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Author/Creator Heon, Elise

1. A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype. Issue 8 (2nd November 2021)

Authors:
Occelli, Laurence M; Daruwalla, Anahita; De Silva, Samantha R; Winkler, Paige A; Sun, Kelian; Pasmanter, Nathaniel; Minella, Andrea; Querubin, Janice; Lyons, Leslie A; Robson, Anthony G; Heon, Elise; Michaelides, Michel; Webster, Andrew R; Palczewski, Krzysztof; Vincent, Ajoy; Mahroo, Omar A; Kis...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 8(2022)
Page Start:
1263
Record Type:
Journal Article
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2. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. Issue 9 (25th July 2017)

Authors:
Chaudhry, Ayeshah; Chung, Brian H.; Stavropoulos, Dimitri J.; Araya, Marcela P.; Ali, Asim; Heon, Elise; Chitayat, David
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 9(2017)
Page Start:
2467
Record Type:
Journal Article
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3. Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease. Issue 2 (4th December 2018)

Authors:
Scott, Benjamin M; Chen, Steven K; Bhattacharyya, Nihar; Moalim, Abdiwahab Y; Plotnikov, Sergey V; Heon, Elise; Peisajovich, Sergio G; Chang, Belinda S W
Journal:
Genetics
Issue:
Volume 211:Issue 2(2019)
Page Start:
597
Record Type:
Journal Article
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4. Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa. Issue 6 (14th August 2022)

Authors:
Dvaladze, Anna; Tavares, Erika; Di Scipio, Matteo; Nimmo, Graeme; Grudzinska‐Pechhacker, Monika K.; Paton, Tara; Tumber, Anupreet; Li, Shuning; Eileen, Christabel; Ertl‐Wagner, Birgit; Mamak, Eva; Hoffmann, Georg; Marshall, Christian R.; Haas, Dorothea; Mayatepek, Ertan; Schulze, Andreas; Heon, E...
Journal:
Clinical genetics
Issue:
Volume 102:Issue 6(2022)
Page Start:
524
Record Type:
Journal Article
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5. Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations. Issue 1 (26th October 2012)

Authors:
Rootman, Daniel Benson; Gonzalez, Efren; Mallipatna, Ashwin; VandenHoven, Cynthia; Hampton, Lindsay; Dimaras, Helen; Chan, Helen S L; Gallie, Brenda L; Heon, Elise
Journal:
British journal of ophthalmology
Issue:
Volume 97:Issue 1(2013)
Page Start:
59
Record Type:
Journal Article
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6. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. (February 2023)

Authors:
Cideciyan, Artur V.; Jacobson, Samuel G.; Sumaroka, Alexander; Swider, Malgorzata; Krishnan, Arun K.; Sheplock, Rebecca; Garafalo, Alexandra V.; Guziewicz, Karina E.; Aguirre, Gustavo D.; Beltran, William A.; Matsui, Yoshitsugu; Kondo, Mineo; Heon, Elise
Journal:
Vision research
Issue:
Volume 203(2023)
Page Start:
Record Type:
Journal Article
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9. Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study. Issue 5 (21st March 2022)

Authors:
Hufnagel, Robert B.; Liang, Wendi; Duncan, Jacque L.; Brewer, Carmen C.; Audo, Isabelle; Ayala, Allison R.; Branham, Kari; Cheetham, Janet K.; Daiger, Stephen P.; Durham, Todd A.; Guan, Bin; Heon, Elise; Hoyng, Carel B.; Iannaccone, Alessandro; Kay, Christine N.; Michaelides, Michel; Pennesi, Mar...
Journal:
Human mutation
Issue:
Volume 43:Issue 5(2022)
Page Start:
613
Record Type:
Journal Article
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