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: rs3208305

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs3208305

PubMed Link: 35241092

Variant Present in the following documents:

• Main text
• 12967_2022_3314_MOESM2_ESM.pdf
• 12967_2022_Article_3314.pdf

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: rs3208305

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs3208305

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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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: rs3208305

PubMed Link: 29438437

Variant Present in the following documents:

• Main text
• pone.0192617.pdf
• pone.0192617.s002.pdf

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs3208305

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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Genetic variants in lipid metabolism are independently associated with multiple features of the metabolic syndrome.

Lipids In Health And Disease

Povel, Cécile M CM; Boer, Jolanda M A JM; Imholz, Sandra S; Dollé, Martijn E T ME; Feskens, Edith J M EJ

Publication Date: 2011-07-18

Variant appearance in text: rs3208305

PubMed Link: 21767357

Variant Present in the following documents:

• Main text
• 1476-511X-10-118.pdf

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Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Circulation. Cardiovascular Genetics

Edmondson, Andrew C AC; Braund, Peter S PS; Stylianou, Ioannis M IM; Khera, Amit V AV; Nelson, Christopher P CP; Wolfe, Megan L ML; Derohannessian, Stephanie L SL; Keating, Brendan J BJ; Qu, Liming L; He, Jing J; Tobin, Martin D MD; Tomaszewski, Maciej M; Baumert, Jens J; Klopp, Norman N; Döring, Angela A; Thorand, Barbara B; Li, Mingyao M; Reilly, Muredach P MP; Koenig, Wolfgang W; Samani, Nilesh J NJ; Rader, Daniel J DJ

Publication Date: 2011-04

Variant appearance in text: rs3208305

PubMed Link: 21303902

Variant Present in the following documents:

• Main text

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Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar.

Human Molecular Genetics

Smith, Andrew J P AJ; Palmen, Jutta J; Putt, Wendy W; Talmud, Philippa J PJ; Humphries, Steve E SE; Drenos, Fotios F

Publication Date: 2010-10-15

Variant appearance in text: rs3208305

PubMed Link: 20650961

Variant Present in the following documents:

• Main text
• supp_ddq308_ddq308supp.pdf
• ddq308.pdf

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Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

Bmc Genetics

Ban, Hyo-Jeong HJ; Heo, Jee Yeon JY; Oh, Kyung-Soo KS; Park, Keun-Joon KJ

Publication Date: 2010-04-23

Variant appearance in text: rs3208305

PubMed Link: 20416077

Variant Present in the following documents:

• Main text
• 1471-2156-11-26.pdf

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Association of lipoprotein lipase (LPL) single nucleotide polymorphisms with type 2 diabetes mellitus.

Experimental & Molecular Medicine

Cho, Yoon Shin YS; Go, Min Jin MJ; Han, Hye Ree HR; Cha, Seung Hun SH; Kim, Hung Tae HT; Min, Haesook H; Shin, Hyoung Doo HD; Park, Chan C; Han, Bok Ghee BG; Cho, Nam Han NH; Shin, Chol C; Kimm, Kuchan K; Oh, Bermseok B

Publication Date: 2008-10-31

Variant appearance in text: rs3208305

PubMed Link: 18985010

Variant Present in the following documents:

• Main text

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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: rs3208305

PubMed Link: 15716494

Variant Present in the following documents:

• Main text

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