Publications:

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: BRCA1: 4399delC; Gln1467fs

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

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Oncologist-led BRCA 'mainstreaming' in the ovarian cancer clinic: A study of 255 patients and its impact on their management.

Scientific Reports

Rumford, Megan M; Lythgoe, Mark M; McNeish, Iain I; Gabra, Hani H; Tookman, Laura L; Rahman, Nazneen N; George, Angela A; Krell, Jonathan J

Publication Date: 2020-02-25

Variant appearance in text: BRCA1: 4399delC

PubMed Link: 32098980

Variant Present in the following documents:

• Main text

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Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International

Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R

Publication Date: 2020

Variant appearance in text: BRCA1: 4398del

PubMed Link: 32090079

Variant Present in the following documents:

• BMRI2020-3289023.pdf

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