Publications:

Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.

Jco Precision Oncology

Pemov, Alexander A; Wegman-Ostrosky, Talia T; Kim, Jung J; Koutros, Stella S; Douthitt, Brenna B; Jones, Kristine K; Zhu, Bin B; Baris, Dalsu D; Schwenn, Molly M; Johnson, Alison A; Karagas, Margaret R MR; Carter, Brian D BD; McCullough, Marjorie L ML; Landi, Maria Teresa MT; Freedman, Neal D ND; Albanes, Demetrius D; Silverman, Debra T DT; Rothman, Nathaniel N; Caporaso, Neil E NE; Greene, Mark H MH; Fraumeni, Joseph F JF; Stewart, Douglas R DR

Publication Date: 2021

Variant appearance in text: rs119484086

PubMed Link: 34964002

Variant Present in the following documents:

• Main text
• po-5-po.21.00115.pdf

View BVdb publication page

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: rs119484086

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: rs119484086

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM2_ESM.xlsx, sheet 5

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: rs119484086

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs119484086

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page