Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: PCSK9: 643C>T

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: PCSK9: R215C; rs753505066

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl12.xlsx, sheet 1
• advancesADV2021006654-suppl4.xlsx, sheet 26

View BVdb publication page

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Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Arquivos Brasileiros De Cardiologia

Jannes, Cinthia Elim CE; Silvino, Júnea Paolucci Paiva JPP; Silva, Pãmela Rodrigues de Souza PRS; Lima, Isabella Ramos IR; Tada, Mauricio Teruo MT; Oliveira, Theo Gremen Mimary TGM; Santos, Raul D RD; Krieger, José Eduardo JE; Pereira, Alexandre da Costa ADC

Publication Date: 2022-04

Variant appearance in text: PCSK9: Arg215Cys

PubMed Link: 35137788

Variant Present in the following documents:

• 0066-782X-abc-118-04-0669.pdf

View BVdb publication page

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Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation

Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL

Publication Date: 2022-08

Variant appearance in text: PCSK9: 643C>T; Arg215Cys

PubMed Link: 34923710

Variant Present in the following documents:

• HUMU-43-1114-s002.xlsx, sheet 1

View BVdb publication page

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Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Journal Of Atherosclerosis And Thrombosis

Kim, Hyoeun H; Lee, Chan Joo CJ; Kim, Sang-Hyun SH; Kim, Jang Young JY; Choi, Sung Hee SH; Kang, Hyun-Jae HJ; Park, Kyong Soo KS; Cho, Byung Ryul BR; Kim, Byung Jin BJ; Sung, Ki Chul KC; Jeong, In-Kyung IK; Jeong, Jin-Ok JO; Bae, Jang-Whan JW; Park, Jung Mi JM; Lee, Yunbeom Y; Jeong, Ilecheon I; Han, Hyojun H; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2022-08-01

Variant appearance in text: PCSK9: R215C; rs753505066

PubMed Link: 34456200

Variant Present in the following documents:

• jat-29-1176.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: PCSK9: 643C>T; Arg215Cys

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications

von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M

Publication Date: 2020-01-16

Variant appearance in text: PCSK9: R215C

PubMed Link: 31949146

Variant Present in the following documents:

• 41467_2019_13915_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies

Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP

Publication Date: 2018-12

Variant appearance in text: PCSK9: 643C>T; R215C

PubMed Link: 30487145

Variant Present in the following documents:

• supp_mcs.a003178_Supplemental_File_3.xlsx, sheet 1

View BVdb publication page

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Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Alver, Maris M; Palover, Marili M; Saar, Aet A; Läll, Kristi K; Zekavat, Seyedeh Maryam SM; Tõnisson, Neeme N; Leitsalu, Liis L; Reigo, Anu A; Nikopensius, Tiit T; Ainla, Tiia T; Kals, Mart M; Mägi, Reedik R; Gabriel, Stacey B SB; Eha, Jaan J; Lander, Eric S ES; Irs, Alar A; Philippakis, Anthony A; Marandi, Toomas T; Natarajan, Pradeep P; Metspalu, Andres A; Kathiresan, Sekar S; Esko, Tõnu T

Publication Date: 2019-05

Variant appearance in text: PCSK9: 643C>T; Arg215Cys

PubMed Link: 30270359

Variant Present in the following documents:

• 41436_2018_311_MOESM5_ESM.pdf
• 41436_2018_311_MOESM6_ESM.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PCSK9: R215C

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One

Han, Soo Min SM; Hwang, Byungjin B; Park, Tae-gun TG; Kim, Do-Il DI; Rhee, Moo-Yong MY; Lee, Byoung-Kwon BK; Ahn, Young Keun YK; Cho, Byung Ryul BR; Woo, Jeongtaek J; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Park, Sungha S; Jang, Yangsoo Y; Lee, Min Goo MG; Bang, Duhee D; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2015

Variant appearance in text: PCSK9: 643C>T; R215C

PubMed Link: 25962062

Variant Present in the following documents:

• Main text
• pone.0126706.pdf

View BVdb publication page

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