Publications:

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer

Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E

Publication Date: 2018-06

Variant appearance in text: NOTCH4: C1191R

PubMed Link: 29872146

Variant Present in the following documents:

• 41416_2018_89_MOESM2_ESM.xls, sheet 1

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Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics

Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S

Publication Date: 2016-12

Variant appearance in text: NOTCH4: 3571T>C; C1191R

PubMed Link: 27997549

Variant Present in the following documents:

• pgen.1006501.s002.xlsx, sheet 1

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: NOTCH4: C1191R

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: NOTCH4: C1191R; rs140263712

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page