Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

Autor: Daniel Moynihan, Sean Monaco, Teck Wah Ting, Kaavya Narasimhalu, Jenny Hsieh, Sylvia Kam, Jiin Ying Lim, Weng Khong Lim, Sonia Davila, Yasmin Bylstra, Iswaree Devi Balakrishnan, Mark Heng, Elian Chia, Khung Keong Yeo, Bee Keow Goh, Ritu Gupta, Tele Tan, Gareth Baynam, Saumya Shekhar Jamuar

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)

Externí odkaz: https://doaj.org/article/694746cfb4a14bdd8727e0d06b011d18

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

Autor: Yasmin Bylstra, Weng Khong Lim, Sylvia Kam, Koei Wan Tham, R. Ryanne Wu, Jing Xian Teo, Sonia Davila, Jyn Ling Kuan, Sock Hoai Chan, Nicolas Bertin, Cheng Xi Yang, Steve Rozen, Bin Tean Teh, Khung Keong Yeo, Stuart Alexander Cook, Saumya Shekhar Jamuar, Geoffrey S. Ginsburg, Lori A. Orlando, Patrick Tan

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-11 (2021)

Abstract Background Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rend

Externí odkaz: https://doaj.org/article/c63732b2d27a4a86a9c0d7a20529368c

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

Autor: R. Ryanne Wu, Rehena Sultana, Yasmin Bylstra, Saumya Jamuar, Sonia Davila, Weng Khong Lim, Geoffrey S. Ginsburg, Lori A. Orlando, Khung Keong Yeo, Stuart A. Cook, Patrick Tan

Publikováno v: Preventive Medicine Reports, Vol 18, Iss , Pp - (2020)

Information technology applications for patient-collection of family health history (FHH) increase identification of elevated-risk individuals compared to usual care. It is unknown if the method of collection impacts data collected or if simply going

Externí odkaz: https://doaj.org/article/6072f03b04f2468faffe6be7da0487fc

Ethical frameworks for obtaining informed consent in tumour profiling: an evidence-based case for Singapore

Autor: Yasmin Bylstra, Tamra Lysaght, Jyothi Thrivikraman, Sangeetha Watson, Patrick Tan

Publikováno v: Human Genomics, Vol 11, Iss 1, Pp 1-11 (2017)

Abstract Background Genomic profiling of malignant tumours has assisted clinicians in providing targeted therapies for many serious cancer-related illnesses. Although the characterisation of somatic mutations is the primary aim of tumour profiling fo

Externí odkaz: https://doaj.org/article/88ae7aac27a943e1b06ebd5f6151affe

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

Autor: Christine E. Seidman, Amanda C Garfinkel, Weng Khong Lim, Thu Thao Le, Antonio de Marvao, Risha Govind, Giuliana G. Repetti, Alexandre C. Pereira, Nicola Whiffin, Gabriela V. Silva, Cheng Xi Yang, James Yip, Charleston W. K. Chiang, Roddy Walsh, Roger Foo, Kallyandra Padilha, Jonathan G. Seidman, Hak Chiaw Tang, Jiashen Cai, Siew Ching Kong, Li Yang Loo, James S. Ware, Chee Jian Pua, Nevin Tham, Bangfen Pan, Paul J.R. Barton, Chiea Chuen Khor, Jing Xian Teo, Yasmin Bylstra, Saumya Shekhar Jamuar, Christopher S. Chen, Christopher N. Toepfer, Patrick Tan, An An Hii, Wan Xian Chan, Stuart A. Cook, Raymond Wong, Calvin W. L. Chin, Pei Min Lio, Paige Cloonan, Jourdan F. Ewoldt, Shi Qi Lim, Rachel Buchan

Publikováno v: Circulation. Cardiovascular Genetics
Circulation. Genomic and precision medicine, vol 13, iss 5
Circulation: Genomic and Precision Medicine, 13, 424-434. Lippincott Williams and Wilkins Ltd.

Supplemental Digital Content is available in the text.
Background: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry. Methods: We sequenced HCM disease genes in Singaporean pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba735e75a6ab11bc4382bcb45d8c222
https://doi.org/10.1161/circgen.119.002823