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: rs17020136

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: HEATR5B: 3854-36A>G; rs17020136

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.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: rs17020136

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circulation. Genomic And Precision Medicine

Jimmy Juang, Jyh-Ming JM; Liu, Yen-Bin YB; Julius Chen, Ching-Yu CY; Yu, Qi-You QY; Chattopadhyay, Amrita A; Lin, Lian-Yu LY; Chen, Wen-Jone WJ; Yu, Chih-Chien CC; Huang, Hui-Chun HC; Ho, Li-Ting LT; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Lin, Ting-Tse TT; Liao, Min-Tsun MT; Chen, Jien-Jiun JJ; Sherri Yeh, Shih-Fan SF; Chuang, Jing-Yuan JY; Yang, Dun-Hui DH; Lin, Jiunn-Lee JL; Lu, Tzu-Pin TP; Chuang, Eric Y EY; Ackerman, Michael J MJ

Publication Date: 2020-08

Variant appearance in text: rs17020136

PubMed Link: 32490690

Variant Present in the following documents:

• hcg-13-e002797.pdf
• hcg-13-e002797-s001.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: HEATR5B: 3854-36A>G; rs17020136

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

Genome Biology

Prins, Bram P BP; Mead, Timothy J TJ; Brody, Jennifer A JA; Sveinbjornsson, Gardar G; Ntalla, Ioanna I; Bihlmeyer, Nathan A NA; van den Berg, Marten M; Bork-Jensen, Jette J; Cappellani, Stefania S; Van Duijvenboden, Stefan S; Klena, Nikolai T NT; Gabriel, George C GC; Liu, Xiaoqin X; Gulec, Cagri C; Grarup, Niels N; Haessler, Jeffrey J; Hall, Leanne M LM; Iorio, Annamaria A; Isaacs, Aaron A; Li-Gao, Ruifang R; Lin, Honghuang H; Liu, Ching-Ti CT; Lyytikäinen, Leo-Pekka LP; Marten, Jonathan J; Mei, Hao H; Müller-Nurasyid, Martina M; Orini, Michele M; Padmanabhan, Sandosh S; Radmanesh, Farid F; Ramirez, Julia J; Robino, Antonietta A; Schwartz, Molly M; van Setten, Jessica J; Smith, Albert V AV; Verweij, Niek N; Warren, Helen R HR; Weiss, Stefan S; Alonso, Alvaro A; Arnar, David O DO; Bots, Michiel L ML; de Boer, Rudolf A RA; Dominiczak, Anna F AF; Eijgelsheim, Mark M; Ellinor, Patrick T PT; Guo, Xiuqing X; Felix, Stephan B SB; Harris, Tamara B TB; Hayward, Caroline C; Heckbert, Susan R SR; Huang, Paul L PL; Jukema, J W JW; Kähönen, Mika M; Kors, Jan A JA; Lambiase, Pier D PD; Launer, Lenore J LJ; Li, Man M; Linneberg, Allan A; Nelson, Christopher P CP; Pedersen, Oluf O; Perez, Marco M; Peters, Annette A; Polasek, Ozren O; Psaty, Bruce M BM; Raitakari, Olli T OT; Rice, Kenneth M KM; Rotter, Jerome I JI; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Spector, Tim D TD; Strauch, Konstantin K; Thorsteinsdottir, Unnur U; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Vaartjes, Ilonca I; van der Meer, Peter P; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Wilson, James G JG; Xie, Zhijun Z; Asselbergs, Folkert W FW; Dörr, Marcus M; van Duijn, Cornelia M CM; Gasparini, Paolo P; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; Hansen, Torben T; Kääb, Stefan S; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lin, Henry J HJ; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Conti, Francesco J FJ; Newton-Cheh, Christopher H CH; Rosand, Jonathan J; Rudan, Igor I; Samani, Nilesh J NJ; Sinagra, Gianfranco G; Smith, Blair H BH; Holm, Hilma H; Stricker, Bruno H BH; Ulivi, Sheila S; Sotoodehnia, Nona N; Apte, Suneel S SS; van der Harst, Pim P; Stefansson, Kari K; Munroe, Patricia B PB; Arking, Dan E DE; Lo, Cecilia W CW; Jamshidi, Yalda Y

Publication Date: 2018-07-17

Variant appearance in text: rs17020136

PubMed Link: 30012220

Variant Present in the following documents:

• Main text
• 13059_2018_Article_1457.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: rs17020136

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Current genomics in cardiovascular medicine.

