David A. Knowles

Predicting Splicing from Primary Sequence with Deep Learning

Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F. McRae et al. · Cell · 2019 · 2.7K citations · Full text

Sequence Modelling, Engineering, Genetics +7

Annotation-free quantification of RNA splicing using LeafCutter

Yang Li, David A. Knowles, Jack Humphrey et al. · Nature Genetics · 2017 · 805 citations · Full text

Annotation-free Quantification, Functional Genomics, Genetics +7

Mapping cis- and trans-regulatory effects across multiple tissues in twins

Elin Grundberg, Kerrin S. Small, Åsa K. Hedman et al. · Nature Genetics · 2012 · 778 citations · Full text

Transcriptional Regulation, Systems Biology, Developmental Biology +9

RNA splicing is a primary link between genetic variation and disease

Yang Li, Bryce van de Geijn, Anil Raj et al. · Science · 2016 · 744 citations · Full text

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

Lindsay A. Becker, Brenda Huang, Gregor Bieri et al. · Nature · 2017 · 562 citations · Full text

Lifespan Extension, Knockout Mouse, Molecular Neuroscience +11