| A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect JA Pater, T Benteau, A Griffin, C Penney, SG Stanton, S Predham, ... Human Genetics 136 (1), 107-118, 2017 | 21 | 2017 |
| Integrin linked kinase regulates syncytialization of BeWo trophoblast cells TM Butler, JA Pater, DJ MacPhee Biology of Reproduction 96 (3), 673-685, 2017 | 17 | 2017 |
| The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate JS Green, DD O’Rielly, JA Pater, J Houston, H Rajabi, D Galutira, ... European Journal of Human Genetics 28 (7), 925-937, 2020 | 14 | 2020 |
| Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer ME Tesch, JA Pater, G Vandekerkhove, G Wang, K Binnington, AI So, ... NPJ genomic medicine 5 (1), 12, 2020 | 14 | 2020 |
| Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss JA Pater, J Green, DD O’Rielly, A Griffin, J Squires, T Burt, S Fernandez, ... BMC medical genetics 20, 1-9, 2019 | 14 | 2019 |
| A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene N Abdelfatah, AA Mostafa, CR French, LP Doucette, C Penney, MB Lucas, ... Human Genetics, 1-15, 2022 | 10 | 2022 |
| Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid … JA Pater, C Penney, DD O’Rielly, A Griffin, L Kamal, Z Brownstein, B Vona, ... Human Genetics 141 (3), 431-444, 2022 | 8 | 2022 |
| A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect LM Dawson, KN Smith, S Werdyani, R Ndikumana, C Penney, LL Wiede, ... Molecular genetics & genomic medicine 8 (2), e1070, 2020 | 8 | 2020 |
| Mutation of foxl1 Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis A Hawkey-Noble, JA Pater, R Kollipara, M Fitzgerald, AS Maekawa, ... Genes 13 (7), 1107, 2022 | 4 | 2022 |
| Unraveling haplotype errors in the DFNA33 locus B Vona, S Regele, A Rad, N Strenzke, JA Pater, K Neumann, M Sturm, ... Frontiers in Genetics 14, 1214736, 2023 | | 2023 |
| Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene J Pater, C Penney, D O’Rielly, A Griffin, M Shohat, O Barel, CR French, ... | | 2021 |
| A Multi-omic approach to genetic hearing loss in the Newfoundland founder population JA Pater Memorial University of Newfoundland, 2019 | | 2019 |
| A splice mutation in ATP11A causes progressive sensorineural hearing loss and maps to the DFNA33 locus JA Pater, C Penney, A Griffin, N Abdelfatah, J Houston, D O’Rielly, ... American Society of Human Genetics 68th Annual Meeting, 2018 | | 2018 |
| Poly (ADP-ribose) polymerase-1 (PARP-1) induces human trophoblast syncytialization J Pater University of Saskatchewan, 2013 | | 2013 |
| Poly (ADP-ribose) polymerase-1 (PARP-1) induces trophoblast syncytialization J Pater, G Shah, D MacPhee Placenta 9 (34), A16, 2013 | | 2013 |
Terry-Lynn YoungProfessorVerified email at mun.ca
