Sylvia Pei Rong Kam
8PUBLICATIONS
18CO-AUTHORS
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Publications (8)
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|Aug 26, 2025
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS.Harshini Hariram, Khadijah Rafi'ee, Jiin Ying Lim
|Aug 14, 2025
Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy.Genevieve Villablanca Llanora, Sylvia Pei Rong Kam, Kenneth Tou En Chang
|Mar 21, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.Jane Andrea Lieviant, Choi Mun Chan, Yasmin Bylstra
|Sep 26, 2020
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.Heming Wei, Angeline Lai, Ee Shien Tan
|Aug 22, 2020
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.Neha S Bhatia, Jiin Ying Lim, Carine Bonnard
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Frequent Collaborators
3 joint publications
Ene-Choo Tan
1 joint publications
Yasmin Bylstra
1 joint publications
Bin Tean Teh
1 joint publications
Stuart A Cook
1 joint publications
Neha S Bhatia
1 joint publications
Poh San Lai
1 joint publications
Mark Jean Aan Koh
1 joint publications
Terrence Thomas
1 joint publications
Jane Andrea Lieviant
1 joint publications
Beau James Fenner