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: rs1805419

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs1805419

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells.

Cell & Bioscience

Riaz, Moeen M; Mattisson, Jonas J; Polekhina, Galina G; Bakshi, Andrew A; Halvardson, Jonatan J; Danielsson, Marcus M; Ameur, Adam A; McNeil, John J; Forsberg, Lars A LA; Lacaze, Paul P

Publication Date: 2021-12-12

Variant appearance in text: rs1805419

PubMed Link: 34895331

Variant Present in the following documents:

• 13578_2021_716_MOESM1_ESM.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: BAX: 233+14A>G; rs1805419

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report.

World Journal Of Clinical Cases

Wu, Jian J; Yuan, Yuan Y; Wang, Xin X; Shao, Dong-Ying DY; Liu, Li-Guo LG; He, Jian J; Li, Peng P

Publication Date: 2021-05-06

Variant appearance in text: rs1805419

PubMed Link: 33969094

Variant Present in the following documents:

• Main text

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: rs1805419

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: BAX: 233+14A>G; rs1805419

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Reframing the Biological Basis of Neuroprotection Using Functional Genomics: Differentially Weighted, Time-Dependent Multifactor Pathogenesis of Human Ischemic Brain Damage.

Frontiers In Neurology

Kofke, William A WA; Ren, Yue Y; Augoustides, John G JG; Li, Hongzhe H; Nathanson, Katherine K; Siman, Robert R; Meng, Qing Cheng QC; Bu, Weiming W; Yandrawatthana, Sukanya S; Kositratna, Guy G; Kim, Cecilia C; Bavaria, Joseph E JE

Publication Date: 2018

Variant appearance in text: rs1805419

PubMed Link: 29997569

Variant Present in the following documents:

• Main text
• fneur-09-00497.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: rs1805419

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Prognostic Value of Serum Caspase-Cleaved Cytokeratin-18 Levels before Liver Transplantation for One-Year Survival of Patients with Hepatocellular Carcinoma.

International Journal Of Molecular Sciences

Lorente, Leonardo L; Rodriguez, Sergio T ST; Sanz, Pablo P; Pérez-Cejas, Antonia A; Padilla, Javier J; Díaz, Dácil D; González, Antonio A; Martín, María M MM; Jiménez, Alejandro A; Barrera, Manuel A MA

Publication Date: 2016-09-09

Variant appearance in text: rs1805419

PubMed Link: 27618033

Variant Present in the following documents:

• Main text
• ijms-17-01524.pdf

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: rs1805419

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Association of genetic markers in the BCL-2 family of apoptosis-related genes with endometrial cancer risk in a Chinese population.

Plos One

Dorjgochoo, Tsogzolmaa T; Xiang, Yong-Bing YB; Long, Jirong J; Shi, Jiajun J; Deming, Sandra S; Xu, Wang-Hong WH; Cai, Hui H; Cheng, Jiarong J; Cai, Qiuyin Q; Zheng, Wei W; Shu, Xiao-Ou XO

Publication Date: 2013

Variant appearance in text: rs1805419

PubMed Link: 23637776

Variant Present in the following documents:

• Main text
• pone.0060915.pdf

View BVdb publication page

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Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer.

Plos One

Wang, Xuting X; Chorley, Brian N BN; Pittman, Gary S GS; Kleeberger, Steven R SR; Brothers, John J; Liu, Gang G; Spira, Avrum A; Bell, Douglas A DA

Publication Date: 2010-08-03

Variant appearance in text: rs1805419

PubMed Link: 20689807

Variant Present in the following documents:

• Main text
• pone.0011934.pdf

View BVdb publication page

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Analysis of candidate genes in occurrence and growth of colorectal adenomas.

Journal Of Oncology

Olschwang, Sylviane S; Vernerey, Déwi D; Cottet, Vanessa V; Pariente, Alexandre A; Nalet, Bernard B; Lafon, Jacques J; Faivre, Jean J; Laurent-Puig, Pierre P; Bonithon-Kopp, Claire C; Bonaiti-Pellié, Catherine C

Publication Date: 2009

Variant appearance in text: rs1805419

PubMed Link: 19888426

Variant Present in the following documents:

• Main text
• JO2009-306786.pdf

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1805419

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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