| Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome KA Williamson, AM Hever, J Rainger, RC Rogers, A Magee, Z Fiedler, ... Human molecular genetics 15 (9), 1413-1422, 2006 | 269 | 2006 |
| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 165 | 2017 |
| Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects KA Williamson, J Rainger, JAB Floyd, M Ansari, A Meynert, KV Aldridge, ... The American Journal of Human Genetics 94 (2), 295-302, 2014 | 105 | 2014 |
| Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice J Rainger, E van Beusekom, JK Ramsay, L McKie, L Al-Gazali, R Pallotta, ... PLoS genetics 7 (7), e1002114, 2011 | 98 | 2011 |
| A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect M McEntagart, KA Williamson, JK Rainger, A Wheeler, A Seawright, ... The American Journal of Human Genetics 98 (5), 981-992, 2016 | 91 | 2016 |
| Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations J Rainger, D Pehlivan, S Johansson, H Bengani, L Sanchez-Pulido, ... The American Journal of Human Genetics 94 (6), 915-923, 2014 | 89 | 2014 |
| Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence JK Rainger, S Bhatia, H Bengani, P Gautier, J Rainger, M Pearson, ... Human Molecular Genetics 23 (10), 2569-2579, 2014 | 74 | 2014 |
| Miller (Genée–Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH J Rainger, H Bengani, L Campbell, E Anderson, K Sokhi, W Lam, A Riess, ... Human molecular genetics 21 (18), 3969-3983, 2012 | 62 | 2012 |
| A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma C Liu, SA Widen, KA Williamson, R Ratnapriya, C Gerth-Kahlert, ... Human molecular genetics 25 (7), 1382-1391, 2016 | 46 | 2016 |
| The transcriptional signature associated with human motile cilia A Patir, AM Fraser, MW Barnett, L McTeir, J Rainger, MG Davey, ... Scientific reports 10 (1), 10814, 2020 | 38 | 2020 |
| Illuminating the chicken model through genetic modification MG Davey, A Balic, J Rainger, HM Sang, MJ McGrew International Journal of Developmental Biology 62 (1-2-3), 257-264, 2018 | 35 | 2018 |
| A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation SH Cross, DG Macalinao, L McKie, L Rose, AL Kearney, J Rainger, ... PLoS genetics 10 (5), e1004359, 2014 | 33 | 2014 |
| A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma J Rainger, KA Williamson, DC Soares, J Truch, D Kurian, ... Human mutation 38 (8), 942-946, 2017 | 28 | 2017 |
| Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion H Hardy, JGD Prendergast, A Patel, S Dutta, V Trejo-Reveles, H Kroeger, ... Elife 8, e43877, 2019 | 27 | 2019 |
| Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed CA Pugh, LL Farrell, AJ Carlisle, SJ Bush, A Ewing, V Trejo-Reveles, ... G3: Genes, Genomes, Genetics 9 (3), 943-954, 2019 | 17 | 2019 |
| Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure BHC Chan, M Moosajee, J Rainger Frontiers in cell and developmental biology 8, 620774, 2021 | 13 | 2021 |
| An analysis of anterior segment development in the chicken eye V Trejo-Reveles, L McTeir, K Summers, J Rainger Mechanisms of Development 150, 42-49, 2018 | 13 | 2018 |
| Consortium UK, Fitzpatrick DR. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects KA Williamson, J Rainger, JA Floyd, M Ansari, A Meynert, KV Aldridge, ... Am J Hum Genet 94 (2), 295-302, 2014 | 12 | 2014 |
| A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse J Rainger, M Keighren, DR Keene, NL Charbonneau, JK Rainger, ... PLoS genetics 9 (12), e1003998, 2013 | 12 | 2013 |
| Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species V Trejo-Reveles, N Owen, BH Ching Chan, M Toms, JJ Schoenebeck, ... Biomolecules 13 (2), 293, 2023 | 2 | 2023 |
