A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

بواسطة Sadia, Foo, Jia Nee, Khor, Chiea Chuen, Jelani, Musharraf, Ali, Ghazanfar
منشور في 2021

Effects of bonding with parents and home culture on intercultural adaptations and the moderating role of genes

بواسطة PHUA, Desiree Y., MEANEY, Michael J, KHOR, Chiea Chuen, LAU, Ivy Yee-Man, HONG, Ying-Yi
منشور في 2017

A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

بواسطة Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
منشور في 2019

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

بواسطة Kausar, Mehran, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Makitie, Outi, Asif Mir, Khor, Chiea Chuen, Foo, Jia Nee, Anees, Mariam
منشور في 2019

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

بواسطة Ajmal, Muhammad, Mir, Asif, Wahid, Sughra, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima, Kauser, Mehran, Malik, Salman Akbar, Nasir, Muhammad
منشور في 2018

Case report: expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

بواسطة Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima
منشور في 2023

Lens status influences the association between CFH polymorphisms and age-related macular degeneration: Findings from two population-based studies in Singapore

بواسطة Wong, Cheewai, Liao, Jiemin, Cheung, Chui Ming Gemmy, Khor, Chiea Chuen, Vithana, Eranga Nishanthie, Wang, Jiejin, Mitchell, Paul James, Aung Tin, Wong, Tienyin, Cheng Ching-Yu
منشور في 2015

Robust SNP-based prediction of rheumatoid arthritis through machine-learning-optimized polygenic risk score

بواسطة Lim, Ashley JW, Tyniana, C Tera, Lim, Lee Jin, Tan, Justina Wei Lynn, Koh, Ee Tzun, Chong, Samuel S, Khor, Chiea Chuen, Leong, Khai Pang G, Lee, Caroline G
منشور في 2023

Functional coding haplotypes and machine-learning feature elimination identifies predictors of Methotrexate Response in Rheumatoid Arthritis patients

بواسطة Lim, Ashley JW, Lim, Lee Jin, Ooi, Brandon NS, Koh, Ee Tzun, Tan, Justina Wei Lynn, Chong, Samuel S, Khor, Chiea Chuen, Tucker-Kellogg, Lisa, Leong, Khai Pang, Lee, Caroline G
منشور في 2022

Association analysis of PSAP variants in Parkinson's disease patients

بواسطة Chao, Yin Xia, Lee, Bernett, Ng, Ebonne Yulin, Lian, Michelle Mulan, Chew, Elaine Guo Yan, Tandiono, Moses, Li, Zheng, Khor, Chiea Chuen, Kumar, Prakash, Tan, Louis C. S., Foo, Jia Nee, Tan, Eng-King
منشور في 2021

Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood : an EWAS in multi-ethnic Asian individuals

بواسطة Chen, Yuqing, Kassam, Irfahan, Lau, Suk Hiang, Kooner, Jaspal S., Wilson, Rory, Peters, Annette, Winkelmann, Juliane, Chambers, John C., Chow, Vincent T., Khor, Chiea Chuen, Van Dam, Rob M., Teo, Yik-Ying, Loh, Marie, Sim, Xueling
منشور في 2021

Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals

بواسطة Chen, Yuqing, Kassam, Irfahan, Lau, Suk Hiang, Kooner, Jaspal S., Wilson, Rory, Peters, Annette, Winkelmann, Juliane, Chambers, John C., Chow, Vincent T., Khor, Chiea Chuen, Van Dam, Rob M., Teo, Yik-Ying, Loh, Marie, Sim, Xueling
منشور في 2022

The association of genetically determined serum glycine with cardiovascular risk in East Asians

بواسطة Chang, Xuling, Wang, Ling, Guan, Shou Ping, Kennedy, Brian K, Liu, Jianjun, Khor, Chiea-Chuen, Low, Adrian F, Chan, Mark Yan-Yee, Yuan, Jian-Min, Koh, Woon-Puay, Friedlander, Yechiel, Dorajoo, Rajkumar, Heng, Chew-Kiat
منشور في 2021

Interaction effects between Paraoxonase 1 variants and cigarette smoking on risk of coronary heart disease in a Singaporean Chinese population

بواسطة Han, Yi, Dorajoo, Rajkumar S O, Ke, Tingjing, Ayala, Burger, Chang, Xuling, Khor, Chiea Chuen, van Dam, Rob M., Yuan, Jian Min, Koh, Woon Puay, Liu, Jianjun, Goh, Yam Thiam Daniel, Friedlander, Yechiel, Heng, Chew Kiat
منشور في 2016

