Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs25645

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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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: CSF3: L182L; rs25645

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: rs25645

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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: rs25645

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs25645

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues.

Frontiers In Immunology

Li, Xingang X; Wang, Hao H; Zhu, Yahong Y; Cao, Weijie W; Song, Manshu M; Wang, Youxin Y; Hou, Haifeng H; Lang, Minglin M; Guo, Xiuhua X; Tan, Xuerui X; Han, Jingdong J JJ; Wang, Wei W

Publication Date: 2021

Variant appearance in text: rs25645

PubMed Link: 34804021

Variant Present in the following documents:

• Main text
• fimmu-12-741705.pdf

View BVdb publication page

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Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.

Human Genomics

Ganel, Liron L; Chen, Lei L; Christ, Ryan R; Vangipurapu, Jagadish J; Young, Erica E; Das, Indraniel I; Kanchi, Krishna K; Larson, David D; Regier, Allison A; Abel, Haley H; Kang, Chul Joo CJ; Scott, Alexandra A; Havulinna, Aki A; Chiang, Charleston W K CWK; Service, Susan S; Freimer, Nelson N; Palotie, Aarno A; Ripatti, Samuli S; Kuusisto, Johanna J; Boehnke, Michael M; Laakso, Markku M; Locke, Adam A; Stitziel, Nathan O NO; Hall, Ira M IM

Publication Date: 2021-06-07

Variant appearance in text: rs25645

PubMed Link: 34099068

Variant Present in the following documents:

• Main text
• 40246_2021_335_MOESM1_ESM.pdf
• 40246_2021_Article_335.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: rs25645

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: rs25645

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs25645

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: CSF3: L182L; rs25645

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs25645

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_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: CSF3: 546G>A; rs25645

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.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: rs25645

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: CSF3: L182L; rs25645

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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American Society of Pediatric Hematology/Oncology (ASPHO) Hyatt Regency Minneapolis Minneapolis, MN May 11-14, 2016.

Pediatric Blood & Cancer

Publication Date: 2016-06

Variant appearance in text: rs25645

PubMed Link: 27077670

Variant Present in the following documents:

• Main text

View BVdb publication page

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Granulocyte colony-stimulating factor (G-CSF): A saturated fatty acid-induced myokine with insulin-desensitizing properties in humans.

Molecular Metabolism

Ordelheide, Anna-Maria AM; Gommer, Nadja N; Böhm, Anja A; Hermann, Carina C; Thielker, Inga I; Machicao, Fausto F; Fritsche, Andreas A; Stefan, Norbert N; Häring, Hans-Ulrich HU; Staiger, Harald H

Publication Date: 2016-04

Variant appearance in text: rs25645

PubMed Link: 27069870

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CSF3: L182L; rs25645

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs25645

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

Nature Genetics

Weinhold, Niels N; Johnson, David C DC; Chubb, Daniel D; Chen, Bowang B; Försti, Asta A; Hosking, Fay J FJ; Broderick, Peter P; Ma, Yussanne P YP; Dobbins, Sara E SE; Hose, Dirk D; Walker, Brian A BA; Davies, Faith E FE; Kaiser, Martin F MF; Li, Ni L NL; Gregory, Walter A WA; Jackson, Graham H GH; Witzens-Harig, Mathias M; Neben, Kai K; Hoffmann, Per P; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Eisele, Lewin L; Ross, Fiona M FM; Jauch, Anna A; Goldschmidt, Hartmut H; Houlston, Richard S RS; Morgan, Gareth J GJ; Hemminki, Kari K

Publication Date: 2013-05

Variant appearance in text: rs25645

PubMed Link: 23502783

Variant Present in the following documents:

• NIHMS53125-supplement-1.pdf

View BVdb publication page

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Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation.

Plos One

Yao, Song S; Sucheston, Lara E LE; Smiley, Shannon L SL; Davis, Warren W; Conroy, Jeffrey M JM; Nowak, Norma J NJ; Ambrosone, Christine B CB; McCarthy, Philip L PL; Hahn, Theresa T

Publication Date: 2011

Variant appearance in text: rs25645

PubMed Link: 22022476

Variant Present in the following documents:

• Main text
• pone.0025940.pdf

View BVdb publication page

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Lung cancer susceptibility model based on age, family history and genetic variants.

Plos One

Young, Robert P RP; Hopkins, Raewyn J RJ; Hay, Bryan A BA; Epton, Michael J MJ; Mills, Graham D GD; Black, Peter N PN; Gardner, Heather D HD; Sullivan, Richard R; Gamble, Gregory D GD

Publication Date: 2009

Variant appearance in text: rs25645

PubMed Link: 19390575

Variant Present in the following documents:

View BVdb publication page

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Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.

Blood

Habermann, Thomas M TM; Wang, Sophia S SS; Maurer, Matthew J MJ; Morton, Lindsay M LM; Lynch, Charles F CF; Ansell, Stephen M SM; Hartge, Patricia P; Severson, Richard K RK; Rothman, Nathaniel N; Davis, Scott S; Geyer, Susan M SM; Cozen, Wendy W; Chanock, Stephen J SJ; Cerhan, James R JR

Publication Date: 2008-10-01

Variant appearance in text: rs25645

PubMed Link: 18633131

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.

Blood

Cerhan, James R JR; Wang, Sophia S; Maurer, Matthew J MJ; Ansell, Stephen M SM; Geyer, Susan M SM; Cozen, Wendy W; Morton, Lindsay M LM; Davis, Scott S; Severson, Richard K RK; Rothman, Nathaniel N; Lynch, Charles F CF; Wacholder, Sholom S; Chanock, Stephen J SJ; Habermann, Thomas M TM; Hartge, Patricia P

Publication Date: 2007-06-15

Variant appearance in text: rs25645

PubMed Link: 17327408

Variant Present in the following documents:

• Main text

View BVdb publication page

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