Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders
Bylstra, Yasmin, Kuan, Jyn Ling, Lim, Weng Khong, Bhalshankar, Jaydutt Digambar, Teo, Jing Xian, Davila, Sonia, Te Teh, Bin an, Rozen, Steve, Tan, Ene-Choo, Liew, Wendy Kein Meng, Yeo, Khung Keong, Tan, Patrick, Saw, Seang Mei, Cheng, Ching-Yu, Cook, Stuart, Foo, Roger, Jamuar, Saumya Shekhar
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
Get full text
Journal Article
Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort
Nazeha, Nuraini, Koh, Ai Ling, Kam, Sylvia, Lim, Jiin Ying, Goh, Denise Li Meng, Jamuar, Saumya Shekhar, Graves, Nicholas
Published in American journal of medical genetics. Part A (01.12.2022)
Published in American journal of medical genetics. Part A (01.12.2022)
Get full text
Journal Article
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease
Yap, Jia Ying Celeste, Lim, Jiin Ying, Bhatia, Anju, Tan, Vic Khi June, Koo, Stephanie, Nishimura, Gen, Moosa, Shahida, Koh, Ai Ling, Tan, Ene Choo, Fong, Nikki, Jamuar, Saumya Shekhar
Published in American journal of medical genetics. Part A (01.02.2024)
Published in American journal of medical genetics. Part A (01.02.2024)
Get full text
Journal Article
Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
Moynihan, Daniel, Monaco, Sean, Ting, Teck Wah, Narasimhalu, Kaavya, Hsieh, Jenny, Kam, Sylvia, Lim, Jiin Ying, Lim, Weng Khong, Davila, Sonia, Bylstra, Yasmin, Balakrishnan, Iswaree Devi, Heng, Mark, Chia, Elian, Yeo, Khung Keong, Goh, Bee Keow, Gupta, Ritu, Tan, Tele, Baynam, Gareth, Jamuar, Saumya Shekhar
Published in Scientific reports (02.05.2024)
Published in Scientific reports (02.05.2024)
Get full text
Journal Article
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
Wei, Heming, Lai, Angeline, Tan, Ee Shien, Koh, Mark Jean Aan, Ng, Ivy, Ting, Teck Wah, Thomas, Terrence, Cham, Breana, Lim, Jiin Ying, Kam, Sylvia, Goh, Chew Yin Jasmine, Lin, Grace, Brett, Maggie, Chan, Derrick, Jamuar, Saumya Shekhar, Tan, Ene-Choo
Published in Archives of disease in childhood (01.01.2021)
Published in Archives of disease in childhood (01.01.2021)
Get full text
Journal Article
Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases
Moynihan, Daniel, Monaco, Sean, Ting, Teck Wah, Narasimhalu, Kaavya, Hsieh, Jenny, Kam, Sylvia, Lim, Jiin Ying, Lim, Weng Khong, Davila, Sonia, Bylstra, Yasmin, Balakrishnan, Iswaree Devi, Heng, Mark, Chia, Elian, Yeo, Khung Keong, Goh, Bee Keow, Gupta, Ritu, Tan, Tele, Baynam, Gareth, Jamuar, Saumya Shekhar
Published in Scientific reports (01.03.2024)
Published in Scientific reports (01.03.2024)
Get full text
Journal Article
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
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
Published in JAMA network open (25.10.2023)
Published in JAMA network open (25.10.2023)
Get full text
Journal Article
Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature
Dong, Xiaoao, Png, Nicholas C. Y., Fortier, Marielle V., Lim, Jiin Ying, Wong, Kenneth P. L., Choo, Jonathan T. L., Tan, Ene Choo, Jamuar, Saumya Shekhar
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
Get full text
Journal Article
Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases
Fong, Nikki, Wei, Heming, Lim, Jiin Ying, Goh, Chew‐Yin Jasmine, Kam, Sylvia, Jamuar, Saumya Shekhar, Tan, Ene‐Choo
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
Get full text
Journal Article
Editorial: AI in Healthcare: From Data to Intelligence
Hulsen, Tim, Petkovic, Milan, Varga, Orsolya Edit, Jamuar, Saumya Shekhar
Published in Frontiers in artificial intelligence (03.05.2022)
Published in Frontiers in artificial intelligence (03.05.2022)
Get full text
Journal Article
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
Bhatia, Neha S, Lim, Jiin Ying, Bonnard, Carine, Kuan, Jyn-Ling, Brett, Maggie, Wei, Heming, Cham, Breana, Chin, Huilin, Bosso-Lefevre, Celia, Dharuman, Perumal, Escande-Beillard, Nathalie, Devasia, Arun George, Goh, Chew Yin Jasmine, Kam, Sylvia, Liew, Wendy Kein-Meng, Liew, Woei Kang, Lin, Grace, Jain, Kanika, Ng, Alvin Yu-Jin, Subramanian, Deepa, Xie, Min, Tan, Yuen-Ming, Tawari, Nilesh R, Tiang, Zenia, Ting, Teck Wah, Tohari, Sumanty, Tong, Cheuk Ka, Lezhava, Alexander, Ng, Sarah B, Law, Hai Yang, Venkatesh, Byrappa, Tomar, Swati, Sethi, Raman, Tan, Grace, Shanmugasundaram, Arthi, Goh, Denise Li-Meng, Lai, Poh San, Lai, Angeline, Tan, Ee Shien, Ng, Ivy, Reversades, Bruno, Tan, Ene Choo, Foo, Roger, Jamuar, Saumya Shekhar
Published in Archives of disease in childhood (01.01.2021)
Published in Archives of disease in childhood (01.01.2021)
Get full text
Journal Article
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?
