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: rs4769055

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.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: rs4769055

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs4769055

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

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: rs4769055

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: rs4769055

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: rs4769055

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_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

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: rs4769055

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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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: rs4769055

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Leukotriene A4 hydrolase haplotype, diet and atherosclerosis: a twin study.

Atherosclerosis

Zhao, Jinying J; Goldberg, Jack J; Vaccarino, Viola V

Publication Date: 2013-01

Variant appearance in text: rs4769055

PubMed Link: 23153620

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between gene polymorphisms in fatty acid metabolism pathway and preterm delivery in a US urban black population.

Human Genetics

Liu, Xin X; Wang, Guoying G; Hong, Xiumei X; Tsai, Hui-Ju HJ; Liu, Rong R; Zhang, Shanchun S; Wang, Hongjian H; Pearson, Colleen C; Ortiz, Katherin K; Wang, Deli D; Hirsch, Emmet E; Zuckerman, Barry B; Wang, Xiaobin X

Publication Date: 2012-03

Variant appearance in text: rs4769055

PubMed Link: 21847588

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart study.

Mediators Of Inflammation

Burdon, Kathryn P KP; Rudock, Megan E ME; Lehtinen, Allison B AB; Langefeld, Carl D CD; Bowden, Donald W DW; Register, Thomas C TC; Liu, Yongmei Y; Freedman, Barry I BI; Carr, J Jeffrey JJ; Hedrick, Catherine C CC; Rich, Stephen S SS

Publication Date: 2010

Variant appearance in text: rs4769055

PubMed Link: 20592751

Variant Present in the following documents:

• Main text
• MI2010-170153.pdf

View BVdb publication page

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Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease.

Human Genetics

Assimes, Themistocles L TL; Knowles, Joshua W JW; Priest, James R JR; Basu, Analabha A; Volcik, Kelly A KA; Southwick, Audrey A; Tabor, Holly K HK; Hartiala, Jaana J; Allayee, Hooman H; Grove, Megan L ML; Tabibiazar, Raymond R; Sidney, Stephen S; Fortmann, Stephen P SP; Go, Alan A; Hlatky, Mark M; Iribarren, Carlos C; Boerwinkle, Eric E; Myers, Richard R; Risch, Neil N; Quertermous, Thomas T

Publication Date: 2008-05

Variant appearance in text: rs4769055

PubMed Link: 18369664

Variant Present in the following documents:

• Main text

View BVdb publication page

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Influence of leukotriene gene polymorphisms on chronic rhinosinusitis.

Bmc Medical Genetics

Al-Shemari, Hasan H; Bossé, Yohan Y; Hudson, Thomas J TJ; Cabaluna, Myrna M; Duval, Melanie M; Lemire, Mathieu M; Vallee-Smedja, Sophie S; Frenkiel, Saul S; Desrosiers, Martin M

Publication Date: 2008-03-26

Variant appearance in text: rs4769055

PubMed Link: 18366797

Variant Present in the following documents:

• Main text
• 1471-2350-9-21.pdf

View BVdb publication page

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