Publications:

---

Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.

Current Issues In Molecular Biology

Abondio, Paolo P; Bruno, Francesco F; Luiselli, Donata D

Publication Date: 2023-03-31

Variant appearance in text: rs440446

PubMed Link: 37185708

Variant Present in the following documents:

• Main text
• cimb-45-00184.pdf

View BVdb publication page

---

Identifying genetic variants for amyloid β in subcortical vascular cognitive impairment.

Frontiers In Aging Neuroscience

Kim, Hang-Rai HR; Jung, Sang-Hyuk SH; Kim, Beomsu B; Kim, Jaeho J; Jang, Hyemin H; Kim, Jun Pyo JP; Kim, So Yeon SY; Na, Duk L DL; Kim, Hee Jin HJ; Nho, Kwangsik K; Won, Hong-Hee HH; Seo, Sang Won SW

Publication Date: 2023

Variant appearance in text: rs440446

PubMed Link: 37143691

Variant Present in the following documents:

• fnagi-15-1160536.pdf

View BVdb publication page

---

Characteristics of circulating small noncoding RNAs in plasma and serum during human aging.

Aging Medicine (Milton (N.S.W))

Xiao, Ping P; Shi, Zhangyue Z; Liu, Chenang C; Hagen, Darren E DE

Publication Date: 2023-03

Variant appearance in text: rs440446

PubMed Link: 36911092

Variant Present in the following documents:

• AGM2-6-35-s002.xlsx, sheet 3

View BVdb publication page

---

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: rs440446

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

---

APOE alleles modulate associations of plasma metabolites with variants from multiple genes on chromosome 19q13.3.

Frontiers In Aging Neuroscience

Nazarian, Alireza A; Loiko, Elena E; Yassine, Hussein N HN; Finch, Caleb E CE; Kulminski, Alexander M AM

Publication Date: 2022

Variant appearance in text: rs440446

PubMed Link: 36389057

Variant Present in the following documents:

• Main text
• fnagi-14-1023493.pdf

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs440446

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

---

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: rs440446

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

---

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs440446

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Allele-specific analysis reveals exon- and cell-type-specific regulatory effects of Alzheimer's disease-associated genetic variants.

Translational Psychiatry

He, Liang L; Loika, Yury Y; Kulminski, Alexander M AM

Publication Date: 2022-04-18

Variant appearance in text: rs440446

PubMed Link: 35436980

Variant Present in the following documents:

• Main text
• 41398_2022_Article_1913.pdf

View BVdb publication page

---

Proteomic differences in hippocampus and cortex of sudden unexplained death in childhood.

Acta Neuropathologica

Leitner, Dominique F DF; William, Christopher C; Faustin, Arline A; Askenazi, Manor M; Kanshin, Evgeny E; Snuderl, Matija M; McGuone, Declan D; Wisniewski, Thomas T; Ueberheide, Beatrix B; Gould, Laura L; Devinsky, Orrin O

Publication Date: 2022-05

Variant appearance in text: rs440446

PubMed Link: 35333953

Variant Present in the following documents:

• Main text
• 401_2022_Article_2414.pdf

View BVdb publication page

---

Association between clinical symptoms and apolipoprotein A1 or apolipoprotein B levels is regulated by apolipoprotein E variant rs429358 in patients with chronic schizophrenia.

Annals Of General Psychiatry

Rao, Wenwang W; Meng, Xiangfei X; Li, Keqing K; Zhang, Yunshu Y; Zhang, Xiang Yang XY

Publication Date: 2021-12-20

Variant appearance in text: rs440446

PubMed Link: 34930329

Variant Present in the following documents:

• Main text
• 12991_2021_Article_376.pdf

View BVdb publication page

---

Association between clinical symptoms and apolipoprotein A1 or apolipoprotein B levels is regulated by apolipoprotein E variant rs429358 in patients with chronic schizophrenia.

