Ajoy Vincent
Ajoy Vincent
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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
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
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
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
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
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
Pathognomonic (Diagnostic) ERGs A review and Update
A Vincent, AG Robson, GE Holder
Retina 33 (1), 5-12, 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
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
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
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
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
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
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
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
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
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
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
A novel p. Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family
A Vincent, T Wright, MA Day, CA Westall, E Héon
Molecular Vision 17, 3262, 2011
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
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