Zobrazeno 1 - 10
of 261
pro vyhledávání: '"Saumya SHEKHAR"'
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 1-9 (2024)
Abstract Rare genetic diseases affect 5–8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data analysis in the form o
Externí odkaz:
https://doaj.org/article/55739e925c214c15a8643ef54b81199b
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
Autor:
Gabrielle Stinton, Jane A. Lieviant, Sylvia Kam, Jiin Ying Lim, Jasmine Chew-Yin Goh, Weng Khong Lim, Gareth Baynam, Tele Tan, Duc-Son Pham, Saumya Shekhar Jamuar
Publikováno v:
Rare, Vol 1, Iss , Pp 100007- (2023)
Leveraging Artificial Intelligence (AI) within the rare disease diagnostic odyssey can facilitate a decrease in diagnostic times and an increase in diagnostic rates. Among the steps involved in the odyssey, this project focused on utilizing AI to aut
Externí odkaz:
https://doaj.org/article/322f328574b045dab9429b0b8a61fc93
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
Publikováno v:
Frontiers in Artificial Intelligence, Vol 5 (2022)
Externí odkaz:
https://doaj.org/article/d8769d2d67084b9cbecc959419fc83b2
Autor:
Rina Yue Ling Ong, Su-Wan Bianca Chan, Siu Jun Chew, Woei Kang Liew, Koh Cheng Thoon, Chia-Yin Chong, Chee Fu Yung, Li-Hwei Sng, Ah Moy Tan, Rajat Bhattacharyya, Saumya Shekhar Jamuar, Jiin Ying Lim, Jiahui Li, Karen Donceras Nadua, Kai-qian Kam, Natalie Woon-Hui Tan
Publikováno v:
International Journal of Infectious Diseases, Vol 97, Iss , Pp 117-125 (2020)
Background: Disseminated Bacillus Calmette-Guérin (BCG) disease (BCGosis) is a classical feature of children with primary immunodeficiency disorders (PIDs). Methods: A 15-year retrospective review was conducted in KK Women's and Children's Hospital
Externí odkaz:
https://doaj.org/article/a42d9819a7094fddbda0c6908ceaeb01
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 1-1 (2021)
Externí odkaz:
https://doaj.org/article/b547334243994244971a55f64bd83b9f
Autor:
Saumya Shekhar Jamuar, Jyn Ling Kuan, Maggie Brett, Zenia Tiang, Wilson Lek Wen Tan, Jiin Ying Lim, Wendy Kein Meng Liew, Asif Javed, Woei Kang Liew, Hai Yang Law, Ee Shien Tan, Angeline Lai, Ivy Ng, Yik Ying Teo, Byrappa Venkatesh, Bruno Reversade, Ene Choo Tan, Roger Foo
Publikováno v:
EBioMedicine, Vol 5, Iss C, Pp 211-216 (2016)
Background: In Western cohorts, the prevalence of incidental findings (IFs) or incidentalome, referring to variants in genes that are unrelated to the patient's primary condition, is between 0.86% and 8.8%. However, data on prevalence and type of IFs
Externí odkaz:
https://doaj.org/article/9a1d349e4a744bf286343a765509a0bd
Autor:
Saumya Shekhar Jamuar MRCPCH (UK), MBBS, Ee Shien Tan MRCPCH, MBBS, Li Sun MD, MMed (Paediatric Haematology and Oncology), Hai Yang Law BSc, DPhil (Genetics), Angeline HM Lai MRCP (Paeds), MBBS, Ivy SL Ng MMed (Paeds), MRCPCH
Publikováno v:
Proceedings of Singapore Healthcare, Vol 19 (2010)
Background: Red blood cells (RBC) of patients with thalassaemia are under continuous oxidative stress. Fermented papaya preparation® (FPP®) has been shown to have an antioxidative effect and is postulated to reduce the oxidative stress on RBC. Obje
Externí odkaz:
https://doaj.org/article/9f3c2c80bf1c4ad3b8785ff5ee62ec34
Autor:
Adams, David R., van Karnebeek, Clara D.M., Agulló, Sergi Beltran, Faùndes, Víctor, Jamuar, Saumya Shekhar, Lynch, Sally Ann, Pintos-Morell, Guillem, Puri, Ratna Dua, Shai, Ruty, Steward, Charles A., Tumiene, Biruté, Verloes, Alain
Publikováno v:
In European Journal of Medical Genetics August 2024 70