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Elise Heon
Elise Heon
Verified email at sickkids.ca
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Year
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
T Rezaie, A Child, R Hitchings, G Brice, L Miller, M Coca-Prados, E Héon, ...
Science 295 (5557), 1077-1079, 2002
13082002
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
AV Cideciyan, TS Aleman, SL Boye, SB Schwartz, S Kaushal, AJ Roman, ...
Proceedings of the National Academy of Sciences 105 (39), 15112-15117, 2008
8072008
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years
SG Jacobson, AV Cideciyan, R Ratnakaram, E Heon, SB Schwartz, ...
Archives of ophthalmology 130 (1), 9-24, 2012
7682012
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
JH Fingert, E Héon, JM Liebmann, T Yamamoto, JE Craig, J Rait, ...
Human molecular genetics 8 (5), 899-905, 1999
6961999
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
S Monemi, G Spaeth, A DaSilva, S Popinchalk, E Ilitchev, J Liebmann, ...
Human molecular genetics 14 (6), 725-733, 2005
5822005
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ...
Nature genetics 22 (2), 199-202, 1999
5251999
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
5182018
Improvement and decline in vision with gene therapy in childhood blindness
SG Jacobson, AV Cideciyan, AJ Roman, A Sumaroka, SB Schwartz, ...
New England Journal of Medicine 372 (20), 1920-1926, 2015
4152015
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene
AL Vincent, G Billingsley, Y Buys, AV Levin, M Priston, G Trope, ...
The American Journal of Human Genetics 70 (2), 448-460, 2002
3872002
VSX1: A gene for posterior polymorphous dystrophy and keratoconus
E Heon, A Greenberg, KK Kopp, D Rootman, AL Vincent, G Billingsley, ...
Human molecular genetics 11 (9), 1029-1036, 2002
3552002
Mutations in MKKS cause Bardet-Biedl syndrome
AM Slavotinek, EM Stone, K Mykytyn, JR Heckenlively, JS Green, E Heon, ...
Nature genetics 26 (1), 15-16, 2000
3212000
The γ-crystallins and human cataracts: a puzzle made clearer
E Héon, M Priston, DF Schorderet, GD Billingsley, PO Girard, N Lubsen, ...
The American Journal of Human Genetics 65 (5), 1261-1267, 1999
3201999
Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma
RV Jamieson, R Perveen, B Kerr, M Carette, J Yardley, E Heon, MG Wirth, ...
Human molecular genetics 11 (1), 33-42, 2002
3112002
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)
DY Nishimura, CC Searby, R Carmi, K Elbedour, L Van Maldergem, ...
Human Molecular Genetics 10 (8), 865-874, 2001
3032001
Mutations in the CRB1 gene cause Leber congenital amaurosis
AJ Lotery, SG Jacobson, GA Fishman, RG Weleber, AB Fulton, ...
Archives of ophthalmology 119 (3), 415-420, 2001
2772001
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
SG Jacobson, TS Aleman, AV Cideciyan, A Sumaroka, SB Schwartz, ...
Proceedings of the National Academy of Sciences 102 (17), 6177-6182, 2005
2752005
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17
P Paluru, SM Ronan, E Heon, M Devoto, SC Wildenberg, G Scavello, ...
Investigative ophthalmology & visual science 44 (5), 1830-1836, 2003
2692003
An analysis of allelic variation in the ABCA4 gene
AR Webster, E Héon, AJ Lotery, K Vandenburgh, TL Casavant, KT Oh, ...
Investigative ophthalmology & visual science 42 (6), 1179-1189, 2001
2582001
BIGH3 mutation spectrum in corneal dystrophies
FL Munier, BE Frueh, P Othenin-Girard, S Uffer, P Cousin, MX Wang, ...
Investigative ophthalmology & visual science 43 (4), 949-954, 2002
2462002
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
2162015
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