Publications:

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: AHNAK2: P747T

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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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: AHNAK2: P747T; rs117125675

PubMed Link: 31764169

Variant Present in the following documents:

• cm9-132-3001-s001.xlsx, sheet 1

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: AHNAK2: P747T

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 10
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 9

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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

The Journal Of Experimental Medicine

Schwerd, Tobias T; Twigg, Stephen R F SRF; Aschenbrenner, Dominik D; Manrique, Santiago S; Miller, Kerry A KA; Taylor, Indira B IB; Capitani, Melania M; McGowan, Simon J SJ; Sweeney, Elizabeth E; Weber, Astrid A; Chen, Liye L; Bowness, Paul P; Riordan, Andrew A; Cant, Andrew A; Freeman, Alexandra F AF; Milner, Joshua D JD; Holland, Steven M SM; Frede, Natalie N; Müller, Miryam M; Schmidt-Arras, Dirk D; Grimbacher, Bodo B; Wall, Steven A SA; Jones, E Yvonne EY; Wilkie, Andrew O M AOM; Uhlig, Holm H HH

Publication Date: 2017-09-04

Variant appearance in text: rs117125675

PubMed Link: 28747427

Variant Present in the following documents:

• JEM_20161810_sm.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: AHNAK2: P747T; rs117125675

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page