Publications:

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Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications

de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP

Publication Date: 2023-04-08

Variant appearance in text: ABCA4: W69*

PubMed Link: 37031196

Variant Present in the following documents:

• 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6

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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: W69X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 206G>A; Trp69*

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Correlation between Choriocapillaris Density and Retinal Sensitivity in Stargardt Disease.

Journal Of Clinical Medicine

Mastropasqua, Rodolfo R; Senatore, Alfonso A; Di Antonio, Luca L; Di Nicola, Marta M; Marchioni, Michele M; Perna, Fabiana F; Amore, Filippo F; Borrelli, Enrico E; De Nicola, Chiara C; Carpineto, Paolo P; Toto, Lisa L

Publication Date: 2019-09-10

Variant appearance in text: ABCA4: 206G>A

PubMed Link: 31510083

Variant Present in the following documents:

• Main text
• jcm-08-01432.pdf

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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P

Publication Date: 2018-03-19

Variant appearance in text: ABCA4: 206G>A

PubMed Link: 29555955

Variant Present in the following documents:

• 41598_2018_22096_MOESM1_ESM.pdf

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science

Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H

Publication Date: 2017-01-01

Variant appearance in text: STGD: 206G>A

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s04.pdf
• iovs-57-15-69_s05.pdf

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