Biochemical and genotoxic effects in the vicinity of a pulp mill discharge PTS Wong, YK Chau, N Ali, DM Whittle Environmental Toxicology and Water Quality 9 (1), 59-70, 1994 | 22 | 1994 |
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy HH Wong, SH Seet, M Maier, A Gurel, RM Traspas, C Lee, S Zhang, ... The American Journal of Human Genetics 108 (7), 1301-1317, 2021 | 12 | 2021 |
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome? AL Koh, C Bonnard, JY Lim, WK Liew, KC Thoon, T Thomas, NAB Ali, ... American Journal of Medical Genetics Part A 182 (9), 2010-2020, 2020 | 12 | 2020 |
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis R Moreno Traspas, TS Teoh, PM Wong, M Maier, CY Chia, K Lay, NA Ali, ... Nature genetics 54 (8), 1214-1226, 2022 | 8 | 2022 |
Corrigendum to: Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?(American Journal of Medical Genetics Part A,(2020), 182, 9,(2010-2020 … AL Koh, C Bonnard, NAB Ali, B Reversade, S Jamuar American Journal of Medical Genetics, Part A 188 (1), 2022 | | 2022 |
Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish HH Wong, SH Seet, M Maier, RM Traspas, C Lee, Z Shan, AYT Loh, ... medRxiv, 2021.03. 31.21253863, 2021 | | 2021 |