Publications:

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Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.

Cancer Science

Tamura, Ryo R; Nakaoka, Hirofumi H; Yachida, Nozomi N; Ueda, Haruka H; Ishiguro, Tatsuya T; Motoyama, Teiichi T; Inoue, Ituro I; Enomoto, Takayuki T; Yoshihara, Kosuke K

Publication Date: 2023-02-10

Variant appearance in text: RD3: 500G>A; Arg167Lys

PubMed Link: 36762791

Variant Present in the following documents:

• CAS-114-2145-s001.xlsx, sheet 9

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: RD3: R167K

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs74782684

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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: rs74782684

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: RD3: R167K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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RD3: a challenge and a promise.

Jsm Biotechnology & Biomedical Engineering

Azadi, Seifollah S

Publication Date: 2013

Variant appearance in text: RD3: R167K

PubMed Link: 25679013

Variant Present in the following documents:

• Main text

View BVdb publication page

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Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Plos One

Perrault, Isabelle I; Estrada-Cuzcano, Alejandro A; Lopez, Irma I; Kohl, Susanne S; Li, Shiqiang S; Testa, Francesco F; Zekveld-Vroon, Renate R; Wang, Xia X; Pomares, Esther E; Andorf, Jean J; Aboussair, Nisrine N; Banfi, Sandro S; Delphin, Nathalie N; den Hollander, Anneke I AI; Edelson, Catherine C; Florijn, Ralph R; Jean-Pierre, Marc M; Leowski, Corinne C; Megarbane, Andre A; Villanueva, Cristina C; Flores, Blanca B; Munnich, Arnold A; Ren, Huanan H; Zobor, Ditta D; Bergen, Arthur A; Chen, Rui R; Cremers, Frans P M FP; Gonzalez-Duarte, Roser R; Koenekoop, Robert K RK; Simonelli, Francesca F; Stone, Edwin E; Wissinger, Bernd B; Zhang, Qingjiong Q; Kaplan, Josseline J; Rozet, Jean-Michel JM

Publication Date: 2013

Variant appearance in text: RD3: 500G>A; rs74782684

PubMed Link: 23308101

Variant Present in the following documents:

• Main text
• pone.0051622.pdf

View BVdb publication page

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Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

American Journal Of Human Genetics

Friedman, James S JS; Chang, Bo B; Kannabiran, Chitra C; Chakarova, Christina C; Singh, Hardeep P HP; Jalali, Subhadra S; Hawes, Norman L NL; Branham, Kari K; Othman, Mohammad M; Filippova, Elena E; Thompson, Debra A DA; Webster, Andrew R AR; Andréasson, Sten S; Jacobson, Samuel G SG; Bhattacharya, Shomi S SS; Heckenlively, John R JR; Swaroop, Anand A

Publication Date: 2006-12

Variant appearance in text:

PubMed Link: 17186464

Variant Present in the following documents:

• Main text

View BVdb publication page

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