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Patrick Campbell
Patrick Campbell
Unknown affiliation
Verified email at doctors.org.uk
Title
Cited by
Cited by
Year
Whole‐exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory
T Takeichi, L Liu, K Fong, L Ozoemena, JR McMillan, A Salam, ...
British Journal of Dermatology 172 (1), 94-100, 2015
922015
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR
P Campbell, PE Morton, T Takeichi, A Salam, N Roberts, LE Proudfoot, ...
Journal of Investigative Dermatology 134 (10), 2570-2578, 2014
882014
Impact of next generation sequencing on diagnostics in a genetic skin disease clinic
T Takeichi, A Nanda, L Liu, A Salam, P Campbell, K Fong, M Akiyama, ...
Experimental Dermatology 22 (12), 825-831, 2013
672013
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ...
New England Journal of Medicine 388 (17), 1559-1571, 2023
622023
Clinical and genetic variability in children with partial albinism
P Campbell, JM Ellingford, NRA Parry, T Fletcher, SC Ramsden, T Gale, ...
Scientific reports 9 (1), 16576, 2019
332019
Stuttering and the social model
C Constantino, P Campbell, S Simpson
Journal of communication disorders 96, 106200, 2022
312022
Stammering pride and prejudice
P Campbell, C Constantino, S Simpson
J & R Press Limited, 2019
282019
Optimising diagnostic yield in highly penetrant genomic disease
CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ...
medRxiv, 2022.07. 25.22278008, 2022
62022
Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions
QQ Huang, EM Wigdor, P Campbell, DS Malawsky, KE Samocha, ...
medRxiv, 2024.03. 05.24303772, 2024
2024
Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland
CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ...
New England Journal of Medicine, 2023
2023
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