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: rs3815459

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: KCNH2: 3152+22G>A; rs3815459

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: rs3815459

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan.

Pharmacogenomics And Personalized Medicine

Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB

Publication Date: 2020

Variant appearance in text: rs3815459

PubMed Link: 32765042

Variant Present in the following documents:

• Main text
• pgpm-13-199.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: KCNH2: 3152+22G>A; rs3815459

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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Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.

Journal Of Personalized Medicine

Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB

Publication Date: 2020-01-06

Variant appearance in text: rs3815459

PubMed Link: 31935801

Variant Present in the following documents:

• Main text
• jpm-10-00002.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: KCNH2: 3152+22G>A; rs3815459

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 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: rs3815459

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.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: rs3815459

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations.

Heart Rhythm

Avery, Christy L CL; Wassel, Christina L CL; Richard, Melissa A MA; Highland, Heather M HM; Bien, Stephanie S; Zubair, Niha N; Soliman, Elsayed Z EZ; Fornage, Myriam M; Bielinski, Suzette J SJ; Tao, Ran R; Seyerle, Amanda A AA; Shah, Sanjiv J SJ; Lloyd-Jones, Donald M DM; Buyske, Steven S; Rotter, Jerome I JI; Post, Wendy S WS; Rich, Stephen S SS; Hindorff, Lucia A LA; Jeff, Janina M JM; Shohet, Ralph V RV; Sotoodehnia, Nona N; Lin, Dan Yu DY; Whitsel, Eric A EA; Peters, Ulrike U; Haiman, Christopher A CA; Crawford, Dana C DC; Kooperberg, Charles C; North, Kari E KE

Publication Date: 2017-04

Variant appearance in text: rs3815459

PubMed Link: 27988371

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Bmc Genetics

Jin, Tianbo T; Shi, Xugang X; Wang, Li L; Wang, Huijuan H; Feng, Tian T; Kang, Longli L

Publication Date: 2016-05-28

Variant appearance in text: rs3815459

PubMed Link: 27233804

Variant Present in the following documents:

• Main text
• 12863_2016_Article_379.pdf

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China.

International Journal Of Clinical And Experimental Pathology

He, Yongjun Y; Yang, Hua H; Geng, Tingting T; Feng, Tian T; Yuan, Dongya D; Kang, Longli L; Luo, Manling M; Jin, Tianbo T

Publication Date: 2015

Variant appearance in text: rs3815459

PubMed Link: 26722533

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Jin, Tianbo T; Aikemu, Ainiwaer A; Zhang, Mingxi M; Geng, Tingting T; Feng, Tian T; Kang, Longli L; Luo, Man Lin ML

Publication Date: 2015-12-03

Variant appearance in text: rs3815459

PubMed Link: 26632549

Variant Present in the following documents:

• Main text
• medscimonit-21-3769.pdf

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Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Bmc Genetics

Wang, Li L; Aikemu, Ainiwaer A; Yibulayin, Ayiguli A; Du, Shuli S; Geng, Tingting T; Wang, Bo B; Zhang, Yuan Y; Jin, Tianbo T; Yang, Jie J

Publication Date: 2015-06-20

Variant appearance in text: rs3815459

PubMed Link: 26091847

Variant Present in the following documents:

• Main text
• 12863_2015_Article_232.pdf

View BVdb publication page

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Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

Bmc Genetics

Zhang, Jiayi J; Jin, Tianbo T; Yunus, Zulfiya Z; Li, Xiaolan X; Geng, Tingting T; Wang, Hong H; Cui, Yali Y; Chen, Chao C

Publication Date: 2014-09-30

Variant appearance in text: rs3815459

PubMed Link: 25266489

Variant Present in the following documents:

• Main text
• 12863_2014_Article_102.pdf

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs3815459

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation.

