Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: LPA: -21G>A; rs1800769

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene.

Atherosclerosis

Coassin, Stefan S; Kronenberg, Florian F

Publication Date: 2022-05

Variant appearance in text: rs1800769

PubMed Link: 35606073

Variant Present in the following documents:

• Main text
• EMS152740.pdf

View BVdb publication page

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Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic And Precision Medicine

Coassin, Stefan S; Chemello, Kevin K; Khantalin, Ilya I; Forer, Lukas L; Döttelmayer, Patricia P; Schönherr, Sebastian S; Grüneis, Rebecca R; Chong-Hong-Fong, Clément C; Nativel, Brice B; Ramin-Mangata, Stéphane S; Gallo, Antonio A; Roche, Mathias M; Muelegger, Beatrix B; Gieger, Christian C; Peters, Annette A; Zschocke, Johannes J; Marimoutou, Catherine C; Meilhac, Olivier O; Lamina, Claudia C; Kronenberg, Florian F; Blanchard, Valentin V; Lambert, Gilles G

Publication Date: 2022-04

Variant appearance in text: rs1800769

PubMed Link: 35133173

Variant Present in the following documents:

• hcg-15-e003489-s001.pdf

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: LPA: -21G>A; rs1800769

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs1800769

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs1800769

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: LPA: -21G>A; rs1800769

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants in SLC22A3 contribute to the susceptibility to colorectal cancer.

International Journal Of Cancer

Ren, Anjing A; Sun, Shanwen S; Li, Shuwei S; Chen, Tao T; Shu, Yongqian Y; Du, Mulong M; Zhu, Lingjun L

Publication Date: 2019-07-01

Variant appearance in text: rs1800769

PubMed Link: 30561001

Variant Present in the following documents:

• Main text
• IJC-145-154.pdf

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1800769

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1800769

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: LPA: -21G>A; rs1800769

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Structure, function, and genetics of lipoprotein (a).

Journal Of Lipid Research

Schmidt, Konrad K; Noureen, Asma A; Kronenberg, Florian F; Utermann, Gerd G

Publication Date: 2016-08

Variant appearance in text: LPA: -21G>A; rs1800769

PubMed Link: 27074913

Variant Present in the following documents:

• Main text

View BVdb publication page

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Apolipoprotein(a) Kringle-IV Type 2 Copy Number Variation Is Associated with Venous Thromboembolism.

Plos One

Sticchi, Elena E; Magi, Alberto A; Kamstrup, Pia R PR; Marcucci, Rossella R; Prisco, Domenico D; Martinelli, Ida I; Mannucci, Pier Mannuccio PM; Abbate, Rosanna R; Giusti, Betti B

Publication Date: 2016

Variant appearance in text: rs1800769

PubMed Link: 26900838

Variant Present in the following documents:

• Main text
• pone.0149427.pdf

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Association of CVD candidate gene polymorphisms with ischemic stroke and cerebral hemorrhage in Chinese individuals.

Plos One

Ou, Wenjing W; Liu, Xin X; Shen, Yue Y; Li, Jiana J; He, Lingbin L; Yuan, Yuan Y; Tan, Xuerui X; Liu, Lisheng L; Zhao, Jingbo J; Wang, Xingyu X

Publication Date: 2014

Variant appearance in text: rs1800769

PubMed Link: 25144711

Variant Present in the following documents:

• Main text
• pone.0105516.pdf

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Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey.

Plos One

Dumitrescu, Logan L; Glenn, Kimberly K; Brown-Gentry, Kristin K; Shephard, Cynthia C; Wong, Michelle M; Rieder, Mark J MJ; Smith, Joshua D JD; Nickerson, Deborah A DA; Crawford, Dana C DC

Publication Date: 2011-01-28

Variant appearance in text: rs1800769

PubMed Link: 21305047

Variant Present in the following documents:

• Main text
• pone.0016604.pdf

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An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.

Circulation. Cardiovascular Genetics

Zee, Robert Y L RY; Glynn, Robert J RJ; Cheng, Suzanne S; Steiner, Lori L; Rose, Lynda L; Ridker, Paul M PM

Publication Date: 2009-02

Variant appearance in text: rs1800769

PubMed Link: 20031567

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

Zee, Robert Y L RY; Bubes, Vadim V; Shrivastava, Sanjay S; Ridker, Paul M PM; Glynn, Robert J RJ

Publication Date: 2009-04

Variant appearance in text: rs1800769

PubMed Link: 19263529

Variant Present in the following documents:

• Main text

View BVdb publication page

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A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke

Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,

Publication Date: 2009-03

Variant appearance in text: rs1800769

PubMed Link: 19131662

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q.

Journal Of Lipid Research

Ober, Carole C; Nord, Alex S AS; Thompson, Emma E EE; Pan, Lin L; Tan, Zheng Z; Cusanovich, Darren D; Sun, Ying Y; Nicolae, Raluca R; Edelstein, Celina C; Schneider, Daniel H DH; Billstrand, Christine C; Pfaffinger, Ditta D; Phillips, Natasha N; Anderson, Rebecca L RL; Philips, Binu B; Rajagopalan, Ramakrishnan R; Hatsukami, Thomas S TS; Rieder, Mark J MJ; Heagerty, Patrick J PJ; Nickerson, Deborah A DA; Abney, Mark M; Marcovina, Santica S; Jarvik, Gail P GP; Scanu, Angelo M AM; Nicolae, Dan L DL

Publication Date: 2009-05

Variant appearance in text: rs1800769

PubMed Link: 19124843

Variant Present in the following documents:

• Main text

View BVdb publication page

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New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics

Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E

Publication Date: 2008-05-30

Variant appearance in text: rs1800769

PubMed Link: 18513389

Variant Present in the following documents:

• Main text
• 1471-2105-9-254.pdf

View BVdb publication page

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