Publications:

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Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences

Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS

Publication Date: 2020-12-27

Variant appearance in text: ABCA4: G851D

PubMed Link: 33375396

Variant Present in the following documents:

• Main text
• ijms-22-00185.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: G851D

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Lessons learned from quantitative fundus autofluorescence.

Progress In Retinal And Eye Research

Sparrow, Janet R JR; Duncker, Tobias T; Schuerch, Kaspar K; Paavo, Maarjaliis M; de Carvalho, Jose Ronaldo Lima JRL

Publication Date: 2020-01

Variant appearance in text: ABCA4: G851D

PubMed Link: 31472235

Variant Present in the following documents:

• Main text

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ABCA4: G851D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal Of Medical Genetics

Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2017-06

Variant appearance in text: ABCA4: 2552G>A

PubMed Link: 28446513

Variant Present in the following documents:

• Main text

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Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Verdina, Tommaso T; Greenstein, Vivienne C VC; Sodi, Andrea A; Tsang, Stephen H SH; Burke, Tomas R TR; Passerini, Ilaria I; Allikmets, Rando R; Virgili, Gianni G; Cavallini, Gian Maria GM; Rizzo, Stanislao S

Publication Date: 2017-07

Variant appearance in text: ABCA4: 2552G>A

PubMed Link: 28365912

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: STGD1: G851D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.

Investigative Ophthalmology & Visual Science

Duncker, Tobias T; Stein, Gregory E GE; Lee, Winston W; Tsang, Stephen H SH; Zernant, Jana J; Bearelly, Srilaxmi S; Hood, Donald C DC; Greenstein, Vivienne C VC; Delori, François C FC; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2015-11

Variant appearance in text: STGD1: G851D

PubMed Link: 26551331

Variant Present in the following documents:

• Main text

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: G851D

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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Fundus autofluorescence applications in retinal imaging.

Indian Journal Of Ophthalmology

Gabai, Andrea A; Veritti, Daniele D; Lanzetta, Paolo P

Publication Date: 2015-05

Variant appearance in text: STGD1: G851D

PubMed Link: 26139802

Variant Present in the following documents:

• Main text
• IJO-63-406.pdf

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Quantitative fundus autofluorescence in recessive Stargardt disease.

Investigative Ophthalmology & Visual Science

Burke, Tomas R TR; Duncker, Tobias T; Woods, Russell L RL; Greenberg, Jonathan P JP; Zernant, Jana J; Tsang, Stephen H SH; Smith, R Theodore RT; Allikmets, Rando R; Sparrow, Janet R JR; Delori, François C FC

Publication Date: 2014-05-01

Variant appearance in text: ABCA4: G851D

PubMed Link: 24677105

Variant Present in the following documents:

• Main text

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Next-generation genetic testing for retinitis pigmentosa.

Human Mutation

Neveling, Kornelia K; Collin, Rob W J RW; Gilissen, Christian C; van Huet, Ramon A C RA; Visser, Linda L; Kwint, Michael P MP; Gijsen, Sabine J SJ; Zonneveld, Marijke N MN; Wieskamp, Nienke N; de Ligt, Joep J; Siemiatkowska, Anna M AM; Hoefsloot, Lies H LH; Buckley, Michael F MF; Kellner, Ulrich U; Branham, Kari E KE; den Hollander, Anneke I AI; Hoischen, Alexander A; Hoyng, Carel C; Klevering, B Jeroen BJ; van den Born, L Ingeborgh LI; Veltman, Joris A JA; Cremers, Frans P M FP; Scheffer, Hans H

Publication Date: 2012-06

Variant appearance in text: ABCA4: 2552G>A

PubMed Link: 22334370

Variant Present in the following documents:

• humu0033-0963-sd1.pdf

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