Annals Of General Psychiatry

Rao, Wenwang W; Meng, Xiangfei X; Li, Keqing K; Zhang, Yunshu Y; Zhang, Xiang Yang XY

Publication Date: 2021-12-20

Variant appearance in text: rs440446

PubMed Link: 34930329

Variant Present in the following documents:

• Main text
• 12991_2021_Article_376.pdf

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: rs440446

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: rs440446

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

---

Sirtuin3 rs28365927 functional variant confers to the high risk of non-alcoholic fatty liver disease in Chinese Han population.

Lipids In Health And Disease

Chen, Li-Jie LJ; Guo, Jing J; Zhang, Song-Xia SX; Xu, Ying Y; Zhao, Qing Q; Zhang, Wei W; Xiao, Jian J; Chen, Yao Y

Publication Date: 2021-08-26

Variant appearance in text: rs440446

PubMed Link: 34446002

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1520.pdf

View BVdb publication page

---

Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies.

Plos One

Wickland, Daniel P DP; Ren, Yingxue Y; Sinnwell, Jason P JP; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Carrasquillo, Minerva M MM; Ross, Owen A OA; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew E ME; Mainzer, Liudmila Sergeevna LS; Biernacka, Joanna M JM; Asmann, Yan W YW

Publication Date: 2021

Variant appearance in text: rs440446

PubMed Link: 33861770

Variant Present in the following documents:

• Main text
• pone.0249305.pdf

View BVdb publication page

---

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: rs440446

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs440446

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

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: rs440446

PubMed Link: 33420045

Variant Present in the following documents:

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

View BVdb publication page

---

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs440446

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings.

International Journal Of Molecular Sciences

Maestri, Simone S; Maturo, Maria Giovanna MG; Cosentino, Emanuela E; Marcolungo, Luca L; Iadarola, Barbara B; Fortunati, Elisabetta E; Rossato, Marzia M; Delledonne, Massimo M

Publication Date: 2020-12-01

Variant appearance in text: rs440446

PubMed Link: 33271988

Variant Present in the following documents:

• Main text
• ijms-21-09177.pdf

View BVdb publication page

---

Haplotype architecture of the Alzheimer's risk in the APOE region via co-skewness.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Kulminski, Alexander M AM; Philipp, Ian I; Loika, Yury Y; He, Liang L; Culminskaya, Irina I

Publication Date: 2020

Variant appearance in text: rs440446

PubMed Link: 33204816

Variant Present in the following documents:

• Main text
• DAD2-12-e12129.pdf

View BVdb publication page

---

Characterizing Clinical and Neuropathological Traits of APOE Haplotypes in African Americans and Europeans.

Journal Of Alzheimer'S Disease : Jad

Mezlini, Aziz M AM; Magdamo, Colin C; Merrill, Emily E; Chibnik, Lori B LB; Blacker, Deborah L DL; Hyman, Bradley T BT; Das, Sudeshna S

Publication Date: 2020

Variant appearance in text: rs440446

PubMed Link: 33016904

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association Between Episodic Memory and Genetic Risk Factors for Alzheimer's Disease in South Asians from the Longitudinal Aging Study in India-Diagnostic Assessment of Dementia (LASI-DAD).

Journal Of The American Geriatrics Society

Smith, Jennifer A JA; Zhao, Wei W; Yu, Miao M; Rumfelt, Kalee E KE; Moorjani, Priya P; Ganna, Andrea A; Dey, Aparajit B AB; Lee, Jinkook J; Kardia, Sharon L R SLR

Publication Date: 2020-08

Variant appearance in text: rs440446

PubMed Link: 32815605

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Zhou, Xiaopu X; Chen, Yu Y; Ip, Fanny C F FCF; Lai, Nicole C H NCH; Li, Yolanda Y T YYT; Jiang, Yuanbing Y; Zhong, Huan H; Chen, Yuewen Y; Zhang, Yulin Y; Ma, Shuangshuang S; Lo, Ronnie M N RMN; Cheung, Kit K; Tong, Estella P S EPS; Ko, Ho H; Shoai, Maryam M; Mok, Kin Y KY; Hardy, John J; Mok, Vincent C T VCT; Kwok, Timothy C Y TCY; Fu, Amy K Y AKY; Ip, Nancy Y NY

Publication Date: 2020

Variant appearance in text: rs440446

PubMed Link: 32775599

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mediterranean Diet and Endothelial Function: A Review of its Effects at Different Vascular Bed Levels.

