Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: LRP2: 5702C>G; Ala1901Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: LRP2: A1901G

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: LRP2: A1901G; rs61995913

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg

Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I

Publication Date: 2022-01

Variant appearance in text: LRP2: 5702C>G; Ala1901Gly; rs61995913

PubMed Link: 34837038

Variant Present in the following documents:

• 41431_2021_984_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg

Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I

Publication Date: 2021-11-26

Variant appearance in text: LRP2: 5702C>G; Ala1901Gly; rs61995913

PubMed Link: 34837038

Variant Present in the following documents:

• 41431_2021_984_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.

Cancers

Roze, Joline F JF; Kutzera, Joachim J; Koole, Wouter W; Ausems, Margreet G E M MGEM; Engelstad, Kristi K; Piek, Jurgen M J JMJ; de Kroon, Cor D CD; Verheijen, René H M RHM; van Haaften, Gijs G; Zweemer, Ronald P RP; Monroe, Glen R GR

Publication Date: 2021-05-18

Variant appearance in text: rs61995913

PubMed Link: 34069790

Variant Present in the following documents:

• Main text
• cancers-13-02430.pdf

View BVdb publication page

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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: LRP2: A1901G

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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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: LRP2: A1901G; rs61995913

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Ma, Jun J; Guan, Meijian M; Bowden, Donald W DW; Ng, Maggie C Y MC; Hicks, Pamela J PJ; Lea, Janice P JP; Ma, Lijun L; Gao, Chuan C; Palmer, Nicholette D ND; Freedman, Barry I BI

Publication Date: 2016-06-06

Variant appearance in text: rs61995913

PubMed Link: 27197912

Variant Present in the following documents:

• Main text

View BVdb publication page

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