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: rs1063169

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1063169

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Comprehensively Analyzed Macrophage-Regulated Genes Indicate That PSMA2 Promotes Colorectal Cancer Progression.

Frontiers In Oncology

Qi, Jingbo J; Hu, Zhiqiu Z; Liu, Shaoqun S; Li, Fan F; Wang, Sheng S; Wang, Wuqing W; Sheng, Xia X; Feng, Li L

Publication Date: 2020

Variant appearance in text: rs1063169

PubMed Link: 33537240

Variant Present in the following documents:

• Main text
• fonc-10-618902.pdf

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The Association between Periodontitis and Human Colorectal Cancer: Genetic and Pathogenic Linkage.

Life (Basel, Switzerland)

Di Spirito, Federica F; Toti, Paolo P; Pilone, Vincenzo V; Carinci, Francesco F; Lauritano, Dorina D; Sbordone, Ludovico L

Publication Date: 2020-09-18

Variant appearance in text: rs1063169

PubMed Link: 32962181

Variant Present in the following documents:

• Main text
• life-10-00211.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1063169

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Genetic and Neuroimaging Approaches to Understanding Post-Traumatic Stress Disorder.

International Journal Of Molecular Sciences

Nisar, Sabah S; Bhat, Ajaz A AA; Hashem, Sheema S; Syed, Najeeb N; Yadav, Santosh K SK; Uddin, Shahab S; Fakhro, Khalid K; Bagga, Puneet P; Thompson, Paul P; Reddy, Ravinder R; Frenneaux, Michael P MP; Haris, Mohammad M

Publication Date: 2020-06-24

Variant appearance in text: rs1063169

PubMed Link: 32599917

Variant Present in the following documents:

• Main text
• ijms-21-04503.pdf

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Correlation between the rs7101 and rs1063169 polymorphisms in the FOS noncoding region and susceptibility to and prognosis of colorectal cancer.

Medicine

Chen, Hongshu H; Ji, Lijuan L; Liu, Xiuzhen X; Zhong, Jihong J

Publication Date: 2019-06

Variant appearance in text: rs1063169

PubMed Link: 31261535

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrating genome-wide association study with regulatory SNP annotation information identified candidate genes and pathways for schizophrenia.

Aging

Liang, Xiao X; Wang, Sen S; Liu, Li L; Du, Yanan Y; Cheng, Bolun B; Wen, Yan Y; Zhao, Yan Y; Ding, Miao M; Cheng, Shiqiang S; Ma, Mei M; Zhang, Lu L; Qi, Xin X; Li, Ping P; Guo, Xiong X; Zhang, Feng F

Publication Date: 2019-06-07

Variant appearance in text: rs1063169

PubMed Link: 31175266

Variant Present in the following documents:

• Main text
• aging-11-102008.pdf

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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: rs1063169

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: rs1063169

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1063169

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1063169

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk.

Plos One

de Maturana, Evangelina López EL; Ye, Yuanqing Y; Calle, M Luz ML; Rothman, Nathaniel N; Urrea, Víctor V; Kogevinas, Manolis M; Petrus, Sandra S; Chanock, Stephen J SJ; Tardón, Adonina A; García-Closas, Montserrat M; González-Neira, Anna A; Vellalta, Gemma G; Carrato, Alfredo A; Navarro, Arcadi A; Lorente-Galdós, Belén B; Silverman, Debra T DT; Real, Francisco X FX; Wu, Xifeng X; Malats, Núria N

Publication Date: 2013

Variant appearance in text: rs1063169

PubMed Link: 24391818

Variant Present in the following documents:

• Main text
• pone.0083745.pdf

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Genetic susceptibility to refractive error: association of vasoactive intestinal peptide receptor 2 (VIPR2) with high myopia in Chinese.

Plos One

Yiu, Wai Chi WC; Yap, Maurice K H MK; Fung, Wai Yan WY; Ng, Po Wah PW; Yip, Shea Ping SP

Publication Date: 2013

Variant appearance in text: rs1063169

PubMed Link: 23637909

Variant Present in the following documents:

• Main text
• pone.0061805.pdf

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