Publications:

---

Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs11570891

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

---

LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine

Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL

Publication Date: 2022-03-03

Variant appearance in text: rs11570891

PubMed Link: 35241092

Variant Present in the following documents:

• 12967_2022_3314_MOESM2_ESM.pdf

View BVdb publication page

---

Integrating lipidomics and genomics: emerging tools to understand cardiovascular diseases.

Cellular And Molecular Life Sciences : Cmls

Tabassum, Rubina R; Ripatti, Samuli S

Publication Date: 2021-03

Variant appearance in text: rs11570891

PubMed Link: 33449144

Variant Present in the following documents:

• Main text
• 18_2020_Article_3715.pdf

View BVdb publication page

---

Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications

Tabassum, Rubina R; Rämö, Joel T JT; Ripatti, Pietari P; Koskela, Jukka T JT; Kurki, Mitja M; Karjalainen, Juha J; Palta, Priit P; Hassan, Shabbeer S; Nunez-Fontarnau, Javier J; Kiiskinen, Tuomo T J TTJ; Söderlund, Sanni S; Matikainen, Niina N; Gerl, Mathias J MJ; Surma, Michal A MA; Klose, Christian C; Stitziel, Nathan O NO; Laivuori, Hannele H; Havulinna, Aki S AS; Service, Susan K SK; Salomaa, Veikko V; Pirinen, Matti M; , ; Jauhiainen, Matti M; Daly, Mark J MJ; Freimer, Nelson B NB; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Simons, Kai K; Ripatti, Samuli S

Publication Date: 2019-09-24

Variant appearance in text: rs11570891

PubMed Link: 31551469

Variant Present in the following documents:

• Main text
• 41467_2019_Article_11954.pdf

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs11570891

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

A novel LPL intronic variant: g.18704C>A identified by re-sequencing Kuwaiti Arab samples is associated with high-density lipoprotein, very low-density lipoprotein and triglyceride lipid levels.

Plos One

Al-Bustan, Suzanne A SA; Al-Serri, Ahmad A; Annice, Babitha G BG; Alnaqeeb, Majed A MA; Al-Kandari, Wafa Y WY; Dashti, Mohammed M

Publication Date: 2018

Variant appearance in text: rs11570891

PubMed Link: 29438437

Variant Present in the following documents:

• pone.0192617.s002.pdf

View BVdb publication page

---

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: rs11570891

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs11570891

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans.

Plos Genetics

Bentley, Amy R AR; Chen, Guanjie G; Shriner, Daniel D; Doumatey, Ayo P AP; Zhou, Jie J; Huang, Hanxia H; Mullikin, James C JC; Blakesley, Robert W RW; Hansen, Nancy F NF; Bouffard, Gerard G GG; Cherukuri, Praveen F PF; Maskeri, Baishali B; Young, Alice C AC; Adeyemo, Adebowale A; Rotimi, Charles N CN

Publication Date: 2014-03

Variant appearance in text: rs11570891

PubMed Link: 24603370

Variant Present in the following documents:

• Main text
• pgen.1004190.pdf

View BVdb publication page

---

Lipoprotein lipase gene sequencing and plasma lipid profile.

Journal Of Lipid Research

Pirim, Dilek D; Wang, Xingbin X; Radwan, Zaheda H ZH; Niemsiri, Vipavee V; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2014-01

Variant appearance in text: rs11570891

PubMed Link: 24212298

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology

Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL

Publication Date: 2011-07-10

Variant appearance in text: rs11570891

PubMed Link: 22229114

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Linkage disequilibrium grouping of single nucleotide polymorphisms (SNPs) reflecting haplotype phylogeny for efficient selection of tag SNPs.

Genetics

Takeuchi, Fumihiko F; Yanai, Kazuyuki K; Morii, Toshiyuki T; Ishinaga, Yuji Y; Taniguchi-Yanai, Keiko K; Nagano, Shinobu S; Kato, Norihiro N

Publication Date: 2005-05

Variant appearance in text: rs11570891

PubMed Link: 15716494

Variant Present in the following documents:

• Main text

View BVdb publication page

---