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: N/A

PubMed Link: 36991000

Variant Present in the following documents:

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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: N/A

PubMed Link: 36467812

Variant Present in the following documents:

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs598126

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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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: rs598126

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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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: rs598126

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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Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.

Molecular Neurobiology

Dunn, P J PJ; Harvey, N R NR; Maksemous, N N; Smith, R A RA; Sutherland, H G HG; Haupt, L M LM; Griffiths, L R LR

Publication Date: 2022-09

Variant appearance in text: rs598126

PubMed Link: 35699875

Variant Present in the following documents:

• Main text
• 12035_2022_Article_2914.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: N/A

PubMed Link: 34054912

Variant Present in the following documents:

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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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

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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: COASY: 972A>G; rs598126

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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The Pathophysiological Role of CoA.

International Journal Of Molecular Sciences

Czumaj, Aleksandra A; Szrok-Jurga, Sylwia S; Hebanowska, Areta A; Turyn, Jacek J; Swierczynski, Julian J; Sledzinski, Tomasz T; Stelmanska, Ewa E

Publication Date: 2020-11-28

Variant appearance in text: rs598126

PubMed Link: 33260564

Variant Present in the following documents:

• Main text
• ijms-21-09057.pdf

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:

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: COASY: 972A>G; rs598126

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Expression profiling of precuneus layer III cathepsin D-immunopositive pyramidal neurons in mild cognitive impairment and Alzheimer's disease: Evidence for neuronal signaling vulnerability.

The Journal Of Comparative Neurology

He, Bin B; Perez, Sylvia E SE; Lee, Sang H SH; Ginsberg, Stephen D SD; Malek-Ahmadi, Michael M; Mufson, Elliott J EJ

Publication Date: 2020-11-01

Variant appearance in text: rs598126

PubMed Link: 32323319

Variant Present in the following documents:

• Main text

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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: rs598126

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:

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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:

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Mitochondrial pyruvate import is a metabolic vulnerability in androgen receptor-driven prostate cancer.

Nature Metabolism

Bader, David A DA; Hartig, Sean M SM; Putluri, Vasanta V; Foley, Christopher C; Hamilton, Mark P MP; Smith, Eric A EA; Saha, Pradip K PK; Panigrahi, Anil A; Walker, Christopher C; Zong, Lin L; Martini-Stoica, Heidi H; Chen, Rui R; Rajapakshe, Kimal K; Coarfa, Cristian C; Sreekumar, Arun A; Mitsiades, Nicholas N; Bankson, James A JA; Ittmann, Michael M MM; O'Malley, Bert W BW; Putluri, Nagireddy N; McGuire, Sean E SE

Publication Date: 2019-01

Variant appearance in text: rs598126

PubMed Link: 31198906

Variant Present in the following documents:

• NIHMS1508495-supplement-Data_Set_1.xlsx, sheet 6
• NIHMS1508495-supplement-Data_Set_1.xlsx, sheet 5

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: COASY: 972A>G

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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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: rs598126

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: COASY: 972A>G; rs598126

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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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: N/A

PubMed Link: 29974678

Variant Present in the following documents:

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:

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Epidemiology of estrogen and dementia in women with Down syndrome.

Free Radical Biology & Medicine

Schupf, Nicole N; Lee, Joseph H JH; Pang, Deborah D; Zigman, Warren B WB; Tycko, Benjamin B; Krinsky-McHale, Sharon S; Silverman, Wayne W

Publication Date: 2018-01

Variant appearance in text: rs598126

PubMed Link: 28843780

Variant Present in the following documents:

• Main text

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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: rs598126

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: N/A

PubMed Link: 28535796

Variant Present in the following documents:

View BVdb publication page

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Molecular basis for prostate cancer racial disparities.

Frontiers In Bioscience (Landmark Edition)

Singh, Santosh K SK; Lillard, James W JW; Singh, Rajesh R

Publication Date: 2017-01-01

Variant appearance in text: rs598126

PubMed Link: 27814623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current knowledge of the multifunctional 17β-hydroxysteroid dehydrogenase type 1 (HSD17B1).

