Publications:

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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications

Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA

Publication Date: 2022-08-30

Variant appearance in text: LDLR: 1381G>T; Gly461Cys; rs193922568

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs193922568

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs193922568

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications

Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G

Publication Date: 2021-10-06

Variant appearance in text: LDLR: G461C

PubMed Link: 34615865

Variant Present in the following documents:

• 41467_2021_26114_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs193922568

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

View BVdb publication page

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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1381G>T; Gly461Cys

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

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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: LDLR: G461C

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics

Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H

Publication Date: 2015-02

Variant appearance in text: LDLR: G461C

PubMed Link: 25647241

Variant Present in the following documents:

• pgen.1004855.s019.xlsx, sheet 1

View BVdb publication page

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