| Year |
Citation |
Score |
| 2023 |
Li RTH, Roman AJ, Sumaroka A, Stanton CM, Swider M, Garafalo AV, Heon E, Vincent A, Wright AF, Megaw R, Aleman TS, Browning AC, Dhillon B, Cideciyan AV. Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5. Investigative Ophthalmology & Visual Science. 64: 33. PMID 38133503 DOI: 10.1167/iovs.64.15.33 |
0.322 |
|
| 2023 |
Ballios BG, Mandola A, Tayyib A, Tumber A, Garkaby J, Vong L, Heon E, Roifman CM, Vincent A. Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. Eye (London, England). PMID 37225827 DOI: 10.1038/s41433-023-02581-1 |
0.317 |
|
| 2023 |
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, ... ... Heon E, et al. Whole genome sequencing for -associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. Hgg Advances. 4: 100181. PMID 36785559 DOI: 10.1016/j.xhgg.2023.100181 |
0.308 |
|
| 2023 |
Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, et al. Shedding light on myopia by studying complete congenital stationary night blindness. Progress in Retinal and Eye Research. 101155. PMID 36669906 DOI: 10.1016/j.preteyeres.2022.101155 |
0.319 |
|
| 2022 |
Cideciyan AV, Jacobson SG, Swider M, Sumaroka A, Sheplock R, Krishnan AK, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Heon E. Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations. Investigative Ophthalmology & Visual Science. 63: 12. PMID 36512348 DOI: 10.1167/iovs.63.13.12 |
0.353 |
|
| 2022 |
Cideciyan AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK, Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Matsui Y, Kondo M, Heon E. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. Vision Research. 203: 108157. PMID 36450205 DOI: 10.1016/j.visres.2022.108157 |
0.396 |
|
| 2022 |
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, ... ... Heon E, et al. Deep Intronic Variant in MVK as a Cause for Mevalonic Aciduria Initially Presenting as Non-syndromic Retinitis Pigmentosa. Clinical Genetics. PMID 35916082 DOI: 10.1111/cge.14207 |
0.359 |
|
| 2021 |
Occelli LM, Daruwalla A, De Silva SR, Winkler PA, Sun K, Pasmanter N, Minella A, Querubin J, Lyons LA, Consortium L, Robson AG, Heon E, Michaelides M, Webster AR, Palczewski K, et al. A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype. Human Molecular Genetics. PMID 34726233 DOI: 10.1093/hmg/ddab316 |
0.315 |
|
| 2021 |
Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, et al. KCNV2-associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints - KCNV2 Study Group Report 2. American Journal of Ophthalmology. PMID 33737031 DOI: 10.1016/j.ajo.2021.03.004 |
0.313 |
|
| 2021 |
Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A. Optic Atrophy and Inner Retinal Thinning in -related Congenital Stationary Night Blindness. Genes. 12. PMID 33668843 DOI: 10.3390/genes12030330 |
0.316 |
|
| 2020 |
Tabbarah S, Tavares E, Charish J, Vincent A, Paterson A, Di Scipio M, Yin Y, Mendoza-Londono R, Maynes J, Heon E, Monnier PP. COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage. Scientific Reports. 10: 21269. PMID 33277529 DOI: 10.1038/s41598-020-77394-3 |
0.316 |
|
| 2020 |
Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, et al. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization. Investigative Ophthalmology & Visual Science. 61: 36. PMID 32881472 DOI: 10.1167/Iovs.61.10.36 |
0.642 |
|
| 2020 |
Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, ... ... Heon E, et al. Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium. Translational Vision Science & Technology. 9: 2. PMID 32832209 DOI: 10.1167/Tvst.9.7.2 |
0.301 |
|
| 2020 |
Grudzinska Pechhacker MK, Yoon G, Hazrati LN, Maynes J, MacDonald H, Tavares E, Vincent A, Heon E. FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. European Journal of Medical Genetics. 104037. PMID 32822874 DOI: 10.1016/J.Ejmg.2020.104037 |
0.477 |
|
| 2020 |
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G, Khan KN, ... ... Heon E, et al. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32753734 DOI: 10.1038/S41436-020-0915-1 |
0.459 |
|
| 2020 |
Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E. -related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. Ophthalmic Genetics. 1-8. PMID 32689861 DOI: 10.1080/13816810.2020.1790013 |
0.43 |
|
| 2020 |
Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL, Heon E, Hufnagel RB, et al. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity. American Journal of Ophthalmology. PMID 32446738 DOI: 10.1016/J.Ajo.2020.05.024 |
0.331 |
|
| 2020 |
Barabino A, Flamier A, Hanna R, Héon E, Freedman BS, Bernier G. Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies. Stem Cell Reports. PMID 32160518 DOI: 10.1016/J.Stemcr.2020.02.005 |
0.418 |
|
| 2020 |
Krishnan AK, Jacobson SG, Roman AJ, Iyer BS, Garafalo AV, Héon E, Cideciyan AV. Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function. Vision Research. 168: 53-63. PMID 32088401 DOI: 10.1016/J.Visres.2020.01.006 |
0.325 |
|
| 2019 |
Garafalo AV, Cideciyan AV, Heon E, Sheplock R, Pearson A, WeiYang Yu C, Sumaroka A, Aguirre GD, Jacobson SG. Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives. Progress in Retinal and Eye Research. 100827. PMID 31899291 DOI: 10.1016/J.Preteyeres.2019.100827 |
0.375 |
|
| 2019 |
Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Unique retinal signaling defect in GNB5-related disease. Documenta Ophthalmologica. Advances in Ophthalmology. PMID 31720979 DOI: 10.1007/S10633-019-09735-1 |
0.376 |
|
| 2019 |
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, et al. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31700164 DOI: 10.1038/S41436-019-0685-9 |
0.364 |
|
| 2019 |
Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, et al. Characterization of Retinal Structure in ATF6-Associated Achromatopsia. Investigative Ophthalmology & Visual Science. 60: 2631-2640. PMID 31237654 DOI: 10.1167/Iovs.19-27047 |
0.427 |
|
| 2019 |
Drack AV, Utz VM, Wang K, Alcorn DM, Brooks BP, Costakos DM, Couser NL, Heon E, Levin AV, Lloyd IC, Morse CL, Schmitt MA, Whitman MC, Traboulsi EI. Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus. PMID 31233830 DOI: 10.1016/J.Jaapos.2019.04.005 |
0.305 |
|
| 2019 |
Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, et al. Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. Frontiers in Physiology. 10: 688. PMID 31231240 DOI: 10.3389/Fphys.2019.00688 |
0.325 |
|
| 2019 |
Drack AV, Alcorn DM, Costakos DM, Levin AV, Lloyd IC, Miraldi Utz VA, Schmitt MA, Heon E, Whitman M, Zein W, Dumitrescu A. AAPOS Genetic Eye Disease Committee workshop: does this patient have a genetic eye disease? should I refer? Journal of American Association For Pediatric Ophthalmology and Strabismus. 23: e69. DOI: 10.1016/J.Jaapos.2019.08.252 |
0.338 |
|
| 2018 |
Scott BM, Chen SK, Bhattacharyya N, Moalim AY, Plotnikov SV, Heon E, Peisajovich SG, Chang BSW. Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease. Genetics. PMID 30514708 DOI: 10.1534/Genetics.118.301733 |
0.443 |
|
| 2018 |
Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E. Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. Molecular Genetics & Genomic Medicine. PMID 30484961 DOI: 10.1002/Mgg3.521 |
0.444 |
|
| 2018 |
Cideciyan AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG. Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years. Investigative Ophthalmology & Visual Science. 59: 4558-4566. PMID 30208424 DOI: 10.1167/Iovs.18-24931 |
0.451 |
|
| 2018 |
Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG. Efficacy Outcome Measures for Clinical Trials of USH2A caused by the Common c.2299delG Mutation. American Journal of Ophthalmology. PMID 29953849 DOI: 10.1016/J.Ajo.2018.06.017 |
0.391 |
|
| 2018 |
Moran J, Sanderson KG, Maynes J, Vig A, Batmanabane V, Kannu P, Tavares E, Vincent A, Héon E. IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration. Clinical Genetics. 94: 368-372. PMID 29923190 DOI: 10.1111/Cge.13408 |
0.465 |
|
| 2018 |
Guziewicz KE, Cideciyan AV, Beltran WA, Komáromy AM, Dufour VL, Swider M, Iwabe S, Sumaroka A, Kendrick BT, Ruthel G, Chiodo VA, Héon E, Hauswirth WW, Jacobson SG, Aguirre GD.
gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. Proceedings of the National Academy of Sciences of the United States of America. PMID 29507198 DOI: 10.1073/Pnas.1720662115 |
0.437 |
|
| 2018 |
Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta. American Journal of Ophthalmology. PMID 29421294 DOI: 10.1016/J.Ajo.2018.01.029 |
0.443 |
|
| 2018 |
Drack AV, Brooks BP, Costakos DM, Couser NL, Traboulsi EI, Levin AV, Lloyd IC, Utz VM, Schmitt MA, Alcorn D, Heon E, Whitman MC. AAPOS Genetic Task Force Workshop: does this patient have a genetic eye disease? should I refer? Journal of American Association For Pediatric Ophthalmology and Strabismus. 22: e92-e93. DOI: 10.1016/J.Jaapos.2018.07.337 |
0.305 |
|
| 2017 |
Vincent A, AlAli A, MacDonald H, VandenHoven C, Héon E. Specific retinal phenotype in early IQCB1-related disease. Eye (London, England). PMID 29219953 DOI: 10.1038/Eye.2017.283 |
0.412 |
|
| 2017 |
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, ... ... Heon E, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771251 DOI: 10.1038/Gim.2017.119 |
0.356 |
|
| 2017 |
Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, ... ... Heon E, et al. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science. 58: 3840-3850. PMID 28763557 DOI: 10.1167/Iovs.17-21597 |
0.47 |
|
| 2017 |
Chaudhry A, Chung BH, Stavropoulos DJ, Araya MP, Ali A, Heon E, Chitayat D. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. American Journal of Medical Genetics. Part A. PMID 28742278 DOI: 10.1002/Ajmg.A.38321 |
0.345 |
|
| 2017 |
McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes. 8. PMID 28704921 DOI: 10.3390/Genes8070178 |
0.475 |
|
| 2017 |
Charng J, Jacobson SG, Heon E, Roman AJ, McGuigan DB, Sheplock R, Kosyk MS, Swider M, Cideciyan AV. Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. Investigative Ophthalmology & Visual Science. 58: 3215-3224. PMID 28660274 DOI: 10.1167/Iovs.17-21909 |
0.437 |
|
| 2017 |
Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, ... Heon E, et al. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. Jama Ophthalmology. PMID 28542676 DOI: 10.1001/Jamaophthalmol.2017.1401 |
0.511 |
|
| 2017 |
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis caused by GUCY2D Mutations. American Journal of Ophthalmology. PMID 28212877 DOI: 10.1016/J.Ajo.2017.02.003 |
0.343 |
|
| 2017 |
Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, et al. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. PMID 28062395 DOI: 10.1182/Blood-2016-08-735431 |
0.377 |
|
| 2017 |
Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ. Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. Plos One. 12: e0169215. PMID 28046031 DOI: 10.1371/Journal.Pone.0169215 |
0.372 |
|
| 2016 |
Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Achromatopsia mutations target sequential steps of ATF6 activation. Proceedings of the National Academy of Sciences of the United States of America. PMID 28028229 DOI: 10.1073/Pnas.1606387114 |
0.365 |
|
| 2016 |
Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Variegated yet Non-Random Rod and Cone Photoreceptor Disease Patterns in RPGR-ORF15-associated Retinal Degeneration. Human Molecular Genetics. PMID 27798110 DOI: 10.1093/Hmg/Ddw361 |
0.47 |
|
| 2016 |
Kletke S, Batmanabane V, Dai T, Vincent A, Li S, Gordon KA, Papsin BC, Cushing SL, Héon E. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. Clinical Genetics. PMID 27743452 DOI: 10.1111/Cge.12895 |
0.37 |
|
| 2016 |
Heon E, Alabduljalil T, Iii DB, Cideciyan AV, Li S, Chen S, Jacobson SG. Visual Function and Central Retinal Structure in Choroideremia. Investigative Ophthalmology & Visual Science. 57: OCT377-87. PMID 27409497 DOI: 10.1167/Iovs.15-18421 |
