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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 2
1994 1
1995 4
1996 4
1997 2
1998 7
1999 4
2000 9
2001 11
2002 9
2003 11
2004 6
2005 6
2006 6
2007 7
2008 13
2009 15
2010 9
2011 12
2012 9
2013 7
2014 5
2015 13
2016 16
2017 18
2018 9
2019 13
2020 16
2021 7
2022 13
2023 8
2024 2

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243 results

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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: heon e. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Shedding light on myopia by studying complete congenital stationary night blindness.
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, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S. Zeitz C, et al. Among authors: heon e. Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19. Prog Retin Eye Res. 2023. PMID: 36669906 Free article. Review.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
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, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: heon e. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
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. Lionel AC, et al. Among authors: heon e. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
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. Lenassi E, et al. Among authors: heon e. Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649381 Free PMC article.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: heon e. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B, Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M. de Guimaraes TAC, et al. Among authors: heon e. Br J Ophthalmol. 2023 Oct 18:bjo-2023-323640. doi: 10.1136/bjo-2023-323640. Online ahead of print. Br J Ophthalmol. 2023. PMID: 37852740 Free article.
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.
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, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: heon e. Transl Vis Sci Technol. 2020 Jun 3;9(7):2. doi: 10.1167/tvst.9.7.2. eCollection 2020 Jun. Transl Vis Sci Technol. 2020. PMID: 32832209 Free PMC article. Review.
A molecular perspective on corneal dystrophies.
Vincent AL, Rootman D, Munier FL, Héon E. Vincent AL, et al. Among authors: heon e. Dev Ophthalmol. 2003;37:50-66. doi: 10.1159/000072038. Dev Ophthalmol. 2003. PMID: 12876829 Review.
243 results