Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2228576

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs2228576

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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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: rs2228576

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2228576

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.

Cardiology Research And Practice

Yu, Xing X; Fan, Yuxuan Y; Sun, Xiaopeng X; Wang, Xiaojing X; Guo, Qi Q; Fan, Zhiqing Z

Publication Date: 2022

Variant appearance in text: rs2228576

PubMed Link: 36032316

Variant Present in the following documents:

• 9742071.f1.xlsx, sheet 1
• CRP2022-9742071.pdf

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: rs2228576

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: rs2228576

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.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: rs2228576

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The Effect of Genetically Guided Mathematical Prediction and the Blood Pressure Response to Pharmacotherapy in Hypertension Patients.

Clinical Medicine Insights. Cardiology

Kelley, Eli F EF; Olson, Thomas P TP; Curry, Timothy B TB; Sprissler, Ryan R; Snyder, Eric M EM

Publication Date: 2019

Variant appearance in text: rs2228576

PubMed Link: 31105432

Variant Present in the following documents:

• Main text
• 10.1177_1179546819845883.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2228576

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Relationship between a Weighted Multi-Gene Algorithm and Blood Pressure Control in Hypertension.

Journal Of Clinical Medicine

Phelps, Pamela K PK; Kelley, Eli F EF; Walla, Danielle M DM; Ross, Jennifer K JK; Simmons, Jerad J JJ; Bulock, Emma K EK; Ayres, Audrie A; Akre, Monica K MK; Sprissler, Ryan R; Olson, Thomas P TP; Snyder, Eric M EM

Publication Date: 2019-02-28

Variant appearance in text: rs2228576

PubMed Link: 30823438

Variant Present in the following documents:

• Main text
• jcm-08-00289.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: rs2228576

PubMed Link: 30319441

Variant Present in the following documents:

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

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: rs2228576

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Gene variants as risk factors for gastroschisis.

American Journal Of Medical Genetics. Part A

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Tom, Lauren L; Lin, Bin B; Carmichael, Suzan L SL; Lammer, Edward J EJ; Shaw, Gary M GM

Publication Date: 2016-11

Variant appearance in text: rs2228576

PubMed Link: 27616475

Variant Present in the following documents:

• Main text
• AJMG-170-2788.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2228576

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A novel method for testing association of multiple genetic markers with a multinomial trait.

Proceedings. American Statistical Association. Annual Meeting

Kwon, Soonil S; Goodarzi, Mark O MO; Taylor, Kent D KD; Cui, Jinrui J; Chen, Y-D Ida YD; Rotter, Jerome I JI; Hsueh, Willa W; Guo, Xiuqing X

Publication Date: 2010

Variant appearance in text: rs2228576

PubMed Link: 26005397

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs2228576

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Placental genome and maternal-placental genetic interactions: a genome-wide and candidate gene association study of placental abruption.

Plos One

Denis, Marie M; Enquobahrie, Daniel A DA; Tadesse, Mahlet G MG; Gelaye, Bizu B; Sanchez, Sixto E SE; Salazar, Manuel M; Ananth, Cande V CV; Williams, Michelle A MA

Publication Date: 2014

Variant appearance in text: rs2228576

PubMed Link: 25549360

Variant Present in the following documents:

• Main text
• pone.0116346.pdf

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs2228576

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24

View BVdb publication page

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Extracellular water and blood pressure in adults with growth hormone (GH) deficiency: a genotype-phenotype association study.

Plos One

Barbosa, Edna J L EJ; Glad, Camilla A M CA; Nilsson, Anna G AG; Bosaeus, Niklas N; Nyström, Helena Filipsson HF; Svensson, Per-Arne PA; Bengtsson, Bengt-Åke BÅ; Nilsson, Staffan S; Bosaeus, Ingvar I; Boguszewski, Cesar Luiz CL; Johannsson, Gudmundur G

Publication Date: 2014

Variant appearance in text: rs2228576

PubMed Link: 25157616

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of CVD candidate gene polymorphisms with ischemic stroke and cerebral hemorrhage in Chinese individuals.

Plos One

Ou, Wenjing W; Liu, Xin X; Shen, Yue Y; Li, Jiana J; He, Lingbin L; Yuan, Yuan Y; Tan, Xuerui X; Liu, Lisheng L; Zhao, Jingbo J; Wang, Xingyu X

Publication Date: 2014

Variant appearance in text: rs2228576

PubMed Link: 25144711

Variant Present in the following documents:

• Main text
• pone.0105516.pdf

View BVdb publication page

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Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.

