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: rs363717

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Role of ABCA1 in Cardiovascular Disease.

Journal Of Personalized Medicine

Wang, Jing J; Xiao, Qianqian Q; Wang, Luyun L; Wang, Yan Y; Wang, Daowen D; Ding, Hu H

Publication Date: 2022-06-20

Variant appearance in text: rs363717

PubMed Link: 35743794

Variant Present in the following documents:

• Main text
• jpm-12-01010.pdf

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: rs363717

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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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: rs363717

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs363717

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs363717

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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3'UTR Polymorphism in ACSL1 Gene Correlates with Expression Levels and Poor Clinical Outcome in Colon Cancer Patients.

Plos One

Vargas, Teodoro T; Moreno-Rubio, Juan J; Herranz, Jesús J; Cejas, Paloma P; Molina, Susana S; Mendiola, Marta M; Burgos, Emilio E; Custodio, Ana B AB; De Miguel, María M; Martín-Hernández, Roberto R; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A

Publication Date: 2016

Variant appearance in text: rs363717

PubMed Link: 27992526

Variant Present in the following documents:

• Main text
• pone.0168423.pdf

View BVdb publication page

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Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.

International Journal Of Clinical And Experimental Pathology

Lu, Yuping Y; Liu, Yawen Y; Li, Yong Y; Zhang, Huiping H; Yu, Mingxi M; Kanu, Joseph Sam JS; Qiao, Yichun Y; Tang, Yuan Y; Zhen, Qing Q; Cheng, Yi Y

Publication Date: 2015

Variant appearance in text: rs363717

PubMed Link: 26722555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine.

International Journal Of Molecular Sciences

Simeon, Vittorio V; Todoerti, Katia K; La Rocca, Francesco F; Caivano, Antonella A; Trino, Stefania S; Lionetti, Marta M; Agnelli, Luca L; De Luca, Luciana L; Laurenzana, Ilaria I; Neri, Antonino A; Musto, Pellegrino P

Publication Date: 2015-07-30

Variant appearance in text: rs363717

PubMed Link: 26263974

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs363717

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer.

Bmc Pharmacology & Toxicology

Lambrechts, Sandrina S; Lambrechts, Diether D; Despierre, Evelyn E; Van Nieuwenhuysen, Els E; Smeets, Dominiek D; Debruyne, Philip R PR; Renard, Vincent V; Vroman, Philippe P; Luyten, Daisy D; Neven, Patrick P; Amant, Frédéric F; Leunen, Karin K; Vergote, Ignace I; ,

Publication Date: 2015-02-27

Variant appearance in text: rs363717

PubMed Link: 25881102

Variant Present in the following documents:

• Main text
• 40360_2015_Article_1.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs363717

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants in the Boston Puerto Rican Health Study.

Nutrition, Metabolism, And Cardiovascular Diseases : Nmcd

Junyent, M M; Tucker, K L KL; Smith, C E CE; Lane, J M JM; Mattei, J J; Lai, C Q CQ; Parnell, L D LD; Ordovas, J M JM

Publication Date: 2010-10

Variant appearance in text: rs363717

PubMed Link: 19692220

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.

Bmc Genetics

Mattei, Josiemer J; Parnell, Laurence D LD; Lai, Chao-Qiang CQ; Garcia-Bailo, Bibiana B; Adiconis, Xian X; Shen, Jian J; Arnett, Donna D; Demissie, Serkalem S; Tucker, Katherine L KL; Ordovas, Jose M JM

Publication Date: 2009-08-14

Variant appearance in text: rs363717

PubMed Link: 19682384

Variant Present in the following documents:

View BVdb publication page

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A survey of ABCA1 sequence variation confirms association with dementia.

Human Mutation

Reynolds, Chandra A CA; Hong, Mun-Gwan MG; Eriksson, Ulrika K UK; Blennow, Kaj K; Bennet, Anna M AM; Johansson, Boo B; Malmberg, Bo B; Berg, Stig S; Wiklund, Fredrik F; Gatz, Margaret M; Pedersen, Nancy L NL; Prince, Jonathan A JA

Publication Date: 2009-09

Variant appearance in text: rs363717

PubMed Link: 19606474

Variant Present in the following documents:

• Main text

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Examining the effect of linkage disequilibrium between markers on the Type I error rate and power of nonparametric multipoint linkage analysis of two-generation and multigenerational pedigrees in the presence of missing genotype data.

Genetic Epidemiology

Kim, Yoonhee Y; Duggal, Priya P; Gillanders, Elizabeth M EM; Kim, Ho H; Bailey-Wilson, Joan E JE

Publication Date: 2008-01

Variant appearance in text: rs363717

PubMed Link: 17685456

Variant Present in the following documents:

• Main text

View BVdb publication page

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