|
Barrasso, Anthony P; Wang, Shang; Tong, Xuefei et al. (2018) Live imaging of developing mouse retinal slices. Neural Dev 13:23
|
|
Eblimit, Aiden; Zaneveld, Smriti Agrawal; Liu, Wei et al. (2018) NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res 173:32-43
|
|
Barrasso, Anthony P; Tong, Xuefei; Poché, Ross A (2018) The mito::mKate2 mouse: A far-red fluorescent reporter mouse line for tracking mitochondrial dynamics in vivo. Genesis 56:
|
|
Agrawal, Smriti A; Burgoyne, Thomas; Eblimit, Aiden et al. (2017) REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet 26:2667-2677
|
|
Porto, Fernanda B O; Jones, Evan M; Branch, Justin et al. (2017) Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes (Basel) 8:
|
|
Galaz-Montoya, Monica; Wright, Sara J; Rodriguez, Gustavo J et al. (2017) ?2-Adrenergic receptor activation mobilizes intracellular calcium via a non-canonical cAMP-independent signaling pathway. J Biol Chem 292:9967-9974
|
|
Hull, Sarah; Arno, Gavin; Ku, Cristy A et al. (2016) Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol 134:753-62
|
|
Boone, Philip M; Yuan, Bo; Gu, Shen et al. (2016) Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med 4:77-94
|
|
Zaneveld, Jacques; Siddiqui, Sorath; Li, Huajin et al. (2015) Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med 17:262-70
|
|
Salvo, Jason; Lyubasyuk, Vera; Xu, Mingchu et al. (2015) Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci 56:1937-46
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