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: rs5417

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Artificial intelligence applied to omics data in liver diseases: Enhancing clinical predictions.

Frontiers In Artificial Intelligence

Baciu, Cristina C; Xu, Cherry C; Alim, Mouaid M; Prayitno, Khairunnadiya K; Bhat, Mamatha M

Publication Date: 2022

Variant appearance in text: rs5417

PubMed Link: 36458100

Variant Present in the following documents:

• Main text
• frai-05-1050439.pdf

View BVdb publication page

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Machine Learning to Identify Interaction of Single-Nucleotide Polymorphisms as a Risk Factor for Chronic Drug-Induced Liver Injury.

International Journal Of Environmental Research And Public Health

Moore, Roland R; Ashby, Kristin K; Liao, Tsung-Jen TJ; Chen, Minjun M

Publication Date: 2021-10-10

Variant appearance in text: rs5417

PubMed Link: 34682349

Variant Present in the following documents:

• Main text
• ijerph-18-10603.pdf

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs5417

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

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Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.

Bmc Medical Genomics

Veatch, Olivia J OJ; Bauer, Christopher R CR; Keenan, Brendan T BT; Josyula, Navya S NS; Mazzotti, Diego R DR; Bagai, Kanika K; Malow, Beth A BA; Robishaw, Janet D JD; Pack, Allan I AI; Pendergrass, Sarah A SA

Publication Date: 2020-07-25

Variant appearance in text: rs5417

PubMed Link: 32711518

Variant Present in the following documents:

• 12920_2020_755_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Allelic Variation in Taste Genes Is Associated with Taste and Diet Preferences and Dental Caries.

Nutrients

Eriksson, Linda L; Esberg, Anders A; Haworth, Simon S; Holgerson, Pernilla Lif PL; Johansson, Ingegerd I

Publication Date: 2019-06-29

Variant appearance in text: rs5417

PubMed Link: 31261961

Variant Present in the following documents:

• Main text
• nutrients-11-01491.pdf

View BVdb publication page

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Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)

Wang, Yan Y; Wang, Ji-Guang JG

Publication Date: 2019-04

Variant appearance in text: rs5417

PubMed Link: 31049317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Relationships of SLC2A4, RBP4, PCK1, and PI3K Gene Polymorphisms with Gestational Diabetes Mellitus in a Chinese Population.

Biomed Research International

Hu, Shimin S; Ma, Shujuan S; Li, Xun X; Tian, Zhengwen Z; Liang, Huiling H; Yan, Junxia J; Chen, Mengshi M; Tan, Hongzhuan H

Publication Date: 2019

Variant appearance in text: rs5417

PubMed Link: 30805369

Variant Present in the following documents:

• Main text
• BMRI2019-7398063.pdf

View BVdb publication page

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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: rs5417

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Integrative genomics of microglia implicates DLG4 (PSD95) in the white matter development of preterm infants.

Nature Communications

Krishnan, Michelle L ML; Van Steenwinckel, Juliette J; Schang, Anne-Laure AL; Yan, Jun J; Arnadottir, Johanna J; Le Charpentier, Tifenn T; Csaba, Zsolt Z; Dournaud, Pascal P; Cipriani, Sara S; Auvynet, Constance C; Titomanlio, Luigi L; Pansiot, Julien J; Ball, Gareth G; Boardman, James P JP; Walley, Andrew J AJ; Saxena, Alka A; Mirza, Ghazala G; Fleiss, Bobbi B; Edwards, A David AD; Petretto, Enrico E; Gressens, Pierre P

Publication Date: 2017-09-05

Variant appearance in text: rs5417

PubMed Link: 28874660

Variant Present in the following documents:

• 41467_2017_422_MOESM1_ESM.pdf

View BVdb publication page

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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: rs5417

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Polymorphisms in stearoyl coa desaturase and sterol regulatory element binding protein interact with N-3 polyunsaturated fatty acid intake to modify associations with anthropometric variables and metabolic phenotypes in Yup'ik people.

Molecular Nutrition & Food Research

Lemas, Dominick J DJ; Klimentidis, Yann C YC; Aslibekyan, Stella S; Wiener, Howard W HW; O'Brien, Diane M DM; Hopkins, Scarlett E SE; Stanhope, Kimber L KL; Havel, Peter J PJ; Allison, David B DB; Fernandez, Jose R JR; Tiwari, Hemant K HK; Boyer, Bert B BB

Publication Date: 2016-12

Variant appearance in text: rs5417

PubMed Link: 27467133

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variation in Human Vitamin C Transporter Genes in Common Complex Diseases.

Advances In Nutrition (Bethesda, Md.)

Shaghaghi, Mandana Amir MA; Kloss, Olena O; Eck, Peter P

Publication Date: 2016-03

Variant appearance in text: rs5417

PubMed Link: 26980812

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs5417

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

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: rs5417

PubMed Link: 25944692

Variant Present in the following documents:

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

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Association of glucose transporter 4 genetic polymorphisms with obstructive sleep apnea syndrome in Han Chinese general population: a cross-section study.

Lipids In Health And Disease

Yin, Ting T; Li, Nan Fang NF; Heizhati, Mulalibieke M; Zhang, Juhong J; Zhang, Jingjing J; Zhou, Ling L; Chang, Guijuan G

Publication Date: 2014-01-12

Variant appearance in text: rs5417

PubMed Link: 24410986

Variant Present in the following documents:

• Main text
• 1476-511X-13-12.pdf

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Diversity in the glucose transporter-4 gene (SLC2A4) in humans reflects the action of natural selection along the old-world primates evolution.

Plos One

Tarazona-Santos, Eduardo E; Fabbri, Cristina C; Yeager, Meredith M; Magalhaes, Wagner C WC; Burdett, Laurie L; Crenshaw, Andrew A; Pettener, Davide D; Chanock, Stephen J SJ

Publication Date: 2010-03-23

Variant appearance in text: rs5417

PubMed Link: 20352120

Variant Present in the following documents:

• Main text
• pone.0009827.pdf

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