Nutrients

Torres-Peña, Jose D JD; Rangel-Zuñiga, Oriol A OA; Alcala-Diaz, Juan F JF; Lopez-Miranda, Jose J; Delgado-Lista, Javier J

Publication Date: 2020-07-24

Variant appearance in text: rs440446

PubMed Link: 32722321

Variant Present in the following documents:

• Main text
• nutrients-12-02212.pdf

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs440446

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Genetic and regulatory architecture of Alzheimer's disease in the APOE region.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Kulminski, Alexander M AM; Shu, Leonardo L; Loika, Yury Y; He, Liang L; Nazarian, Alireza A; Arbeev, Konstantin K; Ukraintseva, Svetlana S; Yashin, Anatoliy A; Culminskaya, Irina I

Publication Date: 2020

Variant appearance in text: rs440446

PubMed Link: 32211503

Variant Present in the following documents:

• Main text
• DAD2-12-e12008-s007.xlsx, sheet 1
• DAD2-12-e12008.pdf

View BVdb publication page

---

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: rs440446

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

APOE region molecular signatures of Alzheimer's disease across races/ethnicities.

Neurobiology Of Aging

Kulminski, Alexander M AM; Shu, Leonardo L; Loika, Yury Y; Nazarian, Alireza A; Arbeev, Konstantin K; Ukraintseva, Svetlana S; Yashin, Anatoliy A; Culminskaya, Irina I

Publication Date: 2020-03

Variant appearance in text: rs440446

PubMed Link: 31813627

Variant Present in the following documents:

• Main text

View BVdb publication page

---

APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer's Disease Risk in a Multiracial Sample.

Journal Of Clinical Medicine

Choi, Kyu Yeong KY; Lee, Jang Jae JJ; Gunasekaran, Tamil Iniyan TI; Kang, Sarang S; Lee, Wooje W; Jeong, Jangho J; Lim, Ho Jae HJ; Zhang, Xiaoling X; Zhu, Congcong C; Won, So-Yoon SY; Choi, Yu Yong YY; Seo, Eun Hyun EH; Lee, Seok Cheol SC; Gim, Jungsoo J; Chung, Ji Yeon JY; Chong, Ari A; Byun, Min Soo MS; Seo, Sujin S; Ko, Pan-Woo PW; Han, Ji-Won JW; McLean, Catriona C; Farrell, John J; Lunetta, Kathryn L KL; Miyashita, Akinori A; Hara, Norikazu N; Won, Sungho S; Choi, Seong-Min SM; Ha, Jung-Min JM; Jeong, Jee Hyang JH; Kuwano, Ryozo R; Song, Min Kyung MK; An, Seong Soo A SSA; Lee, Young Min YM; Park, Kyung Won KW; Lee, Ho-Won HW; Choi, Seong Hye SH; Rhee, Sangmyung S; Song, Woo Keun WK; Lee, Jung Sup JS; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Choo, I L Han ILH; Nho, Kwangsik K; Kim, Ki-Woong KW; Lee, Dong Young DY; Kim, SangYun S; Kim, Byeong C BC; Kim, Hoowon H; Jun, Gyungah R GR; Schellenberg, Gerard D GD; Ikeuchi, Takeshi T; Farrer, Lindsay A LA; Lee, Kun Ho KH; Neuroimaging Initative, Alzheimer's Disease AD

Publication Date: 2019-08-16

Variant appearance in text: rs440446

PubMed Link: 31426376

Variant Present in the following documents:

• Main text
• jcm-08-01236-s001.pdf
• jcm-08-01236.pdf

View BVdb publication page

---

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs440446

PubMed Link: 31397093

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Non-coding variability at the APOE locus contributes to the Alzheimer's risk.