Koh, Ai Ling, Bonnard, Carine, Lim, Jiin Ying, Liew, Woei Kang, Thoon, Koh Cheng, Thomas, Terrence, Ali, Nur Ain Binte, Ng, Alvin Yu Jin, Tohari, Sumanty, Phua, Kong Boo, Venkatesh, Byrappa, Reversade, Bruno, Jamuar, Saumya Shekhar
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
Get full text
Journal Article
Family history assessment significantly enhances delivery of precision medicine in the genomics era
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
Published in Genome medicine (07.01.2021)
Published in Genome medicine (07.01.2021)
Get full text
Journal Article
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW
Ong, Rina Yue Ling, Chan, Su-Wan Bianca, Chew, Siu Jun, Liew, Woei Kang, Thoon, Koh Cheng, Chong, Chia-Yin, Yung, Chee Fu, Sng, Li-Hwei, Tan, Ah Moy, Bhattacharyya, Rajat, Jamuar, Saumya Shekhar, Lim, Jiin Ying, Li, Jiahui, Nadua, Karen Donceras, Kam, Kai-qian, Tan, Natalie Woon-Hui
Published in International journal of infectious diseases (01.08.2020)
Published in International journal of infectious diseases (01.08.2020)
Get full text
Journal Article
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant
Wei, Heming, Krishnappa, Janardhan, Lin, Grace, Kavalloor, Nirmal, Lim, Jiin Ying, Goh, Chew‐Yin Jasmine, Jamuar, Saumya Shekhar, Thomas, Terrence, Tan, Ene Choo
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
Get full text
Journal Article
Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders
Bylstra, Yasmin, Kuan, Jyn Ling, Lim, Weng Khong, Bhalshankar, Jaydutt Digambar, Teo, Jing Xian, Davila, Sonia, Te Teh, Bin an, Rozen, Steve, Tan, Ene-Choo, Liew, Wendy Kein Meng, Yeo, Khung Keong, Tan, Patrick, Saw, Seang Mei, Cheng, Ching-Yu, Cook, Stuart, Foo, Roger, Jamuar, Saumya Shekhar
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
Get full text
Journal Article
Clinical free text to HPO codes
Stinton, Gabrielle, Lieviant, Jane A., Kam, Sylvia, Lim, Jiin Ying, Goh, Jasmine Chew-Yin, Lim, Weng Khong, Baynam, Gareth, Tan, Tele, Pham, Duc-Son, Jamuar, Saumya Shekhar
Published in Rare (2023)
Published in Rare (2023)
Get full text
Journal Article
Feeding difficulty in an infant: an unusual cause
Qadri, Syeda Kashfi, Logarajah, Veena, Nah, Shireen Anne, Jamuar, Saumya Shekhar
Published in BMJ case reports (23.08.2018)
Published in BMJ case reports (23.08.2018)
Get full text
Journal Article
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature
Chong, Jin Ho, Jamuar, Saumya Shekhar, Ong, Christina, Thoon, Koh Cheng, Tan, Ee Shien, Lai, Angeline, Aan, Mark Koh Jean, Tan, Wilson Lek Wen, Foo, Roger, Tan, Ene Choo, Lau, Yu-Lung, Liew, Woei Kang
Published in European journal of pediatrics (01.10.2015)
Published in European journal of pediatrics (01.10.2015)
Get full text
Journal Article