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Dr. Héon’s current research focusses on the genetic characterization of inherited retinal disorders when clinical genetic testing did not identify the disease-causing variant(s). Using Genome sequencing and sophisticated analytical protocol, her group has been successful in deciphering nearly 80% of cases. Dr. Héon has a specific interest in disease cause by genes affecting cilia, ciliopathy, namely Bardet Biedl syndrome. Using cells from patients and high throughput drug screening through the SPARC facility, her groups is trying to identify small molecules that may improve patient outcome. Lastly, Dr. Héon is exploring patient reported outcome measures (PROM) for IRD and especially in children, which would best represent the impact of the visual impairment on the patient daily living.
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论文共 411 篇作者统计合作学者相似作者
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Investigative ophthalmology & visual scienceno. 15 (2023): 33-33
Kavin Selvan,Rebhi Abuzaitoun,Maria Abalem,Ajoy Vincent,Chris Andrews,Gabrielle Lacy, Rafid Farjo, Karissa Kao, Krystal Kao,Gislin Dagnelie,David Musch,K. Jayasundera,
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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Elise Heon,Michele Melia,Laura E Bocchino, Lassana Samarakoon,Jacque L Duncan, Allison R Ayala,Isabelle Audo,Chris Bradley,Janet K Cheetham,Gislin Dagnelie,Todd A Durham,Carel B Hoyng,
American journal of ophthalmology (2023): 200-211
Alaa Tayyib, Rowaida Hussein,Anupreet Tumber, Kashif Ahmed,Erika Tavares,Chantal Morel,Graeme Nimmo, Mark Tarnopolsy,Elise Heon,Ajoy Vincent
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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American Journal of Ophthalmology (2023): 200-211
The British journal of ophthalmologypp.bjo-323640, (2023)
Kavin Selvan,Rebhi Abuzaitoun,Maria Fernanda Abalem,Ajoy Vincent,Chris A. A. Andrews,Gabrielle D. D. Lacy, Rafid Farjo, Karissa Kao, Krystal Kao,Gislin Dagnelie,David C. C. Musch,K. Thiran Jayasundera,
OPHTHALMIC GENETICSno. 3 (2023): 218-225
Canadian Eye Care Today (2023)
Human Genetics and Genomics Advancesno. 2 (2023): 100181-100181
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