Grace Yoon

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

Distinct Regulatory Programs Control the Latent Regenerative Potential of Dermal Fibroblasts during Wound Healing

Sepideh Abbasi, Sarthak Sinha, Elodie Labit et al. · Cell stem cell · 2020 · 188 citations · Full text

Regenerative Medicine, Tissue Engineering, Latent Regenerative Potential +12

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Gregory Costain, Rebekah Jobling, Susan Walker et al. · European Journal of Human Genetics · 2018 · 126 citations · Full text

Genetic Testing, Sequencing, Diagnostic Advantage +13

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 98 citations · Full text

Developmental Anomaly, Pathogenic Sptbn1 Variants, Brain Development +7

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Sébastien Chénier, Grace Yoon, Bob Argiropoulos et al. · Journal of Neurodevelopmental Disorders · 2014 · 93 citations · Full text