Nature Communications

Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Kwok, Timothy C Y TCY; Mok, Vincent C T VCT; Guo, Qihao Q; Ip, Fanny C FC; Chen, Yuewen Y; Mullapudi, Nandita N; , ; Giusti-Rodríguez, Paola P; Sullivan, Patrick F PF; Hardy, John J; Fu, Amy K Y AKY; Li, Yun Y; Ip, Nancy Y NY

Publication Date: 2019-07-25

Variant appearance in text: rs440446

PubMed Link: 31346172

Variant Present in the following documents:

• 41467_2019_10945_MOESM1_ESM.pdf

View BVdb publication page

---

Apolipoprotein E-C1-C4-C2 gene cluster region and inter-individual variation in plasma lipoprotein levels: a comprehensive genetic association study in two ethnic groups.

Plos One

Pirim, Dilek D; Radwan, Zaheda H ZH; Wang, Xingbin X; Niemsiri, Vipavee V; Hokanson, John E JE; Hamman, Richard F RF; Feingold, Eleanor E; Bunker, Clareann H CH; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2019

Variant appearance in text: rs440446

PubMed Link: 30913229

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Contribution of Genetic Factors to Cognitive Impairment and Dementia: Apolipoprotein E Gene, Gene Interactions, and Polygenic Risk.

International Journal Of Molecular Sciences

Fan, Jialing J; Tao, Wuhai W; Li, Xin X; Li, He H; Zhang, Junying J; Wei, Dongfeng D; Chen, Yaojing Y; Zhang, Zhanjun Z

Publication Date: 2019-03-07

Variant appearance in text: rs440446

PubMed Link: 30866553

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports

Moon, Sanghoon S; Kim, Young Jin YJ; Han, Sohee S; Hwang, Mi Yeong MY; Shin, Dong Mun DM; Park, Min Young MY; Lu, Yontao Y; Yoon, Kyungheon K; Jang, Hye-Mi HM; Kim, Yun Kyoung YK; Park, Tae-Joon TJ; Song, Dae Sub DS; Park, Jae Kyung JK; Lee, Jong-Eun JE; Kim, Bong-Jo BJ

Publication Date: 2019-02-04

Variant appearance in text: rs440446

PubMed Link: 30718733

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Ebiomedicine

Jin, Jing-Lu JL; Sun, Di D; Cao, Ye-Xuan YX; Zhang, Hui-Wen HW; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ

Publication Date: 2018-12

Variant appearance in text: rs440446

PubMed Link: 30420299

Variant Present in the following documents:

• mmc1.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: rs440446

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

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: rs440446

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

Apolipoprotein E region molecular signatures of Alzheimer's disease.

Aging Cell

Kulminski, Alexander M AM; Huang, Jian J; Wang, Jiayi J; He, Liang L; Loika, Yury Y; Culminskaya, Irina I

Publication Date: 2018-08

Variant appearance in text: rs440446

PubMed Link: 29797398

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Haplotype analysis of APOE intragenic SNPs.

Bmc Neuroscience

Babenko, Vladimir N VN; Afonnikov, Dmitry A DA; Ignatieva, Elena V EV; Klimov, Anton V AV; Gusev, Fedor E FE; Rogaev, Evgeny I EI

Publication Date: 2018-04-19

Variant appearance in text: rs440446

PubMed Link: 29745836

Variant Present in the following documents:

• Main text
• 12868_2018_Article_413.pdf

View BVdb publication page

---

Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Zhao, Qianhua Q; Chen, Keliang K; Chen, Yuewen Y; Hardy, John J; Li, Yun Y; Fu, Amy K Y AKY; Guo, Qihao Q; Ip, Nancy Y NY; ,

Publication Date: 2018-02-20

Variant appearance in text: rs440446

PubMed Link: 29432188

Variant Present in the following documents:

• pnas.1715554115.sapp.pdf

View BVdb publication page

---

Genes associated with Type 2 Diabetes and vascular complications.

