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: rs891512

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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The Genetic Architecture of the Etiology of Lower Extremity Peripheral Artery Disease: Current Knowledge and Future Challenges in the Era of Genomic Medicine.

International Journal Of Molecular Sciences

Butnariu, Lăcrămioara Ionela LI; Gorduza, Eusebiu Vlad EV; Florea, Laura L; Țarcă, Elena E; Moisă, Ștefana Maria ȘM; Tradafir, Laura Mihaela LM; Cojocaru, Elena E; Luca, Alina-Costina AC; Stătescu, Laura L; Bădescu, Minerva Codruța MC

Publication Date: 2022-09-09

Variant appearance in text: rs891512

PubMed Link: 36142394

Variant Present in the following documents:

• Main text
• ijms-23-10481.pdf

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Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)

Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV

Publication Date: 2022-06-09

Variant appearance in text: rs891512

PubMed Link: 35743896

Variant Present in the following documents:

• Main text
• life-12-00865.pdf

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Genetic Variants and Their Associations to Type 2 Diabetes Mellitus Complications in the United Arab Emirates.

Frontiers In Endocrinology

ElHajj Chehadeh, Sarah S; Sayed, Noura S NS; Abdelsamad, Hanin S HS; Almahmeed, Wael W; Khandoker, Ahsan H AH; Jelinek, Herbert F HF; Alsafar, Habiba S HS

Publication Date: 2021

Variant appearance in text: rs891512

PubMed Link: 35069435

Variant Present in the following documents:

• Main text
• fendo-12-751885.pdf

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Association of Genes of the NO Pathway with Altitude Disease and Hypoxic Pulmonary Hypertension.

Journal Of Clinical Medicine

Hannemann, Juliane J; Siques, Patricia P; Schmidt-Hutten, Lena L; Zummack, Julia J; Brito, Julio J; Böger, Rainer R

Publication Date: 2021-12-09

Variant appearance in text: rs891512

PubMed Link: 34945057

Variant Present in the following documents:

• Main text
• jcm-10-05761.pdf

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: rs891512

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.xlsx, sheet 1

View BVdb publication page

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Multifactorial Landscape Parses to Reveal a Predictive Model for Knee Osteoarthritis.

International Journal Of Environmental Research And Public Health

Singh, Monica M; Valecha, Srishti S; Khinda, Rubanpal R; Kumar, Nitin N; Singh, Surinderpal S; Juneja, Pawan K PK; Kaur, Taranpal T; Di Napoli, Mario M; Minhas, Jatinder S JS; Singh, Puneetpal P; Mastana, Sarabjit S

Publication Date: 2021-05-31

Variant appearance in text: rs891512

PubMed Link: 34073132

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: NOS3: 2984+15A>G; rs891512

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: rs891512

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic Scores of eNOS, ACE and VEGFA Genes Are Predictive of Endothelial Dysfunction Associated Osteoporosis in Postmenopausal Women.

International Journal Of Environmental Research And Public Health

Singh, Puneetpal P; Singh, Monica M; Khinda, Rubanpal R; Valecha, Srishti S; Kumar, Nitin N; Singh, Surinderpal S; Juneja, Pawan K PK; Kaur, Taranpal T; Mastana, Sarabjit S

Publication Date: 2021-01-22

Variant appearance in text: rs891512

PubMed Link: 33499313

Variant Present in the following documents:

• Main text
• ijerph-18-00972.pdf

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Sequence Variation in the DDAH1 Gene Predisposes for Delayed Cerebral Ischemia in Subarachnoidal Hemorrhage.

Journal Of Clinical Medicine

Hannemann, Juliane J; Appel, Daniel D; Seeberger-Steinmeister, Miriam M; Brüning, Tabea T; Zummack, Julia J; Böger, Rainer R

Publication Date: 2020-12-01

Variant appearance in text: rs891512

PubMed Link: 33271854

Variant Present in the following documents:

• Main text
• jcm-09-03900.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: NOS3: 2984+15A>G; rs891512

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: NOS3: 2984+15A>G; rs891512

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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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs891512

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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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: NOS3: 2984+15A>G; rs891512

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

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Deep-targeted sequencing of endothelial nitric oxide synthase gene exons uncovers exercise intensity and ethnicity-dependent associations with post-exercise hypotension.

Physiological Reports

Pescatello, Linda S LS; Schifano, Elizabeth D ED; Ash, Garrett I GI; Panza, Gregory A GA; Corso, Lauren M L LML; Chen, Ming-Hui MH; Deshpande, Ved V; Zaleski, Amanda A; Cilhoroz, Burak B; Farinatti, Paulo P; Taylor, Beth A BA; O'Neill, Rachel J RJ; Thompson, Paul D PD

Publication Date: 2017-11

Variant appearance in text: rs891512

PubMed Link: 29180482

Variant Present in the following documents:

• Main text
• PHY2-5-e13510.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: rs891512

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Association of nitric oxide synthase 3 gene polymorphism with the risk of type 2 diabetes.

