, Joanna Hui Juan; Jeyakani, Justin; Ow, Jack; Ang, Shimin; Malik, Ashar J.; Kenanov, Dimitar; 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 C.; Tai, E. Shyong; Tan, Patrick Share Save
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