Publications:

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: rs118022661

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

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MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Iacovazzo, Donato D; Flanagan, Sarah E SE; Walker, Emily E; Quezado, Rosana R; de Sousa Barros, Fernando Antonio FA; Caswell, Richard R; Johnson, Matthew B MB; Wakeling, Matthew M; Brändle, Michael M; Guo, Min M; Dang, Mary N MN; Gabrovska, Plamena P; Niederle, Bruno B; Christ, Emanuel E; Jenni, Stefan S; Sipos, Bence B; Nieser, Maike M; Frilling, Andrea A; Dhatariya, Ketan K; Chanson, Philippe P; de Herder, Wouter W WW; Konukiewitz, Björn B; Klöppel, Günter G; Stein, Roland R; Korbonits, Márta M; Ellard, Sian S

Publication Date: 2018-01-30

Variant appearance in text: rs118022661

PubMed Link: 29339498

Variant Present in the following documents:

• pnas.1712262115.sapp.pdf

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs118022661

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs118022661

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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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: rs118022661

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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