Gene

He, Wanhong W; Gauri, Misra M; Li, Tang T; Wang, Ruixuan R; Lin, Sheng-Xiang SX

Publication Date: 2016-08-15

Variant appearance in text: rs598126

PubMed Link: 27102893

Variant Present in the following documents:

• Main text

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: N/A

PubMed Link: 25496518

Variant Present in the following documents:

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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:

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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: N/A

PubMed Link: 24490137

Variant Present in the following documents:

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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:

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Ethnical disparities of prostate cancer predisposition: genetic polymorphisms in androgen-related genes.

American Journal Of Cancer Research

Li, Jie J; Mercer, Emma E; Gou, Xin X; Lu, Yong-Jie YJ

Publication Date: 2013

Variant appearance in text: rs598126

PubMed Link: 23593537

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in HSD17B1: Early Onset and Increased Risk of Alzheimer's Disease in Women with Down Syndrome.

Current Gerontology And Geriatrics Research

Lee, Joseph H JH; Gurney, Susan S; Pang, Deborah D; Temkin, Alexis A; Park, Naeun N; Janicki, Sarah C SC; Zigman, Warren B WB; Silverman, Wayne W; Tycko, Benjamin B; Schupf, Nicole N

Publication Date: 2012

Variant appearance in text: rs598126

PubMed Link: 22474448

Variant Present in the following documents:

• Main text
• CGGR2012-361218.pdf

View BVdb publication page

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Polymorphisms in genes involved in the estrogen pathway and mammographic density.

Bmc Cancer

Dumas, Isabelle I; Diorio, Caroline C

Publication Date: 2010-11-22

Variant appearance in text: rs598126

PubMed Link: 21092186

Variant Present in the following documents:

• Main text
• 1471-2407-10-636.pdf

View BVdb publication page

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Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

Carcinogenesis

Freedman, Neal D ND; Ahn, Jiyoung J; Hou, Lifang L; Lissowska, Jolanta J; Zatonski, Witold W; Yeager, Meredith M; Chanock, Stephen J SJ; Chow, Wong Ho WH; Abnet, Christian C CC

Publication Date: 2009-01

Variant appearance in text: rs598126

PubMed Link: 19015200

Variant Present in the following documents:

• Main text

View BVdb publication page

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HSD17B1 genetic variants and hormone receptor-defined breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Gaudet, Mia M MM; Chanock, Stephen S; Dunning, Alison A; Driver, Kristy K; Brinton, Louise A LA; Lissowska, Jolanta J; Peplonska, Beata B; Pharoah, Paul P; Garcia-Closas, Montserrat M

Publication Date: 2008-10

Variant appearance in text: rs598126

PubMed Link: 18843021

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the HSD17B1 gene and risk of prostate cancer.

Plos Genetics

Kraft, Peter P; Pharoah, Paul P; Chanock, Stephen J SJ; Albanes, Demetrius D; Kolonel, Laurence N LN; Hayes, Richard B RB; Altshuler, David D; Andriole, Gerald G; Berg, Christine C; Boeing, Heiner H; Burtt, Noel P NP; Bueno-de-Mesquita, Bas B; Calle, Eugenia E EE; Cann, Howard H; Canzian, Federico F; Chen, Yen-Ching YC; Crawford, David E DE; Dunning, Alison M AM; Feigelson, Heather S HS; Freedman, Matthew L ML; Gaziano, John M JM; Giovannucci, Ed E; Gonzalez, Carlos Alberto CA; Haiman, Christopher A CA; Hallmans, Goran G; Henderson, Brian E BE; Hirschhorn, Joel N JN; Hunter, David J DJ; Kaaks, Rudolf R; Key, Timothy T; Le Marchand, Loic L; Ma, Jing J; Overvad, Kim K; Palli, Domenico D; Pike, Malcolm C MC; Riboli, Elio E; Rodriguez, Carmen C; Setiawan, Wendy V WV; Stampfer, Meir J MJ; Stram, Daniel O DO; Thomas, Gilles G; Thun, Michael J MJ; Travis, Ruth R; Trichopoulou, Antonia A; Virtamo, Jarmo J; Wacholder, Sholom S

Publication Date: 2005-11

Variant appearance in text: rs598126

PubMed Link: 16311626

Variant Present in the following documents:

• pgen.0010068.pdf

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