Publications:

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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: 6448T>C; Cys2150Arg

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

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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: 6448T>C; C2150R

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: C2150R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.

American Journal Of Ophthalmology

Oh, Jin Kyun JK; Ryu, Joseph J; Lima de Carvalho, Jose Ronaldo JR; Levi, Sarah R SR; Lee, Winston W; Tsamis, Emmanouil E; Greenstein, Vivienne C VC; Mahajan, Vinit B VB; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2020-10

Variant appearance in text: ABCA4: 6448T>C

PubMed Link: 32445700

Variant Present in the following documents:

• Main text

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ABCA4: 6448T>C; Cys2150Arg; rs61750656

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: C2150R

PubMed Link: 29847651

Variant Present in the following documents:

• i1552-5783-59-6-2459.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CORD3: C2150R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: C2150R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

Investigative Ophthalmology & Visual Science

Duncker, Tobias T; Marsiglia, Marcela M; Lee, Winston W; Zernant, Jana J; Tsang, Stephen H SH; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2014-10-23

Variant appearance in text: ABCA4: C2150R

PubMed Link: 25342616

Variant Present in the following documents:

• Main text

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Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

Investigative Ophthalmology & Visual Science

Nõupuu, Kalev K; Lee, Winston W; Zernant, Jana J; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2014-10-09

Variant appearance in text: ABCA4: C2150R

PubMed Link: 25301883

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Ophthalmology

Duncker, Tobias T; Tsang, Stephen H SH; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Delori, François C FC; Sparrow, Janet R JR

Publication Date: 2015-02

Variant appearance in text: ABCA4: C2150R

PubMed Link: 25283059

Variant Present in the following documents:

• Main text

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Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.

Investigative Ophthalmology & Visual Science

Testa, Francesco F; Rossi, Settimio S; Sodi, Andrea A; Passerini, Ilaria I; Di Iorio, Valentina V; Della Corte, Michele M; Banfi, Sandro S; Surace, Enrico Maria EM; Menchini, Ugo U; Auricchio, Alberto A; Simonelli, Francesca F

Publication Date: 2012-07-03

Variant appearance in text: STGD: C2150R

PubMed Link: 22661472

Variant Present in the following documents:

• Main text

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