0.392 |
|
| 2016 |
Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, et al. Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. Investigative Ophthalmology & Visual Science. 57: 2637-2646. PMID 27258436 DOI: 10.1167/Iovs.15-18281 |
0.381 |
|
| 2016 |
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, et al. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. American Journal of Human Genetics. PMID 27063057 DOI: 10.1016/J.Ajhg.2016.03.021 |
0.47 |
|
| 2016 |
Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Human Molecular Genetics. PMID 27008867 DOI: 10.1093/Hmg/Ddw096 |
0.503 |
|
| 2016 |
Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O. Spondyloocular Syndrome - Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 26987875 DOI: 10.1002/Jbmr.2834 |
0.408 |
|
| 2015 |
Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, et al. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology. PMID 26507665 DOI: 10.1016/J.Ophtha.2015.10.006 |
0.462 |
|
| 2015 |
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, ... ... Heon E, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical Genetics. PMID 26283276 DOI: 10.1111/Cge.12654 |
0.422 |
|
| 2015 |
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, et al. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nature Genetics. 47: 757-65. PMID 26029869 DOI: 10.1038/Ng.3319 |
0.461 |
|
| 2015 |
Jacobson SG, Cideciyan AV, Roman AJ, Sumaroka A, Schwartz SB, Heon E, Hauswirth WW. Improvement and decline in vision with gene therapy in childhood blindness. The New England Journal of Medicine. 372: 1920-6. PMID 25936984 DOI: 10.1056/Nejmoa1412965 |
0.356 |
|
| 2015 |
Bourgault S, Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, Colleaux KM, Laliberté I. Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series. The British Journal of Ophthalmology. PMID 25926518 DOI: 10.1136/Bjophthalmol-2014-305897 |
0.4 |
|
| 2015 |
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. European Journal of Human Genetics : Ejhg. PMID 25649381 DOI: 10.1038/Ejhg.2014.283 |
0.331 |
|
| 2015 |
Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. European Journal of Human Genetics : Ejhg. 23: 310-6. PMID 24961627 DOI: 10.1038/Ejhg.2014.112 |
0.44 |
|
| 2014 |
Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR, Héon E. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. Journal of Medical Genetics. 51: 797-805. PMID 25293953 DOI: 10.1136/Jmedgenet-2014-102620 |
0.449 |
|
| 2014 |
Astudillo PP, Chan HS, Héon E, Gallie BL. Late-diagnosis retinoblastoma with germline mosaicism in an 8-year-old. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 18: 500-2. PMID 25266839 DOI: 10.1016/J.Jaapos.2014.06.012 |
0.354 |
|
| 2014 |
Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. Jama Ophthalmology. 132: 1393-9. PMID 25124931 DOI: 10.1001/Jamaophthalmol.2014.2814 |
0.469 |
|
| 2013 |
Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG. Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science. 54: 1378-83. PMID 23341016 DOI: 10.1167/Iovs.12-11341 |
0.421 |
|
| 2013 |
Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Human Molecular Genetics. 22: 168-83. PMID 23035049 DOI: 10.1093/Hmg/Dds421 |
0.463 |
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| 2012 |
Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, ... Heon E, et al. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nature Genetics. 44: 972-4. PMID 22842231 DOI: 10.1038/Ng.2370 |
0.436 |
|
| 2012 |
