Publications:

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A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight

Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Thr1117Ile

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.pdf
• jciinsight-7-156154-s174.xlsx, sheet 1

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: 3350C>T; T1117I

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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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: T1117I

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Bmc Genomics

Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW

Publication Date: 2014-08-23

Variant appearance in text: ABCA4: 3350C>T

PubMed Link: 25151476

Variant Present in the following documents:

• 12864_2013_6386_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The external limiting membrane in early-onset Stargardt disease.

Investigative Ophthalmology & Visual Science

Lee, Winston W; Nõupuu, Kalev K; Oll, Maris M; Duncker, Tobias T; Burke, Tomas T; Zernant, Jana J; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2014-08-19

Variant appearance in text: ABCA4: T1117I

PubMed Link: 25139735

Variant Present in the following documents:

• Main text

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Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science

Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R

Publication Date: 2011-10-31

Variant appearance in text: ABCA4: 3350C>T

PubMed Link: 21911583

Variant Present in the following documents:

• Main text

View BVdb publication page

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