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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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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
Pharmacogenomics in psychiatry: Practice recommendations from an Asian perspective (2024) Goh, Shih Ee; Jamuar, Saumya Shekhar; Chua, Siew Eng; Yeo, Derrick Chen Kuan; Goh, Jerome Hern Yee; Chin, Chee Hon; Karuvetil, Mohamed Zakir; Lee, Ee Lian; Fung, Daniel Shuen Sheng; Tan, Giles Ming Yee 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
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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features Shao, Diane D.; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R. Sean; Smith, Richard S.; Majmundar, Amar J.; Ameziane, Najim; Neil, Jennifer E.; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S.; Schlaeger, Thorsten M.; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z.; Rento, Lariza M.; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A. James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A. Share Save
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients 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. Share Save
Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency Tan, Enrica E. K.; Hopkins, Richard A.; Lim, Chrissie K.; Jamuar, Saumya S.; Ong, Christina; Thoon, Koh C.; Koh, Mark J. A.; Shin, Eun Mong; Lian, Derrick W. Q.; Weerasooriya, Madhushanee; Lee, Christopher Z. W.; Soetedjo, Andreas Alvin Pumomo; Lim, Chang Siang; Au, Veonice B.; Chua, Edmond; Lee, Hui Yin; Jones, Leigh Ann; James, Sharmy S.; Kaliaperumal, Nivashini; Kwok, Jeffery; Tan, Ee Shien; Thomas, Biju; Wu, Lynn Xue; Ho, Lena; Fairhurst, Anna Marie; Ginhoux, Florent; Teo, Adrian K. K.; Zhang, Yong Liang; Ong, Kok Huar; Yu, Weimiao; Venkatesh, Byrappa; Tergaonkar, Vinay; Reversade, Bruno; Chin, Keh Chuang; Tan, Ah Moy; Liew, Woei Kang; Connolly, John E. Share Save
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Hengel, Holger; Bosso-Lefevre, Celia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Elise; Tan, Thong-Teck; Eio, Michelle Y.; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M.; Gunay-Aygun, Meral; Muriello, Michael J.; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G.; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michel A. A. P.; Oegema, Renske; Mitchell, Wendy G.; Pierson, Tyler Mark; Andrews, Marisa V.; Willing, Marcia C.; Rodan, Lance H.; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H.; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M.; Hashem, Mais O.; AlSayed, Moeenaldeen D.; Abdulrahim, Maha M.; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel A. H.; Faqeih, Eissa A.; Al Asmari, Ali; Algain, Sulwan M.; Jad, Lamyaa A.; Aldhalaan, Hesham M.; Helbig, Ingo; Koolen, David A.; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E.; Klee, Eric W.; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schuele, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A.; Stewart, James C.; Claridge-Chang, Adam; Lefeber, Dirk J.; Alkuraya, Fowzan S.; Mathuru, Ajay S.; Venkatesh, Byrappa; Barycki, Joseph J.; Simpson, Melanie A.; Jamuar, Saumya S.; Schoels, Ludger; Reversade, Bruno Share Save
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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders (vol 20, 29961769, 2018) 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; Saw, Seang Mei; Cheng, Ching-Yu; Cook, Stuart; Foo, Roger; Jamuar, Saumya Shekhar Share Save
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