| Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study E Elkaim, B Neven, J Bruneau, K Mitsui-Sekinaka, A Stanislas, L Heurtier, ... Journal of Allergy and Clinical Immunology 138 (1), 210-218. e9, 2016 | 426 | 2016 |
| Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ... Nature genetics 46 (2), 188-193, 2014 | 377 | 2014 |
| Null mutations in LTBP2 cause primary congenital glaucoma M Ali, M McKibbin, A Booth, DA Parry, P Jain, SA Riazuddin, ... The American Journal of Human Genetics 84 (5), 664-671, 2009 | 336 | 2009 |
| Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation SL Masters, V Lagou, I Jéru, PJ Baker, L Van Eyck, DA Parry, D Lawless, ... Science translational medicine 8 (332), 332ra45-332ra45, 2016 | 302 | 2016 |
| Mutations in TJP2 cause progressive cholestatic liver disease M Sambrotta, S Strautnieks, E Papouli, P Rushton, BE Clark, DA Parry, ... Nature genetics 46 (4), 326-328, 2014 | 300 | 2014 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 246 | 2015 |
| Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte DA Parry, CV Logan, BE Hayward, M Shires, H Landolsi, C Diggle, I Carr, ... The American Journal of Human Genetics 89 (3), 451-458, 2011 | 246 | 2011 |
| 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 |
| Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta DA Parry, AJ Mighell, W El-Sayed, RC Shore, IK Jalili, H Dollfus, ... The american journal of human genetics 84 (2), 266-273, 2009 | 187 | 2009 |
| Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 182 | 2019 |
| Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta W El-Sayed, DA Parry, RC Shore, M Ahmed, H Jafri, Y Rashid, ... The American Journal of Human Genetics 85 (5), 699-705, 2009 | 175 | 2009 |
| Characterizing the morbid genome of ciliopathies R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Genome biology 17, 1-11, 2016 | 150 | 2016 |
| The role of primary cilia in the development and disease of the retina G Wheway, DA Parry, CA Johnson Organogenesis 10 (1), 69-85, 2014 | 145 | 2014 |
| De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome GM Mirzaa, DA Parry, AE Fry, KA Giamanco, J Schwartzentruber, ... Nature genetics 46 (5), 510-515, 2014 | 142 | 2014 |
| Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions P Heyn, CV Logan, A Fluteau, RC Challis, T Auchynnikava, CA Martin, ... Nature genetics 51 (1), 96-105, 2019 | 136 | 2019 |
| 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 | 136 | 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 | 131 | 2013 |
| 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 | 115 | 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 | 112 | 2013 |
| Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) CV Logan, B Lucke, C Pottinger, ZA Abdelhamed, DA Parry, ... Nature genetics 43 (12), 1189-1192, 2011 | 111 | 2011 |
