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American Journal of Medical Genetics. Part A|October 6, 2023
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey diseaseJia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, et al.
Clinical Dysmorphology|October 22, 2023
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screeningThurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, et al.
Pediatric Cardiology|June 26, 2015
Left Ventricular Non-compaction: Is It Genetic?Teck Wah Ting, Saumya Shekhar Jamuar, Maggie Siewyan Brett, et al.
American Journal of Medical Genetics. Part A|July 14, 2020
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, et al.
European Journal of Medical Genetics|April 16, 2019
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literatureChun Yi Ting, Neha Singh Bhatia, Jiin Ying Lim, et al.
Archives of Disease in Childhood|September 26, 2020
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypesHeming Wei, Angeline Lai, Ee Shien Tan, et al.
Scientific Reports|February 29, 2024
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseasesDaniel Moynihan, Sean Monaco, Teck Wah Ting, et al.
Ebiomedicine|April 15, 2016
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?Saumya Shekhar Jamuar, Jyn Ling Kuan, Maggie Brett, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|June 5, 2020
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEWRina Yue Ling Ong, Su-Wan Bianca Chan, Siu Jun Chew, et al.
European Journal of Medical Genetics|April 2, 2018
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeCarine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, et al.
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