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: rs10939650

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: N/A

PubMed Link: 36409824

Variant Present in the following documents:

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: SLC2A9: T125T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_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: SLC2A9: T125T

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Metagenome-genome-wide association studies reveal human genetic impact on the oral microbiome.

Cell Discovery

Liu, Xiaomin X; Tong, Xin X; Zhu, Jie J; Tian, Liu L; Jie, Zhuye Z; Zou, Yuanqiang Y; Lin, Xiaoqian X; Liang, Hewei H; Li, Wenxi W; Ju, Yanmei Y; Qin, Youwen Y; Zou, Leying L; Lu, Haorong H; Zhu, Shida S; Jin, Xin X; Xu, Xun X; Yang, Huanming H; Wang, Jian J; Zong, Yang Y; Liu, Weibin W; Hou, Yong Y; Jia, Huijue H; Zhang, Tao T

Publication Date: 2021-12-07

Variant appearance in text: rs10939650

PubMed Link: 34873157

Variant Present in the following documents:

• Main text

View BVdb publication page

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Metagenome-genome-wide association studies reveal human genetic impact on the oral microbiome.

Cell Discovery

Liu, Xiaomin X; Tong, Xin X; Zhu, Jie J; Tian, Liu L; Jie, Zhuye Z; Zou, Yuanqiang Y; Lin, Xiaoqian X; Liang, Hewei H; Li, Wenxi W; Ju, Yanmei Y; Qin, Youwen Y; Zou, Leying L; Lu, Haorong H; Zhu, Shida S; Jin, Xin X; Xu, Xun X; Yang, Huanming H; Wang, Jian J; Zong, Yang Y; Liu, Weibin W; Hou, Yong Y; Jia, Huijue H; Zhang, Tao T

Publication Date: 2021-12-07

Variant appearance in text: rs10939650

PubMed Link: 34873157

Variant Present in the following documents:

• Main text

View BVdb publication page

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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.

Biomedicines

Stiburkova, Blanka B; Bohatá, Jana J; Pavelcová, Kateřina K; Tasic, Velibor V; Plaseska-Karanfilska, Dijana D; Cho, Sung-Kweon SK; Potočnaková, Ludmila L; Šaligová, Jana J

Publication Date: 2021-11-03

Variant appearance in text: rs10939650

PubMed Link: 34829836

Variant Present in the following documents:

• Main text
• biomedicines-09-01607.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:

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: rs10939650

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: N/A

PubMed Link: 33420045

Variant Present in the following documents:

View BVdb publication page

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Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences

Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ

Publication Date: 2020-07-01

Variant appearance in text: rs10939650

PubMed Link: 32630231

Variant Present in the following documents:

• ijms-21-04702-s001.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:

View BVdb publication page

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Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study.

Scientific Reports

Chittoor, Geetha G; Haack, Karin K; Balakrishnan, Poojitha P; Bizon, Christopher C; Laston, Sandra S; Best, Lyle G LG; MacCluer, Jean W JW; North, Kari E KE; Umans, Jason G JG; Franceschini, Nora N; Prasad, Gauri G; Macias-Kauffer, Luis L; Villarreal-Molina, Teresa T; Bharadwaj, Dwaipayan D; Canizales-Quinteros, Samuel S; Navas-Acien, Ana A; Cole, Shelley A SA; Voruganti, V S VS

Publication Date: 2019-11-29

Variant appearance in text: rs10939650

PubMed Link: 31784582

Variant Present in the following documents:

• Main text
• 41598_2019_Article_52924.pdf

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: SLC2A9: 375G>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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Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Molecular Genetics & Genomic Medicine

Zhou, Zhaowei Z; Wang, Ke K; Zhou, Juan J; Wang, Can C; Li, Xinde X; Cui, Lingling L; Han, Lin L; Liu, Zhen Z; Ren, Wei W; Wang, Xuefeng X; Zhang, Keke K; Li, Zhiqiang Z; Pan, Dun D; Li, Changgui C; Shi, Yongyong Y

Publication Date: 2019-07

Variant appearance in text: N/A

PubMed Link: 31131560

Variant Present in the following documents:

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: rs10939650

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: rs10939650

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.

