| Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness A Vincent, I Audo, E Tavares, JT Maynes, A Tumber, T Wright, S Li, ... The American Journal of Human Genetics 98 (5), 1011-1019, 2016 | 53 | 2016 |
| Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis A Vincent, J Ng, C Gerth-Kahlert, E Tavares, JT Maynes, T Wright, ... Investigative ophthalmology & visual science 57 (6), 2637-2646, 2016 | 46 | 2016 |
| Attentional demands influence vocal compensations to pitch errors heard in auditory feedback AK Tumber, NE Scheerer, JA Jones PLoS One 9 (10), e109968, 2014 | 38 | 2014 |
| Evaluation of light-and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data H Liu, X Ji, S Dhaliwal, SN Rahman, M McFarlane, A Tumber, J Locke, ... Documenta Ophthalmologica 137, 169-181, 2018 | 31 | 2018 |
| Attentional demands modulate sensorimotor learning induced by persistent exposure to changes in auditory feedback NE Scheerer, AK Tumber, JA Jones Journal of Neurophysiology 115 (2), 826-832, 2016 | 26 | 2016 |
| Phenotype driven analysis of whole genome sequencing identifies deep intronic variants that cause retinal dystrophies by aberrant exonization M Di Scipio, E Tavares, S Deshmukh, I Audo, K Green-Sanderson, ... Investigative ophthalmology & visual science 61 (10), 36-36, 2020 | 23 | 2020 |
| Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10 MKG Pechhacker, SG Jacobson, AV Drack, M Di Scipio, I Strubbe, ... Investigative ophthalmology & visual science 62 (15), 26-26, 2021 | 13 | 2021 |
| Gesturing about number sense J Lee, D Kotsopoulos, A Tumber, S Makosz Journal of Early Childhood Research 13 (3), 263-279, 2015 | 12 | 2015 |
| Ocular phenotype and electroretinogram abnormalities in Lafora disease: A “window to the brain” A Vincent, A Macrì, A Tumber, N Koukas, S Ahonen, P Striano, ... Neurology 91 (3), 137-139, 2018 | 10 | 2018 |
| Unique retinal signaling defect in GNB5-related disease Z Shao, A Tumber, J Maynes, E Tavares, P Kannu, E Heon, A Vincent Documenta Ophthalmologica 140, 273-277, 2020 | 9 | 2020 |
| Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness KE Leahy, T Wright, MK Grudzinska Pechhacker, I Audo, A Tumber, ... Genes 12 (3), 330, 2021 | 8 | 2021 |
| Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing … Z Shao, I Masuho, A Tumber, JT Maynes, E Tavares, A Ali, S Hewson, ... Genes 12 (9), 1352, 2021 | 5 | 2021 |
| Consortium GNB, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Heon E. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital … A Vincent, I Audo, E Tavares, JT Maynes, A Tumber, T Wright, S Li, ... Am J Hum Genet 98, 1011-9, 2016 | 5 | 2016 |
| The relationship between vocal pitch feedback error and event-related brain potentials. JA Jones, N Scheerer, A Tumber Proceedings of Meetings on Acoustics 19 (1), 2013 | 5 | 2013 |
| Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage A Orsini, D Ferrari, A Riva, A Santangelo, A Macrì, E Freri, L Canafoglia, ... Journal of neurology 269 (7), 3597-3604, 2022 | 4 | 2022 |
| CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency MK Grudzinska Pechhacker, M Di Scipio, A Vig, A Tumber, N Roslin, ... Ophthalmic Genetics 41 (5), 457-464, 2020 | 4 | 2020 |
| Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency A Pereira, B Ertl-Wagner, A Tumber, A Vincent, MJ Wan Documenta Ophthalmologica 146 (2), 173-180, 2023 | 3 | 2023 |
| Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa A Dvaladze, E Tavares, M Di Scipio, G Nimmo, ... Clinical Genetics 102 (6), 524-529, 2022 | 2 | 2022 |
| Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome BG Ballios, A Mandola, A Tayyib, A Tumber, J Garkaby, L Vong, E Heon, ... Eye 37 (18), 3734-3742, 2023 | 1 | 2023 |
| Retinal Phenotyping of a Murine Model of Lafora Disease A Vincent, K Ahmed, R Hussein, Z Berberovic, A Tumber, X Zhao, ... Genes 14 (4), 854, 2023 | 1 | 2023 |
