Publications:

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: S100A3: R3K; rs36022742

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: S100A3: R3K; rs36022742

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.

International Journal Of Molecular Medicine

Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M

Publication Date: 2017-06

Variant appearance in text: rs36022742

PubMed Link: 28487959

Variant Present in the following documents:

• Main text
• ijmm-39-06-1477.pdf

View BVdb publication page

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Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

Plos One

Parker, Glendon J GJ; Leppert, Tami T; Anex, Deon S DS; Hilmer, Jonathan K JK; Matsunami, Nori N; Baird, Lisa L; Stevens, Jeffery J; Parsawar, Krishna K; Durbin-Johnson, Blythe P BP; Rocke, David M DM; Nelson, Chad C; Fairbanks, Daniel J DJ; Wilson, Andrew S AS; Rice, Robert H RH; Woodward, Scott R SR; Bothner, Brian B; Hart, Bradley R BR; Leppert, Mark M

Publication Date: 2016

Variant appearance in text: rs36022742

PubMed Link: 27603779

Variant Present in the following documents:

• pone.0160653.s004.pdf

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: rs36022742

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: S100A3: R3K; rs36022742

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs36022742

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One

Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y

Publication Date: 2014

Variant appearance in text: S100A3: R3K; rs36022742

PubMed Link: 24637876

Variant Present in the following documents:

• pone.0091598.s006.pdf

View BVdb publication page

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