Clinical application of next-generation sequencing for Mendelian diseases

بواسطة Jamuar, S.S, Tan, E.-C
منشور في 2020

Therapeutics in paediatric genetic diseases: current and future landscape

بواسطة Koh, Ai Ling, Jamuar, Saumya Shekhar
منشور في 2023

Using high performance computing to create and freely distribute the South Asian genomic database, necessary for precision medicine in this population

بواسطة Shah, A.H, Picker, J.D, Jamuar, S.S
منشور في 2020

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

بواسطة Lim, E.C, Brett, M, Lai, A.H, Lee, S.-P, Tan, E.-S, Jamuar, S.S, Ng, I.S, Tan, E.-C
منشور في 2020

Evaluation of family health history collection methods impact on data and risk assessment outcomes

بواسطة Wu, R.R., Sultana, R., Bylstra, Y., Jamuar, S., Davila, S., Lim, W.K., Ginsburg, G.S., Orlando, L.A., Yeo, K.K., Cook, S.A., Tan, P.
منشور في 2021

DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW

بواسطة Ong, R.Y.L., Chan, S.-W.B., Chew, S.J., Liew, W.K., Thoon, K.C., Chong, C.-Y., Yung, C.F., Sng, L.-H., Tan, A.M., Bhattacharyya, R., Jamuar, S.S., Lim, J.Y., Li, J., Nadua, K.D., Kam, K.-Q., Tan, N.W.-H.
منشور في 2021

Correction to: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders (Genetics in Medicine, (2018), 10.1038/s41436-0...

بواسطة Bylstra Y., Kuan J.L., Lim W.K., Bhalshankar J.D., Teo J.X., Davila S., Teh B.T., Rozen S., Tan E.-C., Liew W.K.M., Yeo K.K., Tan P., Saw S.M., Cheng C.-Y., Cook S., Foo R., Jamuar S.S., The SinGapore Incidental Finding (SGIF) study group
منشور في 2019

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)

بواسطة 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
منشور في 2022

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

بواسطة 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
منشور في 2022

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

بواسطة 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
منشور في 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

بواسطة 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
منشور في 2022

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

بواسطة 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.
منشور في 2019

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

بواسطة 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
منشور في 2021

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

بواسطة Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.-T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L., Reversade, B.
منشور في 2021