Elise Héon

Author PubWeight™ 65.06‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002 6.53
2 Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005 3.56
3 BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 2002 2.19
4 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002 2.13
5 The need for standardization of antiretinal antibody detection and measurement. Am J Ophthalmol 2008 1.83
6 Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci 2006 1.53
7 CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet 2006 1.41
8 Adult ovarian retinoblastoma genomic profile distinct from prior childhood eye tumor. Arch Ophthalmol 2011 1.39
9 Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). Doc Ophthalmol 2008 1.33
10 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 2011 1.28
11 Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. Arch Ophthalmol 2008 1.21
12 CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci 2004 1.21
13 CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis 2005 1.16
14 Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci 2004 1.12
15 Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. Vision Res 2007 1.08
16 Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. Invest Ophthalmol Vis Sci 2013 1.08
17 An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes. PLoS Genet 2008 1.06
18 High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography. J AAPOS 2009 1.05
19 BBS mutational analysis: a strategic approach. Ophthalmic Genet 2011 1.03
20 Prosthetic conformers: a step towards improved rehabilitation of enucleated children. Clin Experiment Ophthalmol 2002 1.03
21 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet 2010 1.02
22 Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis 2008 1.02
23 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res 2007 0.99
24 Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation. Acta Ophthalmol 2010 0.98
25 Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Invest Ophthalmol Vis Sci 2011 0.98
26 The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina 2012 0.95
27 Periocular topotecan for intraocular retinoblastoma. Arch Ophthalmol 2011 0.91
28 Eight previously unidentified mutations found in the OA1 ocular albinism gene. BMC Med Genet 2006 0.90
29 Management and outcome of unilateral retinoblastoma. J AAPOS 2009 0.90
30 A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis 2011 0.89
31 Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. Invest Ophthalmol Vis Sci 2004 0.88
32 Mutational analysis of the OA1 gene in ocular albinism. Ophthalmic Genet 2003 0.88
33 Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease. Can J Ophthalmol 2007 0.87
34 Assessment of central retinal function in patients with advanced retinitis pigmentosa. Invest Ophthalmol Vis Sci 2007 0.87
35 Hey, I just did a new operation!: Introducing innovative procedures and devices within an academic health center. Ann Surg 2015 0.85
36 Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma. Transl Res 2010 0.84
37 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Hum Mutat 2009 0.84
38 Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. PLoS Genet 2011 0.83
39 Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity. Genet Med 2010 0.83
40 Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genet 2012 0.82
41 Retinoblastoma CSF metastasis cured by multimodality chemotherapy without radiation. Ophthalmic Genet 2009 0.82
42 Detection of optic nerve disease in retinoblastoma by use of spectral domain optical coherence tomography. J AAPOS 2012 0.81
43 Further genetic heterogeneity for autosomal dominant human sutural cataracts. Ophthalmic Res 2003 0.81
44 Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". Invest Ophthalmol Vis Sci 2013 0.81
45 Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for. Pediatr Radiol 2004 0.81
46 Ocular manifestations of the Johanson-Blizzard syndrome. J AAPOS 2009 0.80
47 Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. Ophthalmic Genet 2011 0.80
48 Toxocariasis mimicking liver, lung, and spinal cord metastases from retinoblastoma. Pediatr Infect Dis J 2009 0.79
49 Retinoma underlying retinoblastoma revealed after tumor response to 1 cycle of chemotherapy. Arch Ophthalmol 2009 0.79
50 Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. Arch Ophthalmol 2007 0.78
51 My child has Leber congenital amaurosis: why is he/she not eligible for gene therapy trials? J AAPOS 2009 0.78
52 Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. J Child Neurol 2003 0.78
53 Multifaceted chemotherapy for trilateral retinoblastoma. Arch Ophthalmol 2011 0.77
54 Trilateral retinoblastoma with pituitary-hypothalamic dysfunction. Ophthalmic Genet 2008 0.76
55 No ocular motility complications after subtenon topotecan with fibrin sealant for retinoblastoma. Can J Ophthalmol 2013 0.76
56 Radiologic surveillance for retinoblastoma metastases unexpectedly showed disseminated toxocariasis in liver, lung, and spinal cord. Can J Ophthalmol 2010 0.76
57 Caenorhabditis elegans as a model organism for ciliopathies and related forms of photoreceptor degeneration. Adv Exp Med Biol 2012 0.76
58 Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child. Br J Ophthalmol 2013 0.75
59 Unusual ocular presentation of von Hippel-Lindau disease. Can J Ophthalmol 2005 0.75
60 Leukocoria caused by intraocular heterotopic brain tissue. Arch Ophthalmol 2004 0.75
61 Utility of molecular testing for related retinal dystrophies. Can J Ophthalmol 2006 0.75
62 Reply to Letter: "Hey, I Just Did a Better Operation! Toward an IDEAL Innovation Model". Ann Surg 2017 0.75
63 Jack Crawford Day 2009. Can J Ophthalmol 2009 0.75
64 Pupillary reflex dilation and skin temperature to assess sensory level during combined general and caudal anesthesia in children. Paediatr Anaesth 2004 0.75