Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: CUL7: Q514H

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Association analysis and functional annotation of imputed sequence data within genomic regions influencing resistance to gastro-intestinal parasites detected by an LDLA approach in a nucleus flock of Sarda dairy sheep.

Genetics, Selection, Evolution : Gse

Casu, Sara S; Usai, Mario Graziano MG; Sechi, Tiziana T; Salaris, Sotero L SL; Miari, Sabrina S; Mulas, Giuliana G; Tamponi, Claudia C; Varcasia, Antonio A; Scala, Antonio A; Carta, Antonello A

Publication Date: 2022-01-03

Variant appearance in text: CUL7: 1542G>T; Gln514His

PubMed Link: 34979909

Variant Present in the following documents:

• 12711_2021_690_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Chinese Medical Journal

Liu, Shuang S; You, Yan Y; Chen, Dan D; Qian, Jia-Ming JM; Li, Ji J

Publication Date: 2019-12-20

Variant appearance in text: CUL7: Q514H; rs146808129

PubMed Link: 31764169

Variant Present in the following documents:

• cm9-132-3001-s001.xlsx, sheet 1

View BVdb publication page

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: CUL7: 1542G>T; Q514H

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Family-based whole exome sequencing of atopic dermatitis complicated with cataracts.

Oncotarget

Luo, Wenxin W; Xu, Wangdong W; Xia, Lin L; Xie, Dan D; Wang, Lin L; Guo, Zaipei Z; Cheng, Yue Y; Liu, Yi Y; Li, Weimin W

Publication Date: 2017-08-29

Variant appearance in text: rs146808129

PubMed Link: 28938649

Variant Present in the following documents:

• Main text
• oncotarget-08-59446.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: rs146808129

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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