Jack Humphrey

Annotation-free quantification of RNA splicing using LeafCutter

Yang Li, David A. Knowles, Jack Humphrey et al. · Nature Genetics · 2017 · 849 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +10

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text

Life Sciences, Neurology, Neurogenetics +9

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss et al. · Nature · 2022 · 514 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

Towfique Raj, Yang Li, Garrett Wong et al. · Nature Genetics · 2018 · 456 citations

Life Sciences, Molecular Biology, Neuroscience +17

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

Mercedes Prudencio, Jack Humphrey, Sarah Pickles et al. · Journal of Clinical Investigation · 2020 · 257 citations · Full text

Life Sciences, Neurology, Neuroscience +12