Thanh Thao Nguyen Ly

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function

Alexandra D. Gurzau, Kelan Chen, Shifeng Xue et al. · Journal of Biological Chemistry · 2018 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Hui Hui Wong, Sze Hwee Seet, Michael Maier et al. · The American Journal of Human Genetics · 2021 · 23 citations · Full text

Life Sciences, Cell Biology, Genetics +14

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

Andrés Tapia del Fierro, Bianca den Hamer, Natalia Benetti et al. · Nature Communications · 2023 · 20 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S. Vijayakar et al. · Nature Communications · 2022 · 12 citations · Full text

Life Sciences, Developmental Biology, Genetics +17