Vincent A, Héon E. Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene. Eye. 26: 1278-1280. PMID 22744390 DOI: 10.1038/Eye.2012.125 |
0.392 |
|
| 2012 |
Billingsley G, Vincent A, Deveault C, Héon E. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genetics. 33: 150-4. PMID 22626039 DOI: 10.3109/13816810.2012.689411 |
0.358 |
|
| 2012 |
Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina (Philadelphia, Pa.). 32: 1643-51. PMID 22277927 DOI: 10.1097/Iae.0B013E318240A574 |
0.42 |
|
| 2012 |
Mok CA, Héon E. Caenorhabditis elegans as a model organism for ciliopathies and related forms of photoreceptor degeneration. Advances in Experimental Medicine and Biology. 723: 533-8. PMID 22183374 DOI: 10.1007/978-1-4614-0631-0_67 |
0.304 |
|
| 2012 |
Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, et al. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Archives of Ophthalmology (Chicago, Ill. : 1960). 130: 9-24. PMID 21911650 DOI: 10.1001/Archophthalmol.2011.298 |
0.42 |
|
| 2012 |
Chan HSL, Dimaras H, Héon E, Khetan V, Gallie BL. Abstract 809: Prenatal and postnatal management of infants at 100%-risk for developing retinoblastoma Cancer Research. 72: 809-809. DOI: 10.1158/1538-7445.Am2012-809 |
0.306 |
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| 2011 |
Mok CA, Healey MP, Shekhar T, Leroux MR, Héon E, Zhen M. Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. Plos Genetics. 7: e1002335. PMID 22022287 DOI: 10.1371/Journal.Pgen.1002335 |
0.363 |
|
| 2011 |
Billingsley G, Deveault C, Héon E. BBS mutational analysis: a strategic approach. Ophthalmic Genetics. 32: 181-7. PMID 21463199 DOI: 10.3109/13816810.2011.567319 |
0.417 |
|
| 2011 |
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Human Mutation. 32: 610-9. PMID 21344540 DOI: 10.1002/Humu.21480 |
0.441 |
|
| 2011 |
Vincent A, Wright T, Billingsley G, Westall C, Héon E. Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. Ophthalmic Genetics. 32: 107-13. PMID 21268679 DOI: 10.3109/13816810.2010.544366 |
0.396 |
|
| 2011 |
Vincent A, McAlister C, VandenHoven C, Héon E. BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies Eye. 25: 113-118. PMID 21072067 DOI: 10.1038/Eye.2010.165 |
0.335 |
|
| 2010 |
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Journal of Medical Genetics. 47: 453-63. PMID 20472660 DOI: 10.1136/Jmg.2009.073205 |
0.353 |
|
| 2010 |
Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology. 117: 1190-8. PMID 20079931 DOI: 10.1016/J.Ophtha.2009.09.056 |
0.411 |
|
| 2010 |
Nguyen DQ, Hosseini M, Billingsley G, Héon E, Churchill AJ. Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation. Acta Ophthalmologica. 88: 695-9. PMID 19432861 DOI: 10.1111/J.1755-3768.2009.01511.X |
0.463 |
|
| 2009 |
Mallipatna AC, Sutherland JE, Gallie BL, Chan H, Héon E. Management and outcome of unilateral retinoblastoma. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 13: 546-50. PMID 20006813 DOI: 10.1016/J.Jaapos.2009.09.004 |
0.348 |
|
| 2009 |
Héon E. My child has Leber congenital amaurosis: why is he/she not eligible for gene therapy trials? Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 13: 533-4. PMID 19896875 DOI: 10.1016/J.Jaapos.2009.09.006 |
0.38 |
|
| 2009 |
Cheung JC, Thomson H, Buncic JR, Héon E, Levin AV. Ocular manifestations of the Johanson-Blizzard syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 13: 512-4. PMID 19717322 DOI: 10.1016/J.Jaapos.2009.05.005 |
0.331 |
|
| 2009 |
Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Human Mutation. 30: E737-46. PMID 19402160 DOI: 10.1002/Humu.21040 |
0.447 |
|
| 2009 |
Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science. 50: 2368-75. PMID 19117922 DOI: 10.1167/Iovs.08-2696 |
