Publications:

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: IL1B: V248I

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Plos One

Lucas, Sionne E M SEM; Zhou, Tiger T; Blackburn, Nicholas B NB; Mills, Richard A RA; Ellis, Jonathan J; Leo, Paul P; Souzeau, Emmanuelle E; Ridge, Bronwyn B; Charlesworth, Jac C JC; Lindsay, Richard R; Craig, Jamie E JE; Burdon, Kathryn P KP

Publication Date: 2018

Variant appearance in text: IL1B: 742G>A; V248I; rs781114719

PubMed Link: 29924831

Variant Present in the following documents:

• pone.0199178.s003.xlsx, sheet 1

View BVdb publication page