Justin A. Pater
Affiliations: | Pediatric Oncology | Dana-Farber Cancer Institute and Harvard Medical School, USA | |
| Sanofi Genzyme |
Area:
Cancer geneticsGoogle:
"Justin Pater"Mean distance: (not calculated yet)
Parents
Sign in to add mentor| Terry-Lynn Young | grad student | 2013-2018 | MUN |
| Thomas Look | post-doc | 2018-2020 | Dana-Farber Cancer Institute and Harvard Medical School |
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Publications
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| Vona B, Regele S, Rad A, et al. (2023) Unraveling haplotype errors in the DFNA33 locus. Frontiers in Genetics. 14: 1214736 |
| Hawkey-Noble A, Pater JA, Kollipara R, et al. (2022) Mutation of Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis. Genes. 13 |
| Pater JA, Penney C, O'Rielly DD, et al. (2022) Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Human Genetics |
| Abdelfatah N, Mostafa AA, French CR, et al. (2021) A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene. Human Genetics |
| Green JS, O'Rielly DD, Pater JA, et al. (2020) The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate. European Journal of Human Genetics : Ejhg |
| Tesch ME, Pater JA, Vandekerkhove G, et al. (2020) Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer. Npj Genomic Medicine. 5: 12 |
| Dawson LM, Smith KN, Werdyani S, et al. (2019) A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect. Molecular Genetics & Genomic Medicine. e1070 |
| Pater JA, Green J, O'Rielly DD, et al. (2019) Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. Bmc Medical Genetics. 20: 68 |
| Pater JA, Benteau T, Griffin A, et al. (2016) A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. Human Genetics |