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Human Genomics|June 17, 2015
Clinical application of next-generation sequencing for Mendelian diseasesSaumya Shekhar Jamuar, Ene-Choo TanSingapore Medical Journal|February 1, 2023
Therapeutics in paediatric genetic diseases: Current and future landscapeAi Ling Koh, Saumya Shekhar JamuarPlos Medicine|February 26, 2026
Reimagining care of people living with rare diseases with artificial intelligenceTudor Groza, Gareth Baynam, Saumya Shekhar JamuarBMJ Case Reports|August 25, 2018
Feeding difficulty in an infant: an unusual causeSyeda Kashfi Qadri, Veena Logarajah, Shireen Anne Nah, et al.European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry|August 19, 2025
Clinical insights into dental care for siblings with Jamuar syndrome: a rare genetic dual case reportRahul Bhandary, Saumya Shekhar Jamuar, Srikala Bhandary, et al.American Journal of Human Genetics|April 17, 2025
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use caseTudor Groza, Warittha Rayabsri, Dylan Gration, et al.JACC. Case Reports|December 18, 2024
Coinheritance of Hypertrophic and Arrhythmogenic Cardiomyopathy Variants in a Patient With Hypertrophic CardiomyopathyYi Siang Lee, Chee Jian Pua, Yasmin Bylstra, et al.American Journal of Medical Genetics. Part A|September 26, 2022
Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohortNuraini Nazeha, Ai Ling Koh, Sylvia Kam, et al.Journal of Paediatrics and Child Health|September 10, 2011
Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemiaSaumya Shekhar Jamuar, Angeline Hwei Meeng Lai, Ah Moy Tan, et al.Molecular Genetics & Genomic Medicine|February 21, 2019
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndromeAi-Ling Koh, Ee-Shien Tan, Maggie S Brett, et al.Pageof 5