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 | 92 | 2015 |
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 | 88 | 2014 |
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 | 67 | 2013 |
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 | 62 | 2023 |
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 | 33 | 2019 |
Stuttering and the social model C Constantino, P Campbell, S Simpson Journal of communication disorders 96, 106200, 2022 | 31 | 2022 |
Stammering pride and prejudice P Campbell, C Constantino, S Simpson J & R Press Limited, 2019 | 28 | 2019 |
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 | 6 | 2022 |
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 |