Therapeutics in paediatric genetic diseases: current and future landscape

by Koh, Ai Ling, Jamuar, Saumya Shekhar
Published 2023

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

KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis

by Roechert, Bernd, Van Hasselt, Peter M., Monroe, Glen R., Lai, Angeline Hwei Meeng, Ambusaidi Qamariya, Ambrozaitytė, Laima, Preikšaitienė, Eglė, Gueneau, Lucie, Tran-Mau-Them, Frédéric, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Allias, Fabienne, Jamuar Saumya Shekhar, Lim, J. Ying, Bonnard, Carine, Wright, Caroline F., Putoux, Audrey, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem Mais, Kurdi Wesam, Pradervand, Sylvain, Reversade, Bruno, Xenarios, Ioannis, Lesca, Gaëtan, Pippucci, Tommaso, Wiederkehr, Michaël, Van Haaften, Gijs W., Shaw-Smith, Charles J., Schindewolf, Erica M., Reymond, Alexandre, Sanlaville, Damien, Guibaud, Laurent, Kučinskas, Vaidutis, Chelly, Jamel, Alkuraya, Fowzan S.
Published 2019

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