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: SCN5A: 5869C>T; Arg1957*; rs757532106

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: R1957X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

American Journal Of Human Genetics

Shah, Naisha N; Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Sainger, Rachana R; Caskey, C Thomas CT; Venter, J Craig JC; Telenti, Amalio A

Publication Date: 2018-04-05

Variant appearance in text: rs757532106

PubMed Link: 29625023

Variant Present in the following documents:

• Main text

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