Publications:

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The Allelic Expression of RNA Editing Gene ADARB1 in Hepatocellular Carcinoma Treated with Transarterial Chemoembolization.

Pharmacogenomics And Personalized Medicine

Zeng, Jiajia J; Han, Linyu L; Wang, Teng T; Huang, Linying L; Zheng, Yanxiu Y; Zhang, Nasha N; Li, Ziqiang Z; Yang, Ming M

Publication Date: 2023

Variant appearance in text: rs1127309

PubMed Link: 36970122

Variant Present in the following documents:

• Main text
• pgpm-16-229.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ADAR: V894V

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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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: rs1127309

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_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: rs1127309

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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GPEdit: the genetic and pharmacogenomic landscape of A-to-I RNA editing in cancers.

Nucleic Acids Research

Ruan, Hang H; Li, Qiang Q; Liu, Yuan Y; Liu, Yaoming Y; Lussier, Charles C; Diao, Lixia L; Han, Leng L

Publication Date: 2021-09-17

Variant appearance in text: rs1127309

PubMed Link: 34534336

Variant Present in the following documents:

• Main text
• gkab810.pdf

View BVdb publication page

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GPEdit: the genetic and pharmacogenomic landscape of A-to-I RNA editing in cancers.

Nucleic Acids Research

Ruan, Hang H; Li, Qiang Q; Liu, Yuan Y; Liu, Yaoming Y; Lussier, Charles C; Diao, Lixia L; Han, Leng L

Publication Date: 2022-01-07

Variant appearance in text: rs1127309

PubMed Link: 34534336

Variant Present in the following documents:

• Main text
• gkab810.pdf

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: rs1127309

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1127309

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: N/A

PubMed Link: 31640808

Variant Present in the following documents:

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: ADAR: 2682G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables.

Bmc Genomics

Giacopuzzi, Edoardo E; Gennarelli, Massimo M; Sacco, Chiara C; Filippini, Alice A; Mingardi, Jessica J; Magri, Chiara C; Barbon, Alessandro A

Publication Date: 2018-12-27

Variant appearance in text: rs1127309

PubMed Link: 30587120

Variant Present in the following documents:

• 12864_2018_5364_MOESM1_ESM.pdf

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: rs1127309

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: rs1127309

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1127309

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: N/A

PubMed Link: 29221171

Variant Present in the following documents:

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: N/A

PubMed Link: 28535796

Variant Present in the following documents:

View BVdb publication page

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Pharmacogenomics of chronic hepatitis C therapy with genome-wide association studies.

Journal Of Experimental Pharmacology

Wang, Chun-Hsiang CH; Hwang, Yuchi Y; Lin, Eugene E

Publication Date: 2010

Variant appearance in text: rs1127309

PubMed Link: 27186094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.

Bmc Medical Genomics

Mullany, Lila E LE; Herrick, Jennifer S JS; Wolff, Roger K RK; Buas, Matthew F MF; Slattery, Martha L ML

Publication Date: 2016-04-23

Variant appearance in text: rs1127309

PubMed Link: 27107574

Variant Present in the following documents:

• Main text
• 12920_2016_Article_181.pdf

View BVdb publication page

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Integrative role of vitamin D related and Interleukin-28B genes polymorphism in predicting treatment outcomes of Chronic Hepatitis C.

Bmc Gastroenterology

El-Derany, M O MO; Hamdy, N M NM; Al-Ansari, N L NL; El-Mesallamy, H O HO

Publication Date: 2016-02-24

Variant appearance in text: rs1127309

PubMed Link: 26911666

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.

Chinese Medical Journal

Liu, Jia-Wei JW; , ; Sun, Jun J; Vano-Galvan, Sergio S; Liu, Feng-Xia FX; Wei, Xiu-Xiu XX; Ma, Dong-Lai DL

Publication Date: 2016-01-05

Variant appearance in text: rs1127309

PubMed Link: 26712430

Variant Present in the following documents:

• CMJ-129-33.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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs1127309

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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: N/A

PubMed Link: 24219164

Variant Present in the following documents:

View BVdb publication page

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Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.

Hepatology (Baltimore, Md.)

Welzel, Tania Mara TM; Morgan, Timothy R TR; Bonkovsky, Herbert L HL; Naishadham, Deepa D; Pfeiffer, Ruth M RM; Wright, Elizabeth C EC; Hutchinson, Amy A AA; Crenshaw, Andrew T AT; Bashirova, Arman A; Carrington, Mary M; Dotrang, Myhanh M; Sterling, Richard K RK; Lindsay, Karen L KL; Fontana, Robert J RJ; Lee, William M WM; Di Bisceglie, Adrian M AM; Ghany, Marc G MG; Gretch, David R DR; Chanock, Stephen J SJ; Chung, Raymond T RT; O'Brien, Thomas R TR; ,

Publication Date: 2009-06

Variant appearance in text: rs1127309

PubMed Link: 19434718

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia.

Journal Of Psychiatry & Neuroscience : Jpn

Voineskos, Sophocles S; De Luca, Vincenzo V; Mensah, Albert A; Vincent, John B JB; Potapova, Natalia N; Kennedy, James L JL

Publication Date: 2007-11

Variant appearance in text: rs1127309

PubMed Link: 18043764

Variant Present in the following documents:

• Main text

View BVdb publication page

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