DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, ... Genetics in Medicine 22 (12), 2041-2051, 2020 | 28 | 2020 |
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 | 19 | 2020 |
Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome E Tavares, CY Tang, A Vig, S Li, G Billingsley, W Sung, A Vincent, ... Molecular genetics & genomic medicine 7 (2), e00521, 2019 | 19 | 2019 |
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration J Moran, K G. Sanderson, J Maynes, A Vig, V Batmanabane, P Kannu, ... Clinical Genetics 94 (3-4), 368-372, 2018 | 6 | 2018 |
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 | 1 | 2020 |
A smartphone-based portable fundus camera for retinal photography in infants with suspected nonaccidental trauma O Solyman, AA Eldib, ES Elborgy, MMI Abushanab Journal of American Association for Pediatric Ophthalmology and Strabismus …, 2022 | | 2022 |
Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1 E Saleh, MG Pechhacker, A Vig, M Mehta, J Maynes, A Tumber, ... Journal of American Association for Pediatric Ophthalmology and Strabismus …, 2022 | | 2022 |
THE ROLE OF THE PEER SUPPORT AND TRAUMA RESPONSE PROGRAM AT THE TORONTO HOSPITAL FOR SICK CHILDREN IN SUPPORTING STAFF MENTAL HEALTH DURING COVID-19 A Vig, K McNaughton, C Diskin, J Henry Crisis, Stress, and Human Resilience: An International Journal 3 (3), 70-84, 2021 | | 2021 |
CRB1-related retinopathy superimposed on a S-adenosylhomocysteine hydrolase deficiency phenotype M Di Scipio, MK Pechhacker, A Vig, A Anupreet, E Tavares, A Vincent, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 186-187, 2020 | | 2020 |
Genetic Characterization of Two Cases of Non-syndromic Inherited Retinal Disease AV Vig University of Toronto (Canada), 2020 | | 2020 |
Investigation of the role of a homozygous mutation in BBS10 in non syndromic retinal degeneration AV Vig, E Tavares, O Kehelwathugoda, A Mollica, J Maynes, A Vincent, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1240-1240, 2019 | | 2019 |
The number of RPGR cases remains under-represented E Heon, A Vig, E Tavares, A Vincent Investigative Ophthalmology & Visual Science 60 (9), 389-389, 2019 | | 2019 |
Functional validation of an epigenomic variant associated to retinitis pigmentosa AV Vig, M Liang, A Mollica, E Tavares, M Wilson, V Mennella, A Vincent, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 624-625, 2019 | | 2019 |
SVAF retrotransposon insertion in BBS1 gene, leading to Bardet-Biedl Syndrome E Tavares, A Vig, S Li, G Billingsley, W Sung, A Vincent, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 67-68, 2019 | | 2019 |
NM_001252024. 1: c. 3224 C> T p.(Pro1075Leu) E Saleh, MG Pechhacker, A Vig, M Mehta, J Maynes, A Tumber, ... | | |