Elise Heon (E Héon, Elise Héon)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 12

Top Venues

The British journal of ophthalmology

Eye (London, England)

Clinical genetics

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Austin D Igelman, Elizabeth White, Alaa Tayyib, Lesley A Everett, Ajoy Vincent, Elise Heon, Christina Zeitz, Michel Michaelides, Omar A Mahroo, Mohamed Katta, Andrew Webster, Markus Preising, Birgit Lorenz, Samer Khateb, Eyal Banin, Dror Sharon, Shahar Luski, Filip Van Den Broeck, Bart Peter Leroy, Elfride De Baere, Sophie Walraedt, Katarina Stingl, Laura Kuehlewein, Susanne Kohl, Milda Reith, Anne Fulton, Aparna Raghuram, Isabelle Meunier, Hélène Dollfus, Tomas S Aleman, Emma C Bedoukian, Erin C O'Neil, Emily Krauss, Andrea L Vincent, Charlotte Jordan, Alessandro Iannaccone, Parveen Sen, Srilekha Sundaramurthy, Soumittra Nagasamy, Irina Balikova, Ingele Casteels, Shyamanga Borooah, Shaden Yassin, Aaron Nagiel, Hillary Schwartz, Xavier Zanlonghi, Irene Gottlob, Rebecca J McLean, Francis L Munier, Andrew Stephenson, Robert Sisk, Robert Koenekoop, Lorri B Wilson, Douglas Fredrick, Dongseok Choi, Paul Yang, Mark Edward Pennesi
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study. The British journal of ophthalmology (2024)
Brian G Ballios, Amarilla Mandola, Alaa Tayyib, Anupreet Tumber, Jenny Garkaby, Linda Vong, Elise Heon, Chaim M Roifman, Ajoy Vincent
Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. Eye (London, England) (2023)
Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Vargas, Alberta A H J Thiadens, Emanuel R de Carvalho, Xuan-Than-An Nguyen, Gavin Arno, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belén Jiménez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño Salas, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M Huckfeldt, Eyal Banin, Mark E Pennesi, Arif O Khan, Bernd Wissinger, Andrew R Webster, Elise Heon, Camiel J F Boon, Eberhard Zrenner, Michel Michaelides
KCNV2 -associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. The British journal of ophthalmology (2023)
Kavin Selvan, Rebhi Abuzaitoun, Maria Fernanda Abalem, Ajoy Vincent, Christopher A Andrews, Gabrielle Davis Lacy, Rafid Farjo, Karissa Kao, Krystal Kao, Gislin Dagnelie, David C Musch, Kanishka T Jayasundera, Elise Heon
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients. Ophthalmic genetics (2023)
Kavin Selvan, Maria F Abalem, Gabrielle D Lacy, Ajoy Vincent, Elise Heon
The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease. Ophthalmology and therapy 11 (3) (2022)
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K Grudzinska-Pechhacker, Tara Paton, Anupreet Tumber, Shuning Li, Christabel Eileen, Birgit Ertl-Wagner, Eva Mamak, Georg Hoffmann, Christian R Marshall, Dorothea Haas, Ertan Mayatepek, Andreas Schulze, Elise Heon, Ajoy Vincent
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa. Clinical genetics 102 (6) (2022)
Robert B Hufnagel, Wendi Liang, Jacque L Duncan, Carmen C Brewer, Isabelle Audo, Allison R Ayala, Kari Branham, Janet K Cheetham, Stephen P Daiger, Todd A Durham, Bin Guan, Elise Heon, Carel B Hoyng, Alessandro Iannaccone, Christine N Kay, Michel Michaelides, Mark E Pennesi, Mandeep S Singh, Ehsan Ullah, null null
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Human mutation 43 (5) (2022)
Melanie P Napier, Kavin Selvan, Robin Z Hayeems, Cheryl Shuman, David Chitayat, Joanne E Sutherland, Megan A Day, Elise Heon
Gene therapy: perspectives from young adults with Leber's congenital amaurosis. Eye (London, England) (2021)
Anjali Vig, James A Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T Maynes, Gabrielle Wheway, Gavin Arno, null null, Kamron N Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent, Michael E Cheetham, Chris F Inglehearn, Anthony Roberts, Elise Heon
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in medicine : official journal of the American College of Medical Genetics 22 (12) (2020)
J Moran, K G Sanderson, J Maynes, A Vig, V Batmanabane, Peter Kannu, E Tavares, A Vincent, Elise Heon
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration. Clinical genetics 94 (3-4) (2018)
Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise Heon
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. Molecular genetics & genomic medicine 7 (2) (2018)
Santhosh Dhanraj, Anna Matveev, Hongbing Li, Supanun Lauhasurayotin, Lawrence Jardine, Michaela Cada, Bozana Zlateska, Chetankumar S Tailor, Joseph Zhou, Roberto Mendoza-Londono, Ajoy Vincent, Peter R Durie, Stephen W Scherer, Johanna M Rommens, Elise Heon, Yigal Dror
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood 129 (11) (2017)

Elise Heon.css-eqlu8i{font-size:small;padding-left:4px;} (E Héon, Elise Héon)

Publication Activity (10 Years)

Top Topics

Top Venues

Elise Heon (E Héon, Elise Héon)