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Co-Authors

This is a "connection" page, showing publications co-authored by Elise Heon and Ajoy Vincent.

 
Connection Strength
 
 
 
1.438
 
  1. 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 CACNA1F-related Congenital Stationary Night Blindness. Genes (Basel). 2021 02 25; 12(3).
    View in: PubMed
    Score: 0.239
  2. 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. Eur J Med Genet. 2020 Nov; 63(11):104037.
    View in: PubMed
    Score: 0.231
  3. 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, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawinski P, Ploski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genet Med. 2020 12; 22(12):2041-2051.
    View in: PubMed
    Score: 0.230
  4. Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Unique retinal signaling defect in GNB5-related disease. Doc Ophthalmol. 2020 06; 140(3):273-277.
    View in: PubMed
    Score: 0.219
  5. 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). Hum Mol Genet. 2016 06 01; 25(11):2283-2294.
    View in: PubMed
    Score: 0.170
  6. 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. Sci Rep. 2020 12 04; 10(1):21269.
    View in: PubMed
    Score: 0.059
  7. Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, Cheetham JK, Durham TA, Fahim AT, Ferris FL, Heon E, Huckfeldt RM, Iannaccone A, Khan NW, Lad EM, Michaelides M, Pennesi ME, Stingl K, Vincent A, Weng CY. The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol. 2020 10; 9(11):9.
    View in: PubMed
    Score: 0.058
  8. 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. Am J Ophthalmol. 2018 04; 188:123-130.
    View in: PubMed
    Score: 0.048
  9. 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. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443.
    View in: PubMed
    Score: 0.047
  10. 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. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Invest Ophthalmol Vis Sci. 2017 08 01; 58(10):3840-3850.
    View in: PubMed
    Score: 0.047
  11. 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. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. JAMA Ophthalmol. 2017 07 01; 135(7):749-760.
    View in: PubMed
    Score: 0.046
  12. 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. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 03 16; 129(11):1557-1562.
    View in: PubMed
    Score: 0.045
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.