| Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 531 | 2018 |
| Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ... Nature genetics 47 (7), 757-765, 2015 | 221 | 2015 |
| Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome S Dhanraj, A Matveev, H Li, S Lauhasurayotin, L Jardine, M Cada, ... Blood, The Journal of the American Society of Hematology 129 (11), 1557-1562, 2017 | 144 | 2017 |
| BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition C Deveault, G Billingsley, JL Duncan, J Bin, R Theal, A Vincent, ... Human mutation 32 (6), 610-619, 2011 | 136 | 2011 |
| Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21) E Heon, G Kim, S Qin, JE Garrison, E Tavares, A Vincent, ... Human molecular genetics 25 (11), 2283-2294, 2016 | 130 | 2016 |
| A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants E Lenassi, A Vincent, Z Li, Z Saihan, AJ Coffey, HB Steele-Stallard, ... European Journal of Human Genetics 23 (10), 1318-1327, 2015 | 116 | 2015 |
| Pathognomonic (Diagnostic) ERGs A review and Update A Vincent, AG Robson, GE Holder Retina 33 (1), 5-12, 2013 | 106 | 2013 |
| A phenotype–genotype correlation study of X-linked retinoschisis A Vincent, AG Robson, MM Neveu, GA Wright, AT Moore, AR Webster, ... Ophthalmology 120 (7), 1454-1464, 2013 | 72 | 2013 |
| Achromatopsia mutations target sequential steps of ATF6 activation WC Chiang, P Chan, B Wissinger, A Vincent, A Skorczyk-Werner, ... Proceedings of the National Academy of Sciences 114 (2), 400-405, 2017 | 69 | 2017 |
| Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration CA Ku, S Hull, G Arno, A Vincent, K Carss, R Kayton, D Weeks, ... JAMA ophthalmology 135 (7), 749-760, 2017 | 68 | 2017 |
| 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 |
| Electrophysiological and structural assessment of the central retina following intravitreal injection of bevacizumab for treatment of macular edema R Shetty, SA Pai, A Vincent, N Shetty, KM Narayana, B Sinha, BK Shetty Documenta ophthalmologica 116, 129-135, 2008 | 50 | 2008 |
| OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium A Vincent, N Forster, JT Maynes, TA Paton, G Billingsley, NM Roslin, A Ali, ... Journal of medical genetics 51 (12), 797-805, 2014 | 47 | 2014 |
| Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related “cone dystrophy with supernormal rod electroretinogram” A Vincent, T Wright, Y Garcia-Sanchez, M Kisilak, M Campbell, C Westall, ... Investigative ophthalmology & visual science 54 (1), 898-908, 2013 | 47 | 2013 |
| 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 |
| Characterization of retinal structure in ATF6-associated achromatopsia RR Mastey, M Georgiou, CS Langlo, A Kalitzeos, EJ Patterson, T Kane, ... Investigative ophthalmology & visual science 60 (7), 2631-2640, 2019 | 45 | 2019 |
| 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 | 42 | 2020 |
| Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes YV Sergeev, S Vitale, PA Sieving, A Vincent, AG Robson, AT Moore, ... Human molecular genetics 22 (23), 4756-4767, 2013 | 41 | 2013 |
| The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration A Vincent, FL Munier, CC Vandenhoven, T Wright, CA Westall, E Héon Retina 32 (8), 1643-1651, 2012 | 39 | 2012 |
| Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly G Billingsley, A Vincent, C Deveault, E Héon Ophthalmic genetics 33 (3), 150-154, 2012 | 39 | 2012 |
Elise HeonProfessor University of Toronto在 sickkids.ca 的电子邮件经过验证
