| Amelogenesis imperfecta; genes, proteins, and pathways CEL Smith, JA Poulter, A Antanaviciute, J Kirkham, SJ Brookes, ... Frontiers in physiology 8, 435, 2017 | 300 | 2017 |
| Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta JA Poulter, G Murillo, SJ Brookes, CEL Smith, DA Parry, S Silva, ... Human molecular genetics 23 (20), 5317-5324, 2014 | 139 | 2014 |
| Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6 I Ratbi, KD Falkenberg, M Sommen, N Al-Sheqaih, S Guaoua, ... The American Journal of Human Genetics 97 (4), 535-545, 2015 | 137 | 2015 |
| Structural variants create new topological-associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa SE de Bruijn, A Fiorentino, D Ottaviani, S Fanucchi, US Melo, ... The American Journal of Human Genetics 107 (5), 802-814, 2020 | 102 | 2020 |
| Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations AC Acevedo, JA Poulter, PG Alves, CL de Lima, LC Castro, PM Yamaguti, ... BMC medical genetics 16, 1-11, 2015 | 86 | 2015 |
| Primary cilia, ciliogenesis and the actin cytoskeleton: a little less resorption, a little more actin please CEL Smith, AVR Lake, CA Johnson Frontiers in cell and developmental biology 8, 622822, 2020 | 84 | 2020 |
| Mutations in the pH-sensing G-protein-coupled receptor GPR68 cause amelogenesis imperfecta DA Parry, CEL Smith, W El-Sayed, JA Poulter, RC Shore, CV Logan, ... The American Journal of Human Genetics 99 (4), 984-990, 2016 | 80 | 2016 |
| A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta JA Poulter, SJ Brookes, RC Shore, CEL Smith, L Abi Farraj, J Kirkham, ... Human molecular genetics 23 (8), 2189-2197, 2014 | 66 | 2014 |
| Spectrum of PEX1 and PEX6 variants in Heimler syndrome CEL Smith, JA Poulter, AV Levin, JE Capasso, S Price, T Ben-Yosef, ... European Journal of Human Genetics 24 (11), 1565-1571, 2016 | 60 | 2016 |
| Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta CEL Smith, G Murillo, SJ Brookes, JA Poulter, S Silva, J Kirkham, ... Human molecular genetics 25 (16), 3578-3587, 2016 | 60 | 2016 |
| Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome LLE Whitehouse, CEL Smith, JA Poulter, CJ Brown, A Patel, T Lamb, ... Oral diseases 25 (1), 182-191, 2019 | 30 | 2019 |
| Loss-of-function mutations in the CFH gene affecting alternatively encoded factor H-like 1 protein cause dominant early-onset macular drusen RL Taylor, JA Poulter, SM Downes, M McKibbin, KN Khan, CF Inglehearn, ... Ophthalmology 126 (10), 1410-1421, 2019 | 29 | 2019 |
| A fourth KLK4 mutation is associated with enamel hypomineralisation and structural abnormalities CEL Smith, J Kirkham, PF Day, F Soldani, JA Poulter, CF Inglehearn, ... Frontiers in physiology 8, 261253, 2017 | 29 | 2017 |
| Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress SJ Brookes, MJ Barron, CEL Smith, JA Poulter, AJ Mighell, CF Inglehearn, ... Human molecular genetics 26 (10), 1863-1876, 2017 | 29 | 2017 |
| A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta CEL Smith, LLE Whitehouse, JA Poulter, L Wilkinson Hewitt, F Nadat, ... Human molecular genetics 29 (9), 1417-1425, 2020 | 27 | 2020 |
| Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta CEL Smith, JA Poulter, SJ Brookes, G Murillo, S Silva, CJ Brown, A Patel, ... Journal of Dental Research 98 (6), 698-704, 2019 | 27 | 2019 |
| New missense variants in RELT causing hypomineralised amelogenesis imperfecta G Nikolopoulos, CEL Smith, SJ Brookes, ME El‐Asrag, CJ Brown, A Patel, ... Clinical genetics 97 (5), 688-695, 2020 | 25 | 2020 |
| Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta CEL Smith, LLE Whitehouse, JA Poulter, SJ Brookes, PF Day, F Soldani, ... European Journal of Human Genetics 25 (8), 1015-1019, 2017 | 24 | 2017 |
| Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa A Fiorentino, J Yu, G Arno, N Pontikos, S Halford, S Broadgate, ... Molecular Vision 24, 603, 2018 | 18 | 2018 |
| Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease S Van de Sompele, C Smith, M Karali, M Corton, K Van Schil, F Peelman, ... Genetics in Medicine 21 (6), 1319-1329, 2019 | 17 | 2019 |