Anna de Burca

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

Cayetano Pleguezuelos‐Manzano, Jens Puschhof, Axel Rosendahl Huber et al. · Nature · 2020 · 1.2K citations · Full text

Medicine, Genetics, Oncology +16

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Antonio Rueda Martin, Eleanor Williams, Rebecca E. Foulger et al. · Nature Genetics · 2019 · 594 citations

Life Sciences, Genetics, Molecular Genetics +8

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou, Gene Ching Chiek Koh, Arjun S. Nanda et al. · Nature Cancer · 2021 · 165 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall et al. · Nature Communications · 2020 · 129 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Ramita Dewan, Ruth Chia, Jinhui Ding et al. · Neuron · 2020 · 83 citations · Full text

Life Sciences, Molecular Genetics, Neurology +13