Sofie Metsu

Multidisciplinary molecular tumour board: a tool to improve clinical practice and selection accrual for clinical trials in patients with cancer

Christian Rolfo, Paolo Manca, Roberto Salgado et al. · ESMO Open · 2018 · 105 citations · Full text

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

Paras Garg, Bharati Jadhav, Oscar L. Rodriguez et al. · The American Journal of Human Genetics · 2020 · 61 citations · Full text

Genome-wide Association Study, Allelic Variant, Rare Epigenetic Variation +8

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Sofie Metsu, Liesbeth Rooms, Jacqueline K. Rainger et al. · PLoS Genetics · 2014 · 53 citations · Full text

A CGG-Repeat Expansion Mutation in<i>ZNF713</i>Causes FRA7A: Association with Autistic Spectrum Disorder in two Families

Sofie Metsu, Jacqueline K. Rainger, Kim Debacker et al. · Human Mutation · 2014 · 37 citations

Rapid clinical mutational testing of <i>KRAS</i>, <i>BRAF</i> and <i>EGFR</i>: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing

Matthias Van Haele, Sara Vander Borght, An Ceulemans et al. · Journal of Clinical Pathology · 2019 · 36 citations