Biomedical Reports

Garme, Yasaman Y; Saravani, Ramin R; Galavi, Hamid Reza HR

Publication Date: 2017-07

Variant appearance in text: rs891512

PubMed Link: 28685066

Variant Present in the following documents:

• Main text

View BVdb publication page

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Endothelial nitric oxide gene polymorphisms and their association with coronary artery disease in Tunisian population.

Anatolian Journal Of Cardiology

Afef, Letaief L; Leila, Benothmane B; Bassem, Charfeddine C; Samia, Ernez Hajri EH; Jridi, Guider G; Khalifa, Limem L

Publication Date: 2017-01

Variant appearance in text: rs891512

PubMed Link: 27443477

Variant Present in the following documents:

• Main text
• AJC-17-31.pdf

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EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension.

Scientific Reports

Mei, Mei M; Cheng, Guoqiang G; Sun, Bijun B; Yang, Lin L; Wang, Huijun H; Sun, Jinqiao J; Zhou, Wenhao W

Publication Date: 2016-07-18

Variant appearance in text: rs891512

PubMed Link: 27425626

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prediction of complex human diseases from pathway-focused candidate markers by joint estimation of marker effects: case of chronic fatigue syndrome.

Human Genomics

Bhattacharjee, Madhuchhanda M; Rajeevan, Mangalathu S MS; Sillanpää, Mikko J MJ

Publication Date: 2015-06-11

Variant appearance in text: rs891512

PubMed Link: 26063326

Variant Present in the following documents:

• Main text

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Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.

Environmental Health Perspectives

Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y

Publication Date: 2015-05

Variant appearance in text: rs891512

PubMed Link: 25575156

Variant Present in the following documents:

• ehp.1307883.s001.508.pdf

View BVdb publication page

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Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal

Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,

Publication Date: 2012

Variant appearance in text: rs891512

PubMed Link: 25134189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cerebral vasospasm after sub-arachnoid hemorrhage as a clinical predictor and phenotype for genetic association study.

International Journal Of Stroke : Official Journal Of The International Stroke Society

Kim, Hyungsuk H; Crago, Elizabeth E; Kim, Mirim M; Sherwood, Paula P; Conley, Yvette Y; Poloyac, Samuel S; Kerr, Mary M

Publication Date: 2013-12

Variant appearance in text: rs891512

PubMed Link: 22568564

Variant Present in the following documents:

• Main text

View BVdb publication page

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Folate pathway and nonsyndromic cleft lip and palate.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Blanton, Susan H SH; Henry, Robin R RR; Yuan, Quiping Q; Mulliken, John B JB; Stal, Samuel S; Finnell, Richard H RH; Hecht, Jacqueline T JT

Publication Date: 2011-01

Variant appearance in text: rs891512

PubMed Link: 21254359

Variant Present in the following documents:

• Main text

View BVdb publication page

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118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

Bmc Medical Genetics

Shaw, Gary M GM; Lu, Wei W; Zhu, Huiping H; Yang, Wei W; Briggs, Farren B S FB; Carmichael, Suzan L SL; Barcellos, Lisa F LF; Lammer, Edward J EJ; Finnell, Richard H RH

Publication Date: 2009-06-03

Variant appearance in text: rs891512

PubMed Link: 19493349

Variant Present in the following documents:

• Main text

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Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

Bmc Medical Genomics

Kardia, Sharon Lr SL; Greene, M Todd MT; Boerwinkle, Eric E; Turner, Stephen T ST; Kullo, Iftikhar J IJ

Publication Date: 2008-05-15

Variant appearance in text: rs891512

PubMed Link: 18482449

Variant Present in the following documents:

• Main text

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Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.

American Journal Of Hypertension

Vimaleswaran, Karani S KS; Franks, Paul W PW; Barroso, Inês I; Brage, Soren S; Ekelund, Ulf U; Wareham, Nicholas J NJ; Loos, Ruth J F RJ

Publication Date: 2008-03

Variant appearance in text: rs891512

PubMed Link: 18246059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts.

Behavioral And Brain Functions : Bbf

Sáiz, Pilar A PA; García-Portilla, Maria P MP; Paredes, Begoña B; Arango, Celso C; Morales, Blanca B; Alvarez, Victoria V; Coto, Eliecer E; Bascarán, Teresa T; Bousoño, Manuel M; Bobes, Julio J

Publication Date: 2007-07-02

Variant appearance in text: rs891512

PubMed Link: 17605790

Variant Present in the following documents:

• Main text
• 1744-9081-3-32.pdf

View BVdb publication page

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Association of polymorphisms in NOS3 with the ankle-brachial index in hypertensive adults.

Atherosclerosis

Kullo, Iftikhar J IJ; Greene, M Todd MT; Boerwinkle, Eric E; Chu, Jian J; Turner, Stephen T ST; Kardia, Sharon L R SL

Publication Date: 2008-02

Variant appearance in text: rs891512

PubMed Link: 17367796

Variant Present in the following documents:

• Main text

View BVdb publication page

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