0.425 |
|
| 2008 |
Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proceedings of the National Academy of Sciences of the United States of America. 105: 15112-7. PMID 18809924 DOI: 10.1073/Pnas.0807027105 |
0.394 |
|
| 2008 |
Bereta G, Kiser PD, Golczak M, Sun W, Heon E, Saperstein DA, Palczewski K. Impact of retinal disease-associated RPE65 mutations on retinoid isomerization. Biochemistry. 47: 9856-65. PMID 18722466 DOI: 10.1021/Bi800905V |
0.472 |
|
| 2008 |
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Investigative Ophthalmology & Visual Science. 49: 4573-7. PMID 18539930 DOI: 10.1167/Iovs.08-2121 |
0.43 |
|
| 2008 |
Hosseini SM, Herd S, Vincent AL, Héon E. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: Genetic heterogeneity and exclusion of three candidate genes Molecular Vision. 14: 71-80. PMID 18253095 |
0.311 |
|
| 2007 |
Morad Y, Sutherland J, DaSilva L, Ulster A, Shik J, Gallie B, Héon E, Levin AV. Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 42: 734-8. PMID 17891201 DOI: 10.3129/I07-144 |
0.318 |
|
| 2007 |
Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Human cone photoreceptor dependence on RPE65 isomerase. Proceedings of the National Academy of Sciences of the United States of America. 104: 15123-8. PMID 17848510 DOI: 10.1073/Pnas.0706367104 |
0.424 |
|
| 2007 |
Sun W, Gerth C, Maeda A, Lodowski DT, Van Der Kraak L, Saperstein DA, Héon E, Palczewski K. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. Vision Research. 47: 2055-66. PMID 17512964 DOI: 10.1016/J.Visres.2007.04.005 |
0.435 |
|
| 2007 |
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Investigative Ophthalmology & Visual Science. 48: 332-8. PMID 17197551 DOI: 10.1167/Iovs.06-0599 |
0.481 |
|
| 2006 |
Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Héon E. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. American Journal of Human Genetics. 79: 702-9. PMID 16960806 DOI: 10.1086/507712 |
0.408 |
|
| 2006 |
Mezer E, Sutherland J, Goei SL, Héon E, Levin AV. Utility of molecular testing for related retinal dystrophies. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 41: 190-6. PMID 16767206 DOI: 10.1139/I06-007 |
0.403 |
|
| 2006 |
Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, et al. Eight previously unidentified mutations found in the OA1 ocular albinism gene. Bmc Medical Genetics. 7: 41. PMID 16646960 DOI: 10.1186/1471-2350-7-41 |
0.463 |
|
| 2005 |
Valenzuela A, Druker H, Malkin D, Gallie B, Héon E. Unusual ocular presentation of von Hippel-Lindau disease. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 40: 593-7. PMID 16391622 DOI: 10.1016/S0008-4182(05)80051-1 |
0.4 |
|
| 2005 |
Willoughby CE, Shafiq A, Ferrini W, Chan LL, Billingsley G, Priston M, Mok C, Chandna A, Kaye S, Héon E. CRYBB1 mutation associated with congenital cataract and microcornea. Molecular Vision. 11: 587-93. PMID 16110300 |
0.618 |
|
| 2005 |
Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proceedings of the National Academy of Sciences of the United States of America. 102: 6177-82. PMID 15837919 DOI: 10.1073/Pnas.0500646102 |
0.471 |
|
| 2005 |
Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Héon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Human Molecular Genetics. 14: 725-33. PMID 15677485 DOI: 10.1093/Hmg/Ddi068 |
0.399 |
|
| 2005 |
Quah BL, Hamilton J, Blaser S, Héon E, Tehrani NN. Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for. Pediatric Radiology. 35: 525-8. PMID 15480611 DOI: 10.1007/S00247-004-1345-Y |
0.315 |
|
| 2004 |
Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Héon E, Munier FL. CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Investigative Ophthalmology & Visual Science. 45: 1436-41. PMID 15111599 |
0.304 |
|
| 2004 |
Willoughby CE, Arab S, Gandhi R, Zeinali S, Luk D, Billingsley G, Munier FL, Héon E. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract1 American Journal of Ophthalmology. 137: 1171. DOI: 10.1016/J.Ajo.2004.04.033 |
0.393 |
|
| 2003 |
Lodha N, Westall CA, Brent M, Abdolell M, Héon E. A modified protocol for the assessment of visual function in patients with retinitis pigmentosa. Advances in Experimental Medicine and Biology. 533: 49-57. PMID 15180247 DOI: 10.1007/978-1-4615-0067-4_7 |
0.309 |
|
| 2003 |
Vincent AL, Rootman D, Munier FL, Héon E. A molecular perspective on corneal dystrophies Developments in Ophthalmology. 37: 50-66. PMID 12876829 DOI: 10.1159/000072038 |
0.416 |
|
| 2003 |
Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M. Mutational analysis of the OA1 gene in ocular albinism. Ophthalmic Genetics. 24: 167-73. PMID 12868035 DOI: 10.1076/Opge.24.3.167.15605 |
0.447 |
|
| 2003 |
Salman MS, Blaser S, Buncic JR, Westall CA, Héon E, Becker L. Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. Journal of Child Neurology. 18: 220-5. PMID 12731647 DOI: 10.1177/08830738030180031201 |
0.359 |
|
| 2003 |
Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie O, Cole WG, King RA, Young TL. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Investigative Ophthalmology & Visual Science. 44: 1830-6. PMID 12714612 DOI: 10.1167/Iovs.02-0697 |
0.34 |
|
| 2003 |
Héon E. Predictive DNA testing in ophthalmology: View 1 British Journal of Ophthalmology. 87: 633-635. PMID 12714410 DOI: 10.1136/Bjo.87.5.633-A |
0.389 |
|
| 2003 |
Klopp N, Héon E, Billingsley G, Illig T, Wjst M, Rudolph G, Graw J. Further genetic heterogeneity for autosomal dominant human sutural cataracts. Ophthalmic Research. 35: 71-7. PMID 12646746 DOI: 10.1159/000069134 |
0.44 |
|
| 2002 |
Valverde K, Pandya J, Heon E, Goh TS, Gallie BL, Chan HS. Retinoblastoma with central retinal artery thrombosis that mimics extraocular disease. Medical and Pediatric Oncology. 38: 277-9. PMID 11920797 DOI: 10.1002/Mpo.1325 |
0.354 |
|
| 2002 |
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin Science. 295: 1077-1079. PMID 11834836 DOI: 10.1126/Science.1066901 |
0.378 |
|
| 2002 |
Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. American Journal of Human Genetics. 70: 448-60. PMID 11774072 DOI: 10.1086/338709 |
0.444 |
|
| 2002 |
Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Human Molecular Genetics. 11: 33-42. PMID 11772997 DOI: 10.1093/Hmg/11.1.33 |
0.421 |
|
| 2001 |
Mataftsi A, Achache F, Héon E, Mermoud A, Cousin P, Metthez G, Schorderet DF, Munier FL. MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. Ophthalmic Genetics. 22: 225-231. PMID 11803488 DOI: 10.1076/Opge.22.4.225.2218 |
0.417 |
|
| 2001 |
Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin AV, Walter MA, Héon E. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld–Rieger syndrome Human Molecular Genetics. 10: 1631-1638. PMID 11487566 DOI: 10.1093/Hmg/10.16.1631 |
0.381 |
|
| 2001 |
Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Héon E. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. Journal of Medical Genetics. 38: 324-6. PMID 11403040 DOI: 10.1136/Jmg.38.5.324 |
0.472 |
|
| 2001 |
Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier J, Heon E, Abitbol M. Mutation analysis of the tyrosinase gene in oculocutaneous albinism. Human Mutation. 17: 352-352. PMID 11295837 DOI: 10.1002/Humu.38 |
0.435 |
|
| 2001 |
Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, ... Heon E, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Human Molecular Genetics. 10: 865-74. PMID 11285252 DOI: 10.1093/Hmg/10.8.865 |
0.374 |
|
| 2000 |
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genetics. 26: 15-6. PMID 10973238 DOI: 10.1038/79116 |
0.407 |
|
| 2000 |
Clarke G, Héon E, McInnes RR. Recent advances in the molecular basis of inherited photoreceptor degeneration Clinical Genetics. 57: 313-329. PMID 10852366 DOI: 10.1034/J.1399-0004.2000.570501.X |
0.4 |
|
| 2000 |
Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 538-43. PMID 10766140 DOI: 10.1001/Archopht.118.4.538 |
0.399 |
|
| 2000 |
Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. European Journal of Human Genetics : Ejhg. 8: 71-4. PMID 10713890 DOI: 10.1038/Sj.Ejhg.5200354 |
0.416 |
|
| 2000 |
Williams-Lyn D, Flanagan J, Buys Y, Trope GE, Fingert J, Stone EM, Héon E. The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area. Canadian Journal of Ophthalmology-Journal Canadien D Ophtalmologie. 35: 12-17. PMID 10711378 DOI: 10.1016/S0008-4182(00)80103-9 |
0.434 |
|
| 1999 |
Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL. The gamma-crystallins and human cataracts: a puzzle made clearer. American Journal of Human Genetics. 65: 1261-7. PMID 10521291 DOI: 10.1086/302619 |
0.411 |
|
| 1999 |
Bovey EH, Fernandez-Ragaz A, Héon E, Balmer A, Munier FL. Rhegmatogenous retinal detachment after treatment of retinoblastoma. Ophthalmic Genetics. 20: 141-151. PMID 10520235 DOI: 10.1076/Opge.20.3.141.2283 |
0.403 |
|
| 1999 |
Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy Nature Genetics. 22: 199-202. PMID 10369267 DOI: 10.1038/9722 |
0.498 |
|
| 1999 |
Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Human Molecular Genetics. 8: 899-905. PMID 10196380 DOI: 10.1093/Hmg/8.5.899 |
0.395 |
|
| 1999 |
Millá E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL. Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa. Ophthalmic Genetics. 19: 131-9. PMID 9810568 DOI: 10.1076/Opge.19.3.131.2183 |
0.471 |
|
| 1998 |
Budning AS, Heon E, Gallie BL. Visual prognosis of Coats' disease. Journal of Aapos. 2: 356-359. PMID 10532724 DOI: 10.1016/S1091-8531(98)90034-9 |
0.385 |
|
| 1998 |
Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, et al. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. American Journal of Human Genetics. 62: 593-8. PMID 9497254 DOI: 10.1086/301757 |
0.424 |
|
| 1996 |
Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genetics. 17: 175-86. PMID 9010868 DOI: 10.3109/13816819609057891 |
0.47 |
|
| 1996 |
Munier FL, Thonney F, Balmer A, Héon E, Pescia G, Schorderet DF. Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling. Klinische Monatsblatter Fur Augenheilkunde. 208: 400-403. PMID 8766064 DOI: 10.1055/S-2008-1035252 |
0.392 |
|
| 1995 |
Héon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Linkage of posterior polymorphous corneal dystrophy to 20q11. Human Molecular Genetics. 4: 485-8. PMID 7795607 DOI: 10.1093/Hmg/4.3.485 |
0.349 |
|
| 1995 |
Piguet B, Munier FL, Héon E, Pescia G, Schorderet DF, Stone E. 4122 Zermatt macular dystrophy: a new autosomal dominant phenotype and exclusion of known macular genes Vision Research. 35. DOI: 10.1016/0042-6989(95)90365-8 |
0.398 |
|
| 1994 |
Sigesmund DA, Weleber RG, Pillers DAM, Westall CA, Panton CM, Powell BR, Heon E, Murphey WH, Musarella MA, Ray PN. Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy Ophthalmology. 101: 856-865. PMID 8190471 DOI: 10.1016/S0161-6420(13)31249-4 |
0.404 |
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