Publications:

Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: LAMA5: 2321C>T; T774I

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

View BVdb publication page

Non-collagen genes role in digenic Alport syndrome.

Bmc Nephrology

Daga, S S; Fallerini, C C; Furini, S S; Pecoraro, C C; Scolari, F F; Ariani, F F; Bruttini, M M; Mencarelli, M A MA; Mari, F F; Renieri, A A; Pinto, A M AM

Publication Date: 2019-02-26

Variant appearance in text: LAMA5: 2321C>T; Thr774Ile; rs145721906

PubMed Link: 30808327

Variant Present in the following documents:

• Main text
• 12882_2019_Article_1258.pdf

View BVdb publication page

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: LAMA5: 2321C>T; Thr774Ile; rs145721906

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: LAMA5: 2321C>T; T774I; rs145721906

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.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: LAMA5: T774I; rs145721906

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page