Publications:

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Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.

Translational Vision Science & Technology

Greenstein, Vivienne C VC; Castillejos, David S DS; Tsang, Stephen H SH; Lee, Winston W; Sparrow, Janet R JR; Allikmets, Rando R; Birch, David G DG; Hood, Donald C DC

Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 1844T>C; Val615Ala

PubMed Link: 37126335

Variant Present in the following documents:

• Main text
• tvst-12-5-2_s001.pdf
• tvst-12-5-2.pdf

View BVdb publication page

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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports

Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S

Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 1844T>C; Val615Ala

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 1844T>C; Val615Ala

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.pdf

View BVdb publication page

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Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 1844T>C

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

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Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 1844T>C

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

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Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology

Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2021-01

Variant appearance in text: ABCA4: 1844T>C; V615A

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

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Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.

Translational Vision Science & Technology

Melillo, Paolo P; Prinster, Anna A; Di Iorio, Valentina V; Olivo, Gaia G; D'Alterio, Francesco Maria FM; Cocozza, Sirio S; Quarantelli, Mario M; Testa, Francesco F; Brunetti, Arturo A; Simonelli, Francesca F

Publication Date: 2020-05

Variant appearance in text: STGD1: V615A

PubMed Link: 32821503

Variant Present in the following documents:

• Main text

View BVdb publication page

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Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.

Investigative Ophthalmology & Visual Science

Jauregui, Ruben R; Cho, Ahra A; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-04-09

Variant appearance in text: ABCA4: 1844T>C; V615A

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

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Multi-platform imaging in ABCA4-Associated Disease.

Scientific Reports

Chen, Lijuan L; Lee, Winston W; de Carvalho, Jose Ronaldo Lima JRL; Chang, Stanley S; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2019-04-23

Variant appearance in text: ABCA4: V615A

PubMed Link: 31015497

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42772.pdf

View BVdb publication page

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Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Investigative Ophthalmology & Visual Science

Paavo, Maarjaliis M; Zhao, Jin J; Kim, Hye Jin HJ; Lee, Winston W; Zernant, Jana J; Cai, Carolyn C; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2018-05-01

Variant appearance in text: STGD1: V615A

PubMed Link: 29847651

Variant Present in the following documents:

• i1552-5783-59-6-2459.pdf

View BVdb publication page

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