Publications:

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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: rs1010167

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: GSTM4: -285C>G; rs1010167

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs1010167

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: GSTM4: -285C>G; rs1010167

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

View BVdb publication page

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Plasma lipid levels and risk of primary open angle glaucoma: a genetic study using Mendelian randomization.

Bmc Ophthalmology

Xu, Mengqiao M; Li, Shengguo S; Zhu, Jundong J; Luo, Dawei D; Song, Weitao W; Zhou, Minwen M

Publication Date: 2020-10-02

Variant appearance in text: rs1010167

PubMed Link: 33008364

Variant Present in the following documents:

• Main text
• 12886_2020_Article_1661.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: GSTM4: -285C>G; rs1010167

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications

Nowak, Christoph C; Ärnlöv, Johan J

Publication Date: 2018-09-27

Variant appearance in text: rs1010167

PubMed Link: 30262900

Variant Present in the following documents:

• 41467_2018_6467_MOESM1_ESM.pdf

View BVdb publication page

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Role of Blood Lipids in the Development of Ischemic Stroke and its Subtypes: A Mendelian Randomization Study.

Stroke

Hindy, George G; Engström, Gunnar G; Larsson, Susanna C SC; Traylor, Matthew M; Markus, Hugh S HS; Melander, Olle O; Orho-Melander, Marju M; ,

Publication Date: 2018-04

Variant appearance in text: rs1010167

PubMed Link: 29535274

Variant Present in the following documents:

• str-49-820-s001.pdf

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HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.

Journal Of Translational Medicine

Xue, Feng F; Higgs, Brandon W BW; Huang, Jiaqi J; Morehouse, Chris C; Zhu, Wei W; Yao, Xin X; Brohawn, Philip P; Xiao, Zhan Z; Sebastian, Yinong Y; Liu, Zheng Z; Xia, Yun Y; Shen, Dong D; Kuziora, Mike M; Dong, Zhengwei Z; Han, Hulin H; Gu, Yi Y; Gu, Jianren J; Xia, Qiang Q; Yao, Yihong Y

Publication Date: 2015-12-11

Variant appearance in text: rs1010167

PubMed Link: 26653219

Variant Present in the following documents:

• 12967_2015_743_MOESM1_ESM.xlsx, sheet 5

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: rs1010167

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Chronic effects of air pollution on respiratory health in Southern California children: findings from the Southern California Children's Health Study.

Journal Of Thoracic Disease

Chen, Zhanghua Z; Salam, Muhammad T MT; Eckel, Sandrah P SP; Breton, Carrie V CV; Gilliland, Frank D FD

Publication Date: 2015-01

Variant appearance in text: rs1010167

PubMed Link: 25694817

Variant Present in the following documents:

• Main text

View BVdb publication page

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Maternal and offspring xenobiotic metabolism haplotypes and the risk of childhood acute lymphoblastic leukemia.

Leukemia Research

Nousome, Darryl D; Lupo, Philip J PJ; Okcu, M Fatih MF; Scheurer, Michael E ME

Publication Date: 2013-05

Variant appearance in text: rs1010167

PubMed Link: 23433810

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of the Metabochip in diverse populations from the International HapMap Project in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Crawford, Dana C DC; Goodloe, Robert R; Brown-Gentry, Kristin K; Wilson, Sarah S; Roberson, Jamie J; Gillani, Niloufar B NB; Ritchie, Marylyn D MD; Dilks, Holli H HH; Bush, William S WS

Publication Date: 2013

Variant appearance in text: rs1010167

PubMed Link: 23424124

Variant Present in the following documents:

• Main text

View BVdb publication page

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Maternal variation in EPHX1, a xenobiotic metabolism gene, is associated with childhood medulloblastoma: an exploratory case-parent triad study.

Pediatric Hematology And Oncology

Lupo, Philip J PJ; Nousome, Darryl D; Okcu, M Fatih MF; Chintagumpala, Murali M; Scheurer, Michael E ME

Publication Date: 2012-11

Variant appearance in text: rs1010167

PubMed Link: 22994552

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variations and patient-reported quality of life among patients with lung cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Sloan, Jeff A JA; de Andrade, Mariza M; Decker, Paul P; Wampfler, Jason J; Oswold, Curtis C; Clark, Matthew M; Yang, Ping P

Publication Date: 2012-05-10

Variant appearance in text: rs1010167

PubMed Link: 22454423

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease-associated mutations that alter the RNA structural ensemble.

Plos Genetics

Halvorsen, Matthew M; Martin, Joshua S JS; Broadaway, Sam S; Laederach, Alain A

Publication Date: 2010-08-19

Variant appearance in text: rs1010167

PubMed Link: 20808897

Variant Present in the following documents:

• Main text
• pgen.1001074.s008.pdf
• pgen.1001074.s006.pdf
• pgen.1001074.pdf

View BVdb publication page

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Population genomics of human gene expression.

Nature Genetics

Stranger, Barbara E BE; Nica, Alexandra C AC; Forrest, Matthew S MS; Dimas, Antigone A; Bird, Christine P CP; Beazley, Claude C; Ingle, Catherine E CE; Dunning, Mark M; Flicek, Paul P; Koller, Daphne D; Montgomery, Stephen S; Tavaré, Simon S; Deloukas, Panos P; Dermitzakis, Emmanouil T ET

Publication Date: 2007-10

Variant appearance in text: rs1010167

PubMed Link: 17873874

Variant Present in the following documents:

• Main text

View BVdb publication page

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Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.

American Journal Of Human Genetics

Shi, Min M; Christensen, Kaare K; Weinberg, Clarice R CR; Romitti, Paul P; Bathum, Lise L; Lozada, Anthony A; Morris, Richard W RW; Lovett, Michael M; Murray, Jeffrey C JC

Publication Date: 2007-01

Variant appearance in text: rs1010167

PubMed Link: 17160896

Variant Present in the following documents:

• Main text

View BVdb publication page

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