Science
Scientific highlights
Scientific highlights
We used Gabriele-de Vries syndrome (https://www.omim.org/entry/617557) patient-derived iPSCs to study 2D and 3D clinically-relevant cell types to understand why YY1 haploinsufficiency causes its neurological features! Here you can find the pre-print: https://www.biorxiv.org/content/10.1101/2024.02.16.580337v2
We used Gabriele-de Vries syndrome (https://www.omim.org/entry/617557) patient-derived iPSCs to study 2D and 3D clinically-relevant cell types to understand why YY1 haploinsufficiency causes its neurological features! Here you can find the pre-print: https://www.biorxiv.org/content/10.1101/2024.02.16.580337v2
We used Super-resolution live cell imaging and genome engineering to reveal that CTCF chromatin loops are rare and dynamic: https://www.science.org/doi/abs/10.1126/science.abn6583
We used Super-resolution live cell imaging and genome engineering to reveal that CTCF chromatin loops are rare and dynamic: https://www.science.org/doi/abs/10.1126/science.abn6583
We reviewed the genome engineering, imaging, and data analysis strategies required to identify the mechanism of Enhancer-promoter interaction: https://www.sciencedirect.com/science/article/pii/S0955067420301526
We reviewed the genome engineering, imaging, and data analysis strategies required to identify the mechanism of Enhancer-promoter interaction: https://www.sciencedirect.com/science/article/pii/S0955067420301526
We discovered that YY1 mutations cause a neurodevelopmental disorder, later named Gabriele-de Vries syndrome (GADEVS). https://www.sciencedirect.com/science/article/pii/S0002929717301933
We discovered that YY1 mutations cause a neurodevelopmental disorder, later named Gabriele-de Vries syndrome (GADEVS). https://www.sciencedirect.com/science/article/pii/S0002929717301933
We summarized neurodevelopmental syndromes caused by mutations in epigenetic regulators and put in context each molecular function and role in the epigenetics of the mutated genes, to suggest convergent pathways responsible for similar phenotypes. https://www.sciencedirect.com/science/article/pii/S0278584617305389
We summarized neurodevelopmental syndromes caused by mutations in epigenetic regulators and put in context each molecular function and role in the epigenetics of the mutated genes, to suggest convergent pathways responsible for similar phenotypes. https://www.sciencedirect.com/science/article/pii/S0278584617305389
