Patrick Short

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo mutations in regulatory elements in neurodevelopmental disorders

Patrick Short, Jeremy F. McRae, Giuseppe Gallone et al. · Nature · 2018 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre et al. · Science · 2018 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed

Argyris Papantonis, Takahide Kohro, Sabyasachi Baboo et al. · The EMBO Journal · 2012 · 146 citations · Full text

Life Sciences, Immunology, Molecular Biology +16