| Amelogenesis imperfecta; genes, proteins, and pathways CEL Smith, JA Poulter, A Antanaviciute, J Kirkham, SJ Brookes, ... Frontiers in physiology 8, 272026, 2017 | 261 | 2017 |
| Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy JA Poulter, M Ali, DF Gilmour, A Rice, H Kondo, K Hayashi, DA Mackey, ... The American Journal of Human Genetics 86 (2), 248-253, 2010 | 223 | 2010 |
| Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration RK Koenekoop, H Wang, J Majewski, X Wang, I Lopez, H Ren, Y Chen, ... Nature genetics 44 (9), 1035-1039, 2012 | 207 | 2012 |
| ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature RWJ Collin, K Nikopoulos, M Dona, C Gilissen, A Hoischen, FN Boonstra, ... Proceedings of the National Academy of Sciences 110 (24), 9856-9861, 2013 | 173 | 2013 |
| Novel somatic mutations in UBA1 as a cause of VEXAS syndrome JA Poulter, JC Collins, C Cargo, RM De Tute, P Evans, D Ospina Cardona, ... Blood, The Journal of the American Society of Hematology 137 (26), 3676-3681, 2021 | 145 | 2021 |
| 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 | 135 | 2014 |
| Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta DA Parry, JA Poulter, CV Logan, SJ Brookes, H Jafri, CH Ferguson, ... The American Journal of Human Genetics 92 (2), 307-312, 2013 | 130 | 2013 |
| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 129 | 2016 |
| 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 | 123 | 2015 |
| Neurodegenerative disease and the NLRP3 inflammasome JA Holbrook, HH Jarosz-Griffiths, E Caseley, S Lara-Reyna, JA Poulter, ... Frontiers in pharmacology 12, 643254, 2021 | 122 | 2021 |
| Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta DA Parry, SJ Brookes, CV Logan, JA Poulter, W El-Sayed, S Al-Bahlani, ... The American Journal of Human Genetics 91 (3), 565-571, 2012 | 114 | 2012 |
| Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations G Jaureguiberry, D la Dure-Molla, D Parry, M Quentric, N Himmerkus, ... Nephron Physiology 122 (1-2), 1-6, 2013 | 111 | 2013 |
| Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma K Khan, A Rudkin, DA Parry, KP Burdon, M McKibbin, CV Logan, ... The American Journal of Human Genetics 89 (3), 464-473, 2011 | 92 | 2011 |
| Defects in the cell signaling mediator β-catenin cause the retinal vascular condition FEVR ES Panagiotou, CS Soriano, JA Poulter, EC Lord, D Dzulova, H Kondo, ... The American Journal of Human Genetics 100 (6), 960-968, 2017 | 88 | 2017 |
| Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism JA Poulter, M Al-Araimi, I Conte, MM Van Genderen, E Sheridan, IM Carr, ... The American Journal of Human Genetics 93 (6), 1143-1150, 2013 | 86 | 2013 |
| 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), 8, 2015 | 85 | 2015 |
| Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR) JA Poulter, AE Davidson, M Ali, DF Gilmour, DA Parry, HA Mintz-Hittner, ... Investigative ophthalmology & visual science 53 (6), 2873-2879, 2012 | 81 | 2012 |
| Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects K Khan, CV Logan, M McKibbin, E Sheridan, NH Elçioglu, O Yenice, ... Human molecular genetics 21 (4), 776-783, 2012 | 78 | 2012 |
| Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta JA Poulter, W El-Sayed, RC Shore, J Kirkham, CF Inglehearn, AJ Mighell European Journal of Human Genetics 22 (1), 132-135, 2014 | 73 | 2014 |
| Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 70 | 2017 |