Molecular Pain

Kobayashi, Daisuke D; Nishizawa, Daisuke D; Takasaki, Yoshito Y; Kasai, Shinya S; Kakizawa, Takashi T; Ikeda, Kazutaka K; Fukuda, Ken-ichi K

Publication Date: 2013-07-08

Variant appearance in text: rs2228576

PubMed Link: 23834954

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2228576

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis.

Pediatric Rheumatology Online Journal

Hinks, Anne A; Martin, Paul P; Thompson, Susan D SD; Sudman, Marc M; Stock, Carmel J CJ; Thomson, Wendy W; Day, Thomas G TG; Packham, Jon J; , ; , ; Ramanan, Athimalaipet V AV; Donn, Rachelle P RP

Publication Date: 2013-04-02

Variant appearance in text: rs2228576

PubMed Link: 23547563

Variant Present in the following documents:

• Main text
• 1546-0096-11-14.pdf

View BVdb publication page

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Lack of interaction of beta-cell-function-associated variants with hypertension on change in fasting glucose and diabetes risk: the Framingham Offspring Study.

Journal Of Hypertension

de Miguel-Yanes, Jose M JM; Porneala, Bianca B; Pencina, Michael J MJ; Fox, Caroline S CS; Florez, Jose C JC; Siscovick, David S DS; Dupuis, Josée J; Meigs, James B JB

Publication Date: 2013-05

Variant appearance in text: rs2228576

PubMed Link: 23425704

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic evaluation of apoptotic pathway gene polymorphisms and lung cancer risk.

Carcinogenesis

Lin, Jie J; Lu, Charles C; Stewart, David J DJ; Gu, Jian J; Huang, Maosheng M; Chang, David W DW; Lippman, Scott M SM; Wu, Xifeng X

Publication Date: 2012-09

Variant appearance in text: rs2228576

PubMed Link: 22665367

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.

Journal Of Medical Genetics

Stanke, Frauke F; Becker, Tim T; Kumar, Vinod V; Hedtfeld, Silke S; Becker, Christian C; Cuppens, Harry H; Tamm, Stephanie S; Yarden, Jennifer J; Laabs, Ulrike U; Siebert, Benny B; Fernandez, Luis L; Macek, Milan M; Radojkovic, Dragica D; Ballmann, Manfred M; Greipel, Joachim J; Cassiman, Jean-Jacques JJ; Wienker, Thomas F TF; Tümmler, Burkhard B

Publication Date: 2011-01

Variant appearance in text: rs2228576

PubMed Link: 20837493

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Kuehl, Karen K; Loffredo, Christopher C; Lammer, Edward J EJ; Iovannisci, David M DM; Shaw, Gary M GM

Publication Date: 2010-02

Variant appearance in text: rs2228576

PubMed Link: 19764075

Variant Present in the following documents:

• Main text

View BVdb publication page

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A candidate gene association study of 77 polymorphisms in migraine.

The Journal Of Pain

Schürks, Markus M; Kurth, Tobias T; Buring, Julie E JE; Zee, Robert Y L RY

Publication Date: 2009-07

Variant appearance in text: rs2228576

PubMed Link: 19559392

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

Journal Of Hypertension

Conen, David D; Cheng, Suzanne S; Steiner, Lori L LL; Buring, Julie E JE; Ridker, Paul M PM; Zee, Robert Y L RY

Publication Date: 2009-03

Variant appearance in text: rs2228576

PubMed Link: 19330901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

Zee, Robert Y L RY; Bubes, Vadim V; Shrivastava, Sanjay S; Ridker, Paul M PM; Glynn, Robert J RJ

Publication Date: 2009-04

Variant appearance in text: rs2228576

PubMed Link: 19263529

Variant Present in the following documents:

• Main text

View BVdb publication page

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A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke

Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,

Publication Date: 2009-03

Variant appearance in text: rs2228576

PubMed Link: 19131662

Variant Present in the following documents:

• Main text

View BVdb publication page

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New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics

Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E

Publication Date: 2008-05-30

Variant appearance in text: rs2228576

PubMed Link: 18513389

Variant Present in the following documents:

• Main text
• 1471-2105-9-254.pdf

View BVdb publication page

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