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Patrick Joseph Short
Patrick Joseph Short
Verified email at sanger.ac.uk
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Cited by
Cited by
Year
Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
4632020
Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Nature 586 (7831), 757-762, 2020
4592020
De novo mutations in regulatory elements in neurodevelopmental disorders
PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ...
Nature 555 (7698), 611-616, 2018
2712018
Quantifying the contribution of recessive coding variation to developmental disorders
HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ...
Science 362 (6419), 1161-1164, 2018
192*2018
TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed
A Papantonis, T Kohro, S Baboo, JD Larkin, B Deng, P Short, S Tsutsumi, ...
The EMBO journal 31 (23), 4404-4414, 2012
1482012
Pathogenicity and selective constraint on variation near splice sites
J Lord, G Gallone, PJ Short, JF McRae, H Ironfield, EH Wynn, SS Gerety, ...
Genome research 29 (2), 159-170, 2019
832019
Contribution of retrotransposition to developmental disorders
EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ...
Nature Communications 10 (1), 4630, 2019
652019
Genetic and chemotherapeutic influences on germline hypermutation
J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, T Coorens, ...
Nature 605 (7910), 503-508, 2022
642022
Towards programming immune tolerance through geometric manipulation of phosphatidylserine
RA Roberts, TK Eitas, JD Byrne, BM Johnson, PJ Short, KP McKinnon, ...
Biomaterials 72, 1-10, 2015
582015
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
biorxiv, 797787, 2019
462019
Deciphering Developmental Disorders Study
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Evidence for 28, 757-762, 2020
292020
Genome-wide association study of long COVID
V Lammi, T Nakanishi, SE Jones, SJ Andrews, J Karjalainen, B Cortés, ...
medRxiv, 2023.06. 29.23292056, 2023
222023
Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders
DT Gerrard, AA Berry, RE Jennings, MJ Birket, P Zarrineh, MG Garstang, ...
Nature Communications 11 (1), 3920, 2020
212020
Genetic and chemotherapeutic causes of germline hypermutation
J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, T Coorens, ...
bioRxiv, 2021.06. 01.446180, 2021
9*2021
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
E Lenassi, A Carvalho, A Thormann, L Abrahams, G Arno, T Fletcher, ...
Journal of Medical Genetics 60 (8), 810-818, 2023
52023
De novo mutations in regulatory elements cause neurodevelopmental disorders
PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ...
bioRxiv, 112896, 2017
52017
The contribution of non-canonical splicing mutations to severe dominant developmental disorders
J Lord, G Gallone, PJ Short, JF McRae, H Ironfield, EH Wynn, SS Gerety, ...
bioRxiv, 256636, 2018
42018
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
T Kmochová, KO Kidd, A Orr, A Hnízda, H Hartmannová, K Hodaňová, ...
Kidney international 105 (4), 799-811, 2024
32024
Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles
HC Martin
bioRxiv, 2017
22017
Identifying and characterising germline hypermutators
J Kaplanis, P Danecek, E Prigmore, R Rahbari, P Short, J Korbel, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 712-712, 2020
12020
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