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Patrick Joseph Short
Patrick Joseph Short
Verified email at sanger.ac.uk
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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
3862020
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
3702020
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
2572018
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
174*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
1432012
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
762019
Contribution of retrotransposition to developmental disorders
EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ...
Nature Communications 10 (1), 4630, 2019
612019
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
532015
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
452019
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
432022
Deciphering Developmental Disorders Study
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Evidence for 28, 757-762, 2020
242020
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
162020
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
102023
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
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
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
42023
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, 2023
22023
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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Articles 1–20