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: 1816G>A; Ala606Thr; rs72658865

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

Scientific Reports

López-Rodríguez, Rosario R; Del Pozo-Valero, Marta M; Corton, Marta M; Minguez, Pablo P; Ruiz-Hornillos, Javier J; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; Villaverde, Cristina C; Núñez-Moreno, Gonzalo G; Romero, Raquel R; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C

Publication Date: 2022-06-20

Variant appearance in text: LDLR: 1816G>A; Ala606Thr

PubMed Link: 35725860

Variant Present in the following documents:

• 41598_2022_14035_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.

Journal Of Atherosclerosis And Thrombosis

Kalra, Sanjay S; Chen, Zhenyue Z; Deerochanawong, Chaicharn C; Shyu, Kou-Gi KG; Tan, Ru San RS; Tomlinson, Brian B; Yeh, Hung-I HI

Publication Date: 2021-05-01

Variant appearance in text: LDLR: A606T

PubMed Link: 33746137

Variant Present in the following documents:

• Main text
• 28_417.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: A606T

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: 1816G>A; Ala606Thr

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

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Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.

Bmc Medical Genetics

Jin, Weirong W; Zhang, Qiuwang Q; Wang, Bei B; Pan, Lili L; Qin, Hongyou H; Yang, Daying D; Zhou, Xiangqun X; Du, Yongcai Y; Lin, Ling L; Kutryk, Michael J MJ

Publication Date: 2019-11-09

Variant appearance in text: LDLR: A606T

PubMed Link: 31706281

Variant Present in the following documents:

• 12881_2019_Article_901.pdf

View BVdb publication page

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Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology

Chen, Peipei P; Chen, Xi X; Zhang, Shuyang S

Publication Date: 2019

Variant appearance in text: LDLR: A606T

PubMed Link: 30949068

Variant Present in the following documents:

• Main text
• fphys-10-00280.pdf

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Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Journal Of Geriatric Cardiology : Jgc

Wang, Xu X; Jiang, Long L; Sun, Li-Yuan LY; Wu, Yue Y; Wen, Wen-Hui WH; Wang, Xi-Fu XF; Liu, Wei W; Zhou, Yu-Jie YJ; Wang, Lu-Ya LY

Publication Date: 2018-06

Variant appearance in text: LDLR: A606T

PubMed Link: 30108616

Variant Present in the following documents:

• Main text
• jgc-15-06-434.pdf

View BVdb publication page

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Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications

Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J

Publication Date: 2018-03-02

Variant appearance in text: rs72658865

PubMed Link: 29500430

Variant Present in the following documents:

• 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: LDLR: A606T

PubMed Link: 26608663

Variant Present in the following documents:

• Main text
• srep17272.pdf

View BVdb publication page

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