Clinical application of next-generation sequencing for Mendelian diseases

por Jamuar, Saumya Shekhar, Tan, Ene-Choo
Publicado 2015

Therapeutics in paediatric genetic diseases: current and future landscape

por Koh, Ai Ling, Jamuar, Saumya Shekhar
Publicado 2023

Editorial: AI in Healthcare: From Data to Intelligence

por Hulsen, Tim, Petkovic, Milan, Varga, Orsolya Edit, Jamuar, Saumya Shekhar
Publicado 2022

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

por Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Publicado 2019

Implementation of genomics in medical practice to deliver precision medicine for an Asian population

por Bylstra, Yasmin, Davila, Sonia, Lim, Weng Khong, Wu, Ryanne, Teo, Jing Xian, Kam, Sylvia, Lysaght, Tamra, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart A., Tan, Patrick, Jamuar, Saumya Shekhar
Publicado 2019

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

por Chen, Elaine, Facio, Flavia M., Aradhya, Kerry W., Rojahn, Susan, Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Saitta, Sulagna, Hanson-Kwan, Andrea K., Capurro, Nicole Nakousi, Takamine, Eriko, Jamuar, Saumya Shekhar, McKnight, Dianalee, Johnson, Britt, Aradhya, Swaroop
Publicado 2023

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

por Jamuar, Saumya Shekhar, Kuan, Jyn Ling, Brett, Maggie, Tiang, Zenia, Tan, Wilson Lek Wen, Lim, Jiin Ying, Liew, Wendy Kein Meng, Javed, Asif, Liew, Woei Kang, Law, Hai Yang, Tan, Ee Shien, Lai, Angeline, Ng, Ivy, Teo, Yik Ying, Venkatesh, Byrappa, Reversade, Bruno, Tan, Ene Choo, Foo, Roger
Publicado 2016

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

por 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
Publicado 2021

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

por 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
Publicado 2021

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

por Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre
Publicado 2018

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

por 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.
Publicado 2020