Current Genomics

Sawhney, Vinit V; Brouilette, Scott S; Abrams, Dominic D; Schilling, Richard R; O'Brien, Benjamin B

Publication Date: 2012-09

Variant appearance in text: rs17020136

PubMed Link: 23450299

Variant Present in the following documents:

• Main text
• CG-6-446.pdf

View BVdb publication page

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SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One

Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW

Publication Date: 2013

Variant appearance in text: rs17020136

PubMed Link: 23437344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidemiology and genetics of sudden cardiac death.

Circulation

Deo, Rajat R; Albert, Christine M CM

Publication Date: 2012-01-31

Variant appearance in text: rs17020136

PubMed Link: 22294707

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Nature Genetics

Sotoodehnia, Nona N; Isaacs, Aaron A; de Bakker, Paul I W PI; Dörr, Marcus M; Newton-Cheh, Christopher C; Nolte, Ilja M IM; van der Harst, Pim P; Müller, Martina M; Eijgelsheim, Mark M; Alonso, Alvaro A; Hicks, Andrew A AA; Padmanabhan, Sandosh S; Hayward, Caroline C; Smith, Albert Vernon AV; Polasek, Ozren O; Giovannone, Steven S; Fu, Jingyuan J; Magnani, Jared W JW; Marciante, Kristin D KD; Pfeufer, Arne A; Gharib, Sina A SA; Teumer, Alexander A; Li, Man M; Bis, Joshua C JC; Rivadeneira, Fernando F; Aspelund, Thor T; Köttgen, Anna A; Johnson, Toby T; Rice, Kenneth K; Sie, Mark P S MP; Wang, Ying A YA; Klopp, Norman N; Fuchsberger, Christian C; Wild, Sarah H SH; Mateo Leach, Irene I; Estrada, Karol K; Völker, Uwe U; Wright, Alan F AF; Asselbergs, Folkert W FW; Qu, Jiaxiang J; Chakravarti, Aravinda A; Sinner, Moritz F MF; Kors, Jan A JA; Petersmann, Astrid A; Harris, Tamara B TB; Soliman, Elsayed Z EZ; Munroe, Patricia B PB; Psaty, Bruce M BM; Oostra, Ben A BA; Cupples, L Adrienne LA; Perz, Siegfried S; de Boer, Rudolf A RA; Uitterlinden, André G AG; Völzke, Henry H; Spector, Timothy D TD; Liu, Fang-Yu FY; Boerwinkle, Eric E; Dominiczak, Anna F AF; Rotter, Jerome I JI; van Herpen, Gé G; Levy, Daniel D; Wichmann, H-Erich HE; van Gilst, Wiek H WH; Witteman, Jacqueline C M JC; Kroemer, Heyo K HK; Kao, W H Linda WH; Heckbert, Susan R SR; Meitinger, Thomas T; Hofman, Albert A; Campbell, Harry H; Folsom, Aaron R AR; van Veldhuisen, Dirk J DJ; Schwienbacher, Christine C; O'Donnell, Christopher J CJ; Volpato, Claudia Beu CB; Caulfield, Mark J MJ; Connell, John M JM; Launer, Lenore L; Lu, Xiaowen X; Franke, Lude L; Fehrmann, Rudolf S N RS; te Meerman, Gerard G; Groen, Harry J M HJ; Weersma, Rinse K RK; van den Berg, Leonard H LH; Wijmenga, Cisca C; Ophoff, Roel A RA; Navis, Gerjan G; Rudan, Igor I; Snieder, Harold H; Wilson, James F JF; Pramstaller, Peter P PP; Siscovick, David S DS; Wang, Thomas J TJ; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Felix, Stephan B SB; Fishman, Glenn I GI; Jamshidi, Yalda Y; Stricker, Bruno H Ch BH; Samani, Nilesh J NJ; Kääb, Stefan S; Arking, Dan E DE

Publication Date: 2010-12

Variant appearance in text: rs17020136

PubMed Link: 21076409

Variant Present in the following documents:

• Main text
• nihms247823.pdf
• NIHMS247823-supplement-1.pdf

View BVdb publication page

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