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Items: 1 to 50 of 201


Characterization of Retinal Structure in ATF6-Associated Achromatopsia.

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, Michaelides M, Carroll J.

Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047.


Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.

Drack AV, Miraldi Utz V, Wang K, Alcorn DM, Brooks BP, Costakos DM, Couser NL, Heon E, Levin AV, Lloyd IC, Morse CL, Schmitt MA, Whitman MC, Traboulsi EI.

J AAPOS. 2019 Jun 21. pii: S1091-8531(19)30129-6. doi: 10.1016/j.jaapos.2019.04.005. [Epub ahead of print]


Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

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, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B.

Front Physiol. 2019 Jun 4;10:688. doi: 10.3389/fphys.2019.00688. eCollection 2019.


Optic Disc Pulsation in a Morning Glory Disc Anomaly.

Hostovsky A, Mackeen LD, Heon E.

Ophthalmol Retina. 2019 Jun;3(6):534. doi: 10.1016/j.oret.2019.02.011. No abstract available.


Introducing Artur V. Cideciyan and Samuel G. Jacobson, the 2018 Recipients of the Proctor Medal.

Héon E, Aguirre GD.

Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1677-1679. doi: 10.1167/iovs.19-26884. No abstract available.


Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Scott BM, Chen SK, Bhattacharyya N, Moalim AY, Plotnikov SV, Heon E, Peisajovich SG, Chang BSW.

Genetics. 2019 Feb;211(2):597-615. doi: 10.1534/genetics.118.301733. Epub 2018 Dec 4.


Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.

Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E.

Mol Genet Genomic Med. 2019 Feb;7(2):e00521. doi: 10.1002/mgg3.521. Epub 2018 Nov 28.


Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

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.

Hum Mol Genet. 2019 Jan 1;28(1):175. doi: 10.1093/hmg/ddy342. No abstract available.


Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years.

Cideciyan AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4558-4566. doi: 10.1167/iovs.18-24931.


Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.

Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG.

Am J Ophthalmol. 2018 Sep;193:114-129. doi: 10.1016/j.ajo.2018.06.017. Epub 2018 Jun 25.


IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

Moran J, G Sanderson K, Maynes J, Vig A, Batmanabane V, Kannu P, Tavares E, Vincent A, Héon E.

Clin Genet. 2018 Oct;94(3-4):368-372. doi: 10.1111/cge.13408. Epub 2018 Jul 17.


BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.

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.

Proc Natl Acad Sci U S A. 2018 Mar 20;115(12):E2839-E2848. doi: 10.1073/pnas.1720662115. Epub 2018 Mar 5.


Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

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.

Am J Ophthalmol. 2018 Apr;188:123-130. doi: 10.1016/j.ajo.2018.01.029. Epub 2018 Feb 5.


Specific retinal phenotype in early IQCB1-related disease.

Vincent A, AlAli A, MacDonald H, VandenHoven C, Héon E.

Eye (Lond). 2018 Mar;32(3):646-651. doi: 10.1038/eye.2017.283. Epub 2017 Dec 8.


Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.

Stäubli A, Capatina N, Fuhrer Y, Munier FL, Labs S, Schorderet DF, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo SMR, Kloeckener-Gruissem B.

Hum Mol Genet. 2017 Nov 1;26(21):4203-4214. doi: 10.1093/hmg/ddx310.


Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

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, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.


C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

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, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W.

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597.


Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Chaudhry A, Chung BH, Stavropoulos DJ, Araya MP, Ali A, Heon E, Chitayat D.

Am J Med Genet A. 2017 Sep;173(9):2467-2471. doi: 10.1002/ajmg.a.38321. Epub 2017 Jul 25.


EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG.

Genes (Basel). 2017 Jul 12;8(7). pii: E178. doi: 10.3390/genes8070178.


Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.

Charng J, Jacobson SG, Heon E, Roman AJ, McGuigan DB 3rd, Sheplock R, Kosyk MS, Swider M, Cideciyan AV.

Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3215-3224. doi: 10.1167/iovs.17-21909.


Reply to Letter: "Hey, I Just Did a Better Operation! Toward an IDEAL Innovation Model".

Wright JG, Shaul RZ, Héon E, Langer JC, Law PW, Sagar SP.

Ann Surg. 2017 Jul;266(1):e9-e10. doi: 10.1097/SLA.0000000000001284. No abstract available.


Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

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, Raymond FL, Moore AT, Webster AR, Pennesi ME.

JAMA Ophthalmol. 2017 Jul 1;135(7):749-760. doi: 10.1001/jamaophthalmol.2017.1401.


Optical Coherence Tomography-Guided Decisions in Retinoblastoma Management.

Soliman SE, VandenHoven C, MacKeen LD, Héon E, Gallie BL.

Ophthalmology. 2017 Jun;124(6):859-872. doi: 10.1016/j.ophtha.2017.01.052. Epub 2017 Mar 18.


White orbital mass after enucleation for retinoblastoma: The power of illusion.

Soliman SE, Halliday W, Shaikh F, Chan H, Hèon E, Gallie BL.

Ophthalmic Genet. 2017 Dec;38(6):584-586. doi: 10.1080/13816810.2017.1300923. Epub 2017 Mar 17. No abstract available.


Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.

Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE.

Am J Ophthalmol. 2017 May;177:44-57. doi: 10.1016/j.ajo.2017.02.003. Epub 2017 Feb 16.


Psychosocial determinants for treatment decisions in familial retinoblastoma.

Soliman SE, Ulster A, MacDonald H, VandenHoven C, Toi A, Hèon E, Gallie B.

