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: rs2118404

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2118404

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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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: rs2118404

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2118404

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: rs2118404

PubMed Link: 30319441

Variant Present in the following documents:

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

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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: rs2118404

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs2118404

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.

Human Molecular Genetics

Graff, Mariaelisa M; Ngwa, Julius S JS; Workalemahu, Tsegaselassie T; Homuth, Georg G; Schipf, Sabine S; Teumer, Alexander A; Völzke, Henry H; Wallaschofski, Henri H; Abecasis, Goncalo R GR; Edward, Lakatta L; Francesco, Cucca C; Sanna, Serena S; Scheet, Paul P; Schlessinger, David D; Sidore, Carlo C; Xiao, Xiangjun X; Wang, Zhaoming Z; Chanock, Stephen J SJ; Jacobs, Kevin B KB; Hayes, Richard B RB; Hu, Frank F; Van Dam, Rob M RM; , ; Crout, Richard J RJ; Marazita, Mary L ML; Shaffer, John R JR; Atwood, Larry D LD; Fox, Caroline S CS; Heard-Costa, Nancy L NL; White, Charles C; Choh, Audrey C AC; Czerwinski, Stefan A SA; Demerath, Ellen W EW; Dyer, Thomas D TD; Towne, Bradford B; Amin, Najaf N; Oostra, Ben A BA; Van Duijn, Cornelia M CM; Zillikens, M Carola MC; Esko, Tõnu T; Nelis, Mari M; Nikopensius, Tit T; Metspalu, Andres A; Strachan, David P DP; Monda, Keri K; Qi, Lu L; North, Kari E KE; Cupples, L Adrienne LA; Gordon-Larsen, Penny P; Berndt, Sonja I SI

Publication Date: 2013-09-01

Variant appearance in text: rs2118404

PubMed Link: 23669352

Variant Present in the following documents:

• Main text

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs2118404

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

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Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response.

Molecular Psychiatry

Wong, M-L ML; Dong, C C; Maestre-Mesa, J J; Licinio, J J

Publication Date: 2008-08

Variant appearance in text: rs2118404

PubMed Link: 18504423

Variant Present in the following documents:

• Main text

View BVdb publication page

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