Concepedia

Patrick Short

PS

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Publications

14

Citations

1.9K

H-Index

13

Active since

1955

Affiliations

Wellcome Sanger Institute(Current)

Cambridge University Hospitals NHS Foundation Trust

University of Edinburgh

University of Southampton

Institute of Genetics and Cancer

Patrick Short is an author at Wellcome Sanger Institute specializing in medicine, genetics, and functional genomics.

ORCID

Top concepts

Publications per year

1955–2023

14

Publications

14

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

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 633 citations · Full text

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De novo mutations in regulatory elements in neurodevelopmental disorders

Patrick Short, Jeremy F. McRae, Giuseppe Gallone et al. · Nature · 2018 · 302 citations · Full text

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Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre et al. · Science · 2018 · 214 citations · Full text

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 · 143 citations · Full text

The Probability Distribution of the Amplitude of a Constant Vector Plus a Rayleigh-Distributed Vector

K. Norton, Lewis Vogler, W Mansfield et al. · Proceedings of the IRE · 1955 · 113 citations

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