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Author/Creator Thompson, Jennifer A.

4. Characterising splicing defects of ABCA4 variants within exons 13–50 in patient-derived fibroblasts. (December 2022)

Authors:
Huang, Di; Thompson, Jennifer A.; Chen, Shang-Chih; Adams, Abbie; Pitout, Ianthe; Lima, Alanis; Zhang, Dan; Jeffery, Rachael C. Heath; Attia, Mary S.; McLaren, Terri L.; Lamey, Tina M.; De Roach, John N.; McLenachan, Samuel; Aung-Htut, May Thandar; Fletcher, Sue; Wilton, Steve D.; Chen, Fred K.
Journal:
Experimental eye research
Issue:
Volume 225(2022)
Page Start:
Record Type:
Journal Article
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5. Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants. Issue 11 (15th September 2020)

Authors:
Zhang, Xiao; Thompson, Jennifer A.; Zhang, Dan; Charng, Jason; Arunachalam, Sukanya; McLaren, Terri L.; Lamey, Tina M.; De Roach, John N.; Jennings, Luke; McLenachan, Samuel; Chen, Fred K.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants. Issue 11 (15th September 2020)

Authors:
Zhang, Xiao; Thompson, Jennifer A.; Zhang, Dan; Charng, Jason; Arunachalam, Sukanya; McLaren, Terri L.; Lamey, Tina M.; De Roach, John N.; Jennings, Luke; McLenachan, Samuel; Chen, Fred K.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE. Issue 12 (8th December 2021)

Authors:
Heath Jeffery, Rachael C.; Thompson, Jennifer A.; Lamey, Tina M.; McLaren, Terri L.; McAllister, Ian L.; Constable, Ian J.; Mackey, David A.; De Roach, John N.; Chen, Fred K.
Journal:
Retina
Issue:
Volume 41:Issue 12(2021)
Page Start:
2578
Record Type:
Journal Article
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8. CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE. Issue 12 (December 2021)

Authors:
Heath Jeffery, Rachael C.; Thompson, Jennifer A.; Lamey, Tina M.; McLaren, Terri L.; McAllister, Ian L.; Constable, Ian J.; Mackey, David A.; De Roach, John N.; Chen, Fred K.
Journal:
Retina
Issue:
Volume 41:Issue 12(2021)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. (4th May 2021)

Authors:
Huang, Zhiqin; Zhang, Dan; Thompson, Jennifer A.; Jamuar, Saumya S.; Roshandel, Danial; Jennings, Luke; Mellough, Carla; Charng, Jason; Chen, Shang-Chih; McLaren, Terri L.; Lamey, Tina M.; Chelva, Enid; De Roach, John N.; Chan, Choi Mun; McLenachan, Samuel; Chen, Fred K.
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 3(2021)
Page Start:
266
Record Type:
Journal Article
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10. Effects of multidisciplinary therapy on physical function in Huntington's disease. (30th July 2018)

Authors:
Cruickshank, Travis M.; Reyes, Alvaro P.; Penailillo, Luis E.; Pulverenti, Tim; Bartlett, Danielle M.; Zaenker, Pauline; Blazevich, Anthony J.; Newton, Robert U.; Thompson, Jennifer A.; Lo, Johnny; Ziman, Mel R.
Journal:
Acta neurologica Scandinavica
Issue:
Volume 138:Number 6(2018)
Page Start:
500
Record Type:
Journal Article
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