Selected Publications

Moreno-Leon L; West EL; O'Hara-Wright M; Li L; Nair R; He J; Anand M; Sahu B; Chavali VRM; Smith AJ; Ali RR; Jacobson SG; Cideciyan AV; Khanna H : RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP). Human Molecular Genetics 29(22): 3706-3716, Jan 2021.

Semenov EP; Sheplock R; Roman AJ; McGuigan DB; Swider M; Cideciyan AV; Jacobson SG : Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial. Translational Vision Science & Technology 9(13): 13, Dec 2020.

Song C; Dufour VL; Cideciyan AV; Ye GJ; Swider M; Newmark JA; Timmers AM; Robinson PM; Knop DR; Chulay JD; Jacobson SG; Aguirre GD; Beltran WA; Shearman MS : Dose Range Finding Studies with Two RPGR Transgenes in a Canine Model of X-Linked Retinitis Pigmentosa Treated with Subretinal Gene Therapy. Human Gene Therapy 31(13-14): 743-755, Jul 2020.

Cideciyan AV; Jacobson SG; Roman AJ; Sumaroka A; Wu V; Charng J; Lisi B; Swider M; Aguirre GD; Beltran WA : Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations. Scientific Reports 10(1), Jul 2020.

Krishnan AK; Jacobson SG; Roman AJ; Iyer BS; Garafalo AV; Heon E; Cideciyan AV: Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function. Vision Research 168: 53-63, Mar 2020.

Dufour VL; Cideciyan AV; Ye GJ; Song C; Timmers A; Habecker PL; Pan W; Weinstein NM; Swider M; Durham AC; Ying GS; Robinson PM; Jacobson SG; Knop DR; Chulay JD; Shearman MS; Aguirre GD; Beltran WA : Toxicity and Efficacy Evaluation of an Adeno-Associated Virus Vector Expressing Codon-Optimized RPGR Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis Pigmentosa. Human Gene Therapy 31(3-4): 253-267, Feb 2020.

Weisschuh N; Sturm M; Baumann B; Audo I; Ayuso C; Bocquet B; Branham K; Brooks BP; Catala-Mora J; Giorda R; Heckenlively JR; Hufnagel RB; Jacobson SG; Kellner U; Kitsiou-Tzeli S; Matet A; Martorell Sampol L; Meunier I; Rudolph G; Sharon D; Stingl K; Streubel B; Varsanyi B; Wissinger B; Kohl S: Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Human Mutation 41(1): 255-264, Jan 2020.

Gardiner KL; Cideciyan AV; Swider M; Dufour VL; Sumaroka A; Komaromy AM; Hauswirth WW; Iwabe S; Jacobson SG; Beltran WA; Aguirre GD : Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy. Molecular Therapy: the Journal of the American Society of Gene Therapy 28(1): 266-278, Jan 2020.

Sumaroka A; Cideciyan AV; Sheplock R; Wu V; Kohl S; Wissinger B; Jacobson SG: Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence. Frontiers in Neuroscience 14, 2020.

Felden J; Baumann B; Ali M; Audo I; Ayuso C; Bocquet B; Casteels I; Garcia-Sandoval B; Jacobson SG; Jurklies B; Kellner U; Kessel L; Lorenz B; McKibbin M; Meunier I; de Ravel T; Rosenberg T; Ruther K; Vadala M; Wissinger B; Stingl K; Kohl S: Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human Mutation 40(8): 1145-1155, Aug 2019.