Ophthalmic Genet. 2017 Jul-Aug;38(4):392-394. doi: 10.1080/13816810.2016.1227458. Epub 2017 Jan 13. No abstract available.


Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

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, Dror Y.

Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. No abstract available.


Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ.

PLoS One. 2017 Jan 3;12(1):e0169215. doi: 10.1371/journal.pone.0169215. eCollection 2017.


Achromatopsia mutations target sequential steps of ATF6 activation.

Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH.

Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27.


Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

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.

Hum Mol Genet. 2016 Dec 15;25(24):5444-5459. doi: 10.1093/hmg/ddw361. Erratum in: Hum Mol Genet. 2019 Jan 1;28(1):175.


Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC.

Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. Epub 2016 Mar 22.


The role of MR imaging in investigating isolated pediatric nystagmus.

Batmanabane V, Heon E, Dai T, Muthusami P, Chen S, Reginald A, Radhakrishnan S, Shroff M.

Pediatr Radiol. 2016 Nov;46(12):1721-1727. Epub 2016 Aug 12.


The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

Kletke S, Batmanabane V, Dai T, Vincent A, Li S, Gordon KA, Papsin BC, Cushing SL, Héon E.

Clin Genet. 2017 Jul;92(1):26-33. doi: 10.1111/cge.12895. Epub 2017 Jan 16.


Prenatal versus Postnatal Screening for Familial Retinoblastoma.

Soliman SE, Dimaras H, Khetan V, Gardiner JA, Chan HS, Héon E, Gallie BL.

Ophthalmology. 2016 Dec;123(12):2610-2617. doi: 10.1016/j.ophtha.2016.08.027. Epub 2016 Oct 3.


Retinoblastoma versus advanced Coats' disease: Is enucleation the answer?

Soliman SE, Wan MJ, Heon E, Hazrati LN, Gallie B.

Ophthalmic Genet. 2017 May-Jun;38(3):291-293. doi: 10.1080/13816810.2016.1199715. Epub 2016 Jul 19. No abstract available.


Visual Function and Central Retinal Structure in Choroideremia.

Heon E, Alabduljalil T, McGuigan III DB, Cideciyan AV, Li S, Chen S, Jacobson SG.

Invest Ophthalmol Vis Sci. 2016 Jul 1;57(9):OCT377-87. doi: 10.1167/iovs.15-18421.


Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

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, Cremers FP, den Hollander AI, Héon E.

Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2637-46. doi: 10.1167/iovs.15-18281.


Using Balance Function to Screen for Vestibular Impairment in Children With Sensorineural Hearing Loss and Cochlear Implants.

Oyewumi M, Wolter NE, Heon E, Gordon KA, Papsin BC, Cushing SL.

Otol Neurotol. 2016 Aug;37(7):926-32. doi: 10.1097/MAO.0000000000001046.


Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.

Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.


Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O.

J Bone Miner Res. 2016 Aug;31(8):1577-85. doi: 10.1002/jbmr.2834. Epub 2016 Apr 4.


Intra-arterial Chemotherapy for Retinoblastoma: A Systematic Review.

Yousef YA, Soliman SE, Astudillo PPP, Durairaj P, Dimaras H, Chan HSL, Héon E, Gallie BL, Shaikh F.

JAMA Ophthalmol. 2016 May 1;134(5):584-591. doi: 10.1001/jamaophthalmol.2016.0244.


Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome.

Branfield Day L, Quammie C, Héon E, Bhan A, Batmanabane V, Dai T, Kamath BM.

Clin Genet. 2016 Apr;89(4):507-509. doi: 10.1111/cge.12684. Epub 2015 Nov 24. No abstract available.


North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

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, Scheetz TE, Fingert JH, Mullins RF, Tucker BA, Stone EM.

Ophthalmology. 2016 Jan;123(1):9-18. doi: 10.1016/j.ophtha.2015.10.006. Epub 2015 Oct 24.


A small grant funding program to promote innovation at an academic research hospital.

Orrell K, Yankanah R, Heon E, Wright JG.

Can J Surg. 2015 Oct;58(5):294-5.


Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.


IL-15 induces strong but short-lived tumor-infiltrating CD8 T cell responses through the regulation of Tim-3 in breast cancer.

Heon EK, Wulan H, Macdonald LP, Malek AO, Braunstein GH, Eaves CG, Schattner MD, Allen PM, Alexander MO, Hawkins CA, McGovern DW, Freeman RL, Amir EP, Huse JD, Zaltzman JS, Kauff NP, Meyers PG, Gleason MH, Overholtzer MG, Wiseman SS, Streutker CD, Asa SW, McAlindon TP, Newcomb PO, Sorensen PM, Press OA.

Biochem Biophys Res Commun. 2015 Aug 14;464(1):360-6. doi: 10.1016/j.bbrc.2015.06.162. Epub 2015 Jun 30.


Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

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, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH.

Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1.


Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

Kerr EN, Bhan A, Héon E.

Clin Genet. 2016 Apr;89(4):426-433. doi: 10.1111/cge.12614. Epub 2015 Jun 16.


Improvement and decline in vision with gene therapy in childhood blindness.

Jacobson SG, Cideciyan AV, Roman AJ, Sumaroka A, Schwartz SB, Heon E, Hauswirth WW.

N Engl J Med. 2015 May 14;372(20):1920-6. doi: 10.1056/NEJMoa1412965. Epub 2015 May 3.


Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.

Bourgault S, Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, Colleaux KM, Laliberté I.

Br J Ophthalmol. 2015 Nov;99(11):1536-42. doi: 10.1136/bjophthalmol-2014-305897. Epub 2015 Apr 29.


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