Aging

Montesanto, Alberto A; Bonfigli, Anna Rita AR; Crocco, Paolina P; Garagnani, Paolo P; De Luca, Maria M; Boemi, Massimo M; Marasco, Elena E; Pirazzini, Chiara C; Giuliani, Cristina C; Franceschi, Claudio C; Passarino, Giuseppe G; Testa, Roberto R; Olivieri, Fabiola F; Rose, Giuseppina G

Publication Date: 2018-02-04

Variant appearance in text: rs440446

PubMed Link: 29410390

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs440446

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

---

Genetic Biomarkers on Age-Related Cognitive Decline.

Frontiers In Psychiatry

Lin, Chieh-Hsin CH; Lin, Eugene E; Lane, Hsien-Yuan HY

Publication Date: 2017

Variant appearance in text: rs440446

PubMed Link: 29209239

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of new genetic variants of HLA-DQB1 associated with human longevity and lipid homeostasis-a cross-sectional study in a Chinese population.

Aging

Yang, Fan F; Sun, Liang L; Zhu, Xiaoquan X; Han, Jing J; Zeng, Yi Y; Nie, Chao C; Yuan, Huiping H; Li, Xiaoling X; Shi, Xiaohong X; Yang, Yige Y; Hu, Caiyou C; Lv, Zeping Z; Huang, Zezhi Z; Zheng, Chenguang C; Liang, Siying S; Huang, Jin J; Wan, Gang G; Qi, Keyan K; Qin, Bin B; Cao, Suyan S; Zhao, Xin X; Zhang, Yongqiang Y; Yang, Ze Z

Publication Date: 2017-11-10

Variant appearance in text: rs440446

PubMed Link: 29129831

Variant Present in the following documents:

• aging-09-2316.pdf

View BVdb publication page

---

Genetic Analysis of Mitochondrial Ribosomal Proteins and Cognitive Aging in Postmenopausal Women.

Frontiers In Genetics

Mozhui, Khyobeni K; Snively, Beverly M BM; Rapp, Stephen R SR; Wallace, Robert B RB; Williams, Robert W RW; Johnson, Karen C KC

Publication Date: 2017

Variant appearance in text: rs440446

PubMed Link: 28983317

Variant Present in the following documents:

• Main text
• fgene-08-00127.pdf

View BVdb publication page

---

Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs440446

PubMed Link: 28652652

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons.

Scientific Reports

Hixson, James E JE; Jun, Goo G; Shimmin, Lawrence C LC; Wang, Yizhi Y; Yu, Guoqiang G; Mao, Chunhong C; Warren, Andrew S AS; Howard, Timothy D TD; Heide, Richard S Vander RSV; Van Eyk, Jennifer J; Wang, Yue Y; Herrington, David M DM

Publication Date: 2017-06-22

Variant appearance in text: rs440446

PubMed Link: 28642624

Variant Present in the following documents:

• Main text
• 41598_2017_Article_4433.pdf

View BVdb publication page

---

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs440446

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Lead-Related Genetic Loci, Cumulative Lead Exposure and Incident Coronary Heart Disease: The Normative Aging Study.

Plos One

Ding, Ning N; Wang, Xin X; Weisskopf, Marc G MG; Sparrow, David D; Schwartz, Joel J; Hu, Howard H; Park, Sung Kyun SK

Publication Date: 2016

Variant appearance in text: rs440446

PubMed Link: 27584680

Variant Present in the following documents:

• Main text
• pone.0161472.pdf

View BVdb publication page

---