Nature Communications

Tin, Adrienne A; Li, Yong Y; Brody, Jennifer A JA; Nutile, Teresa T; Chu, Audrey Y AY; Huffman, Jennifer E JE; Yang, Qiong Q; Chen, Ming-Huei MH; Robinson-Cohen, Cassianne C; Macé, Aurélien A; Liu, Jun J; Demirkan, Ayşe A; Sorice, Rossella R; Sedaghat, Sanaz S; Swen, Melody M; Yu, Bing B; Ghasemi, Sahar S; Teumer, Alexanda A; Vollenweider, Peter P; Ciullo, Marina M; Li, Meng M; Uitterlinden, André G AG; Kraaij, Robert R; Amin, Najaf N; van Rooij, Jeroen J; Kutalik, Zoltán Z; Dehghan, Abbas A; McKnight, Barbara B; van Duijn, Cornelia M CM; Morrison, Alanna A; Psaty, Bruce M BM; Boerwinkle, Eric E; Fox, Caroline S CS; Woodward, Owen M OM; Köttgen, Anna A

Publication Date: 2018-10-12

Variant appearance in text: rs10939650

PubMed Link: 30315176

Variant Present in the following documents:

• 41467_2018_6620_MOESM3_ESM.pdf

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: rs10939650

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American Journal Of Human Genetics

Verma, Anurag A; Lucas, Anastasia A; Verma, Shefali S SS; Zhang, Yu Y; Josyula, Navya N; Khan, Anqa A; Hartzel, Dustin N DN; Lavage, Daniel R DR; Leader, Joseph J; Ritchie, Marylyn D MD; Pendergrass, Sarah A SA

Publication Date: 2018-04-05

Variant appearance in text: rs10939650

PubMed Link: 29606303

Variant Present in the following documents:

• Main text

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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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: rs10939650

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.

Obesity (Silver Spring, Md.)

Sabo, Aniko A; Mishra, Pamela P; Dugan-Perez, Shannon S; Voruganti, V Saroja VS; Kent, Jack W JW; Kalra, Divya D; Cole, Shelley A SA; Comuzzie, Anthony G AG; Muzny, Donna M DM; Gibbs, Richard A RA; Butte, Nancy F NF

Publication Date: 2017-07

Variant appearance in text: rs10939650

PubMed Link: 28508493

Variant Present in the following documents:

• Main text

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: SLC2A9: T125T

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, 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: N/A

PubMed Link: 26549847

Variant Present in the following documents:

View BVdb publication page

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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:

View BVdb publication page

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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:

View BVdb publication page

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Gout: a review of nonmodifiable and modifiable risk factors.

Rheumatic Diseases Clinics Of North America

MacFarlane, Lindsey A LA; Kim, Seoyoung C SC

Publication Date: 2014-11

Variant appearance in text: rs10939650

PubMed Link: 25437279

Variant Present in the following documents:

• Main text

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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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

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Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.

Plos One

Wu, Tao T; Schwender, Holger H; Ruczinski, Ingo I; Murray, Jeffrey C JC; Marazita, Mary L ML; Munger, Ronald G RG; Hetmanski, Jacqueline B JB; Parker, Margaret M MM; Wang, Ping P; Murray, Tanda T; Taub, Margaret M; Li, Shuai S; Redett, Richard J RJ; Fallin, M Daniele MD; Liang, Kung Yee KY; Wu-Chou, Yah Huei YH; Chong, Samuel S SS; Yeow, Vincent V; Ye, Xiaoqian X; Wang, Hong H; Huang, Shangzhi S; Jabs, Ethylin W EW; Shi, Bing B; Wilcox, Allen J AJ; Jee, Sun Ha SH; Scott, Alan F AF; Beaty, Terri H TH

Publication Date: 2014

Variant appearance in text: rs10939650

PubMed Link: 24516586

Variant Present in the following documents:

• Main text
• pone.0088088.pdf

View BVdb publication page

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