Circulation. Cardiovascular Genetics

Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2013-08

Variant appearance in text: rs3815459

PubMed Link: 23963159

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Circulation. Cardiovascular Genetics

Duchatelet, Sabine S; Crotti, Lia L; Peat, Rachel A RA; Denjoy, Isabelle I; Itoh, Hideki H; Berthet, Myriam M; Ohno, Seiko S; Fressart, Véronique V; Monti, Maria Cristina MC; Crocamo, Cristina C; Pedrazzini, Matteo M; Dagradi, Federica F; Vicentini, Alessandro A; Klug, Didier D; Brink, Paul A PA; Goosen, Althea A; Swan, Heikki H; Toivonen, Lauri L; Lahtinen, Annukka M AM; Kontula, Kimmo K; Shimizu, Wataru W; Horie, Minoru M; George, Alfred L AL; Trégouët, David-Alexandre DA; Guicheney, Pascale P; Schwartz, Peter J PJ

Publication Date: 2013-08

Variant appearance in text: rs3815459

PubMed Link: 23856471

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

European Journal Of Human Genetics : Ejhg

Sommariva, Elena E; Pappone, Carlo C; Martinelli Boneschi, Filippo F; Di Resta, Chiara C; Rosaria Carbone, Maria M; Salvi, Erika E; Vergara, Pasquale P; Sala, Simone S; Cusi, Daniele D; Ferrari, Maurizio M; Benedetti, Sara S

Publication Date: 2013-09

Variant appearance in text: rs3815459

PubMed Link: 23321620

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lessons from pharmacogenetics and metoclopramide: toward the right dose of the right drug for the right patient.

Journal Of Clinical Gastroenterology

Camilleri, Michael M; Shin, Andrea A

Publication Date: 2012-07

Variant appearance in text: rs3815459

PubMed Link: 22688139

Variant Present in the following documents:

• Main text

View BVdb publication page

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What are the important subsets of gastroparesis?

Neurogastroenterology And Motility : The Official Journal Of The European Gastrointestinal Motility Society

Camilleri, M M; Grover, M M; Farrugia, G G

Publication Date: 2012-07

Variant appearance in text: rs3815459

PubMed Link: 22626059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

Nature Genetics

Pfeufer, Arne A; Sanna, Serena S; Arking, Dan E DE; Müller, Martina M; Gateva, Vesela V; Fuchsberger, Christian C; Ehret, Georg B GB; Orrú, Marco M; Pattaro, Cristian C; Köttgen, Anna A; Perz, Siegfried S; Usala, Gianluca G; Barbalic, Maja M; Li, Man M; Pütz, Benno B; Scuteri, Angelo A; Prineas, Ronald J RJ; Sinner, Moritz F MF; Gieger, Christian C; Najjar, Samer S SS; Kao, W H Linda WH; Mühleisen, Thomas W TW; Dei, Mariano M; Happle, Christine C; Möhlenkamp, Stefan S; Crisponi, Laura L; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Naitza, Silvia S; Steinbeck, Gerhard G; Marroni, Fabio F; Hicks, Andrew A AA; Lakatta, Edward E; Müller-Myhsok, Bertram B; Pramstaller, Peter P PP; Wichmann, H-Erich HE; Schlessinger, David D; Boerwinkle, Eric E; Meitinger, Thomas T; Uda, Manuela M; Coresh, Josef J; Kääb, Stefan S; Abecasis, Gonçalo R GR; Chakravarti, Aravinda A

Publication Date: 2009-04

Variant appearance in text: rs3815459

PubMed Link: 19305409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variants at ten loci influence QT interval duration in the QTGEN Study.

Nature Genetics

Newton-Cheh, Christopher C; Eijgelsheim, Mark M; Rice, Kenneth M KM; de Bakker, Paul I W PI; Yin, Xiaoyan X; Estrada, Karol K; Bis, Joshua C JC; Marciante, Kristin K; Rivadeneira, Fernando F; Noseworthy, Peter A PA; Sotoodehnia, Nona N; Smith, Nicholas L NL; Rotter, Jerome I JI; Kors, Jan A JA; Witteman, Jacqueline C M JC; Hofman, Albert A; Heckbert, Susan R SR; O'Donnell, Christopher J CJ; Uitterlinden, André G AG; Psaty, Bruce M BM; Lumley, Thomas T; Larson, Martin G MG; Stricker, Bruno H Ch BH

Publication Date: 2009-04

Variant appearance in text: rs3815459

PubMed Link: 19305408

Variant Present in the following documents:

• Main text
• nihms100620.pdf

View BVdb publication page

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Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.

European Journal Of Human Genetics : Ejhg

Gouas, L L; Nicaud, V V; Chaouch, S S; Berthet, M M; Forhan, A A; Tichet, J J; Tiret, L L; Balkau, B B; Guicheney, P P

Publication Date: 2007-09

Variant appearance in text: rs3815459

PubMed Link: 17534376

Variant Present in the following documents:

• Main text

View BVdb publication page

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