Machine learning using genetic and clinical data identifies a signature that robustly predicts methotrexate response in rheumatoid arthritis

بواسطة Lim, Lee Jin, Lim, Ashley JW, BRANDON OOI NICK SERN, Tan, Justina Wei Lynn, Koh, Ee Tzun, Group, Ttsh Rheumatoid Arthritis Study, Chong, Samuel S, Khor, Chiea Chuen, Tucker-Kellogg, Lisa, Lee, Caroline G, Leong, Khai Pang
منشور في 2022

The spatial organization of intra-tumour heterogeneity and evolutionary trajectories of metastases in hepatocellular carcinoma

بواسطة Zhai, Weiwei, Choo, Su-Pin, Khor, Chiea Chuen, Lim, Tony Kiat-Hon, Zhang, Tong, Phang, Su-Ting, Tiang, Zenia, Guan, Peiyong, Ng, Ming-Hwee, Lim, Jia Qi, Yao, Fei, Li, Zheng, Ng, Poh Yong, Yan, Jie, Goh, Brian K., Chung, Alexander Yaw-Fui, Soon, Wendy Wei-Jia, Sung, Ken Wing-Kin, Foo, Roger Sik-Yin, Chow, Pierce Kah-Hoe
منشور في 2018

Pharmacogenomic Prediction of Bleomycin-Induced Pneumonitis in South East Asian Hodgkin Lymphoma Patients

بواسطة Lee, Joanne Shu Xian, Poon, Li Mei, Liu, Xin, Yuen, Yi Ching, Somasundaram, Nagavalli, Chin, Suk Teng, Teoh, Chia Meng, Yan, Benedict, Chan, Hian Li Esther, Chee, Yen-Lin, Tang, Tiffany, Farzana, Noorul, Aw, Caroline Hui Ting, Khor, Chiea Chuen, Ngeow, Joanne Yuen Yie, Ong, Choon Kiat, Tai, E Shyong, Chng, Wee Joo, Goh, Boon Cher, Lee, Soo Chin, Aminkeng, Folefac
منشور في 2022

Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population

بواسطة Chang, Xuling, Gurung, Resham L, Wang, Ling, Jin, Aizhen, Li, Zheng, Wang, Renwei, Beckman, Kenneth B, Adams-Haduch, Jennifer, Meah, Wee Yang, Sim, Kar Seng, Lim, Weng Khong, Davila, Sonia, Tan, Patrick, Teo, Jing Xian, Yeo, Khung Keong, Yiamunaa, M, Liu, Sylvia, Lim, Su Chi, Liu, Jianjun, van Dam, Rob M, Friedlander, Yechiel, Koh, Woon-Puay, Yuan, Jian-Min, Khor, Chiea Chuen, Heng, Chew-Kiat, Dorajoo, Rajkumar
منشور في 2021

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

بواسطة Kato, Norihiro, Loh, Marie, Takeuchi, Fumihiko, Verweij, Niek, Wang, Xu, Zhang, Weihua, Kelly, Tanika N., Saleheen, Danish, Lehne, Benjamin, Leach, Irene Mateo, Khor, Chiea-Chuen, Mok, Zuan Yu, Sapari, Nur Sabrina, Teh, Ai Ling, Cheng, Ching-Yu, Chong, Yap Seng, Koh, Woon-Puay, Lee, Jen-Mai Jeannette, Liao, Jiemin, Van Dam, Rob Martinus, Wong, Tien-Yin, Liu, Jianjun, Vithana, Eranga Nishanthie, Teo, Yik-Ying, Tai, E. Shyong
منشور في 2016

Establishing multiple omics baselines for three Southeast Asian populations in the Singapore Integrative Omics Study

بواسطة Saw, Woei-Yuh, Tantoso, Erwin, Begum, Husna, Zhou, Lihan, Zou, Ruiyang, He, Cheng, Chan, Sze Ling, Tan, Linda Wei-Lin, Wong, Lai-Ping, Xu, Wenting, Kyin, Don Moong Nwe, Lim, Yenly, Li, Bowen, Pillai, Nisha Esakimuthu, Peterson, Trevor A, Bielawny, Tomasz, Meikle, Peter J, Mundra, Piyushkumar A, Lim, Wei-Yen, Luo, Ma, Chia, Kee-Seng, Ong, Rick Twee-Hee, Brunham, Liam R, Khor, Chiea-Chuen, Too, Heng Phon, Soong, Richie, Wenk, Markus R, Little, Peter, Teo, Yik-Ying
منشور في 2020