Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: SYNE2: W4001*

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: SYNE2: W4001X; rs2781377

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Severe Vincristine-Induced Neuropathic Pain: A Case Report with Pharmacogenetic Analysis and Literature Review.

Pharmacogenomics And Personalized Medicine

Hu, Ya-Hui YH; Li, Gui-Zhou GZ; Long, Jia-Yi JY; Yang, Qing-Yan QY; Zhang, Yong Y; Chen, Feng F; Wang, Yong-Ren YR

Publication Date: 2022

Variant appearance in text: rs2781377

PubMed Link: 36605068

Variant Present in the following documents:

• Main text
• pgpm-15-1029.pdf

View BVdb publication page

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Psoriasis and cardiovascular disease risk in European and East Asian populations: evidence from meta-analysis and Mendelian randomization analysis.

Bmc Medicine

Zhang, Liming L; Wang, Yuxiang Y; Qiu, Li L; Wu, Jian J

Publication Date: 2022-11-01

Variant appearance in text: rs2781377

PubMed Link: 36320003

Variant Present in the following documents:

• Main text
• 12916_2022_Article_2617.pdf

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: SYNE2: W4001X; rs2781377

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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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: rs2781377

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy in Children with Cancer: A Systematic Review and Meta-Analysis.

Cancers

Uittenboogaard, Aniek A; Neutel, Céline L G CLG; Ket, Johannes C F JCF; Njuguna, Festus F; Huitema, Alwin D R ADR; Kaspers, Gertjan J L GJL; van de Velde, Mirjam E ME

Publication Date: 2022-01-26

Variant appearance in text: rs2781377

PubMed Link: 35158880

Variant Present in the following documents:

• Main text
• cancers-14-00612.pdf

View BVdb publication page

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Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy in Children with Cancer: A Systematic Review and Meta-Analysis.

Cancers

Uittenboogaard, Aniek A; Neutel, Céline L G CLG; Ket, Johannes C F JCF; Njuguna, Festus F; Huitema, Alwin D R ADR; Kaspers, Gertjan J L GJL; van de Velde, Mirjam E ME

Publication Date: 2022-01-26

Variant appearance in text: rs2781377

PubMed Link: 35158880

Variant Present in the following documents:

• Main text
• cancers-14-00612.pdf

View BVdb publication page

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Vincristine-Induced Peripheral Neuropathy in Childhood Acute Lymphoblastic Leukemia: Genetic Variation as a Potential Risk Factor.

Frontiers In Pharmacology

Yang, Qing-Yan QY; Hu, Ya-Hui YH; Guo, Hong-Li HL; Xia, Ying Y; Zhang, Yong Y; Fang, Wei-Rong WR; Li, Yun-Man YM; Xu, Jing J; Chen, Feng F; Wang, Yong-Ren YR; Wang, Teng-Fei TF

Publication Date: 2021

Variant appearance in text: rs2781377

PubMed Link: 34955843

Variant Present in the following documents:

• Main text
• fphar-12-771487.pdf

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: SYNE2: 12002G>A; W4001*; rs2781377

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: SYNE2: 12002G>A; W4001*; rs2781377

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.

Genes

Young, Natalie N; Asif, Maria M; Jackson, Matthew M; Fernández-Mayoralas, Daniel Martín DM; de la Peña, Mar Jimenez MJ; Calleja-Pérez, Beatriz B; Álvarez, Sara S; Hunter-Featherstone, Eve E; Noegel, Angelika A AA; Höhne, Wolfgang W; Nürnberg, Peter P; Obara, Boguslaw B; Hussain, Muhammad Sajid MS; Karakesisoglou, Iakowos I; Fernández-Jaén, Alberto A

Publication Date: 2021-08-24

Variant appearance in text: SYNE2: 12002G>A

PubMed Link: 34573277

Variant Present in the following documents:

• Main text
• genes-12-01294.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: SYNE2: 12002G>A; Trp4001Term; rs2781377

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: SYNE2: 12002G>A; Trp4001*

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics as a Tool to Limit Acute and Long-Term Adverse Effects of Chemotherapeutics: An Update in Pediatric Oncology.

Frontiers In Pharmacology

Bernsen, Emma C EC; Hagleitner, Melanie M MM; Kouwenberg, Theodorus W TW; Hanff, Lidwien M LM

Publication Date: 2020

Variant appearance in text: rs2781377

PubMed Link: 32848787

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implementation of Pharmacogenetics to Individualize Treatment Regimens for Children with Acute Lymphoblastic Leukemia.

Pharmacogenomics And Personalized Medicine

Maamari, Dimitri D; El-Khoury, Habib H; Saifi, Omran O; Muwakkit, Samar A SA; Zgheib, Nathalie K NK

Publication Date: 2020

Variant appearance in text: rs2781377

PubMed Link: 32848445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Centrosomal protein72 rs924607 and vincristine-induced neuropathy in pediatric acute lymphocytic leukemia: meta-analysis.

Future Science Oa

Zečkanović, Aida A; Jazbec, Janez J; Kavčič, Marko M

Publication Date: 2020-05-27

Variant appearance in text: rs2781377

PubMed Link: 32802391

Variant Present in the following documents:

• Main text
• fsoa-06-582.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: SYNE2: 12002G>A; W4001X; rs2781377

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: N/A

PubMed Link: 31900393

Variant Present in the following documents:

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: SYNE2: W4001*; rs2781377

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 20

View BVdb publication page

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: N/A

PubMed Link: 31660073

Variant Present in the following documents:

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: SYNE2: 12002G>A; Trp4001Ter; rs2781377

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a Novel Fusion Gene, FAM174A-WWC1, in Early-Onset Colorectal Cancer: Establishment and Characterization of Four Human Cancer Cell Lines from Early-Onset Colorectal Cancers.

Translational Oncology

Kim, Soon-Chan SC; Shin, Rumi R; Seo, Ha-Young HY; Kim, Minjung M; Park, Ji Won JW; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2019-09

Variant appearance in text: SYNE2: W4001*; rs2781377

PubMed Link: 31228769

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Pharmacogenomic and Pharmacotranscriptomic Profiling of Childhood Acute Lymphoblastic Leukemia: Paving the Way to Personalized Treatment.

Genes

Pavlovic, Sonja S; Kotur, Nikola N; Stankovic, Biljana B; Zukic, Branka B; Gasic, Vladimir V; Dokmanovic, Lidija L

Publication Date: 2019-03-01

Variant appearance in text: rs2781377

PubMed Link: 30832275

Variant Present in the following documents:

• Main text
• genes-10-00191.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: SYNE2: 12002G>A; W4001X; rs2781377

PubMed Link: 29974678

Variant Present in the following documents:

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

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: rs2781377

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: SYNE2: W4001X

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Premature termination codons in modern human genomes.

Scientific Reports

Fujikura, Kohei K

Publication Date: 2016-03-02

Variant appearance in text: rs2781377

PubMed Link: 26932450

Variant Present in the following documents:

• srep22468-s1.pdf

View BVdb publication page

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Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.

Plos One

Pan, Chong-Xian CX; Zhang, Hongyong H; Tepper, Clifford G CG; Lin, Tzu-yin TY; Davis, Ryan R RR; Keck, James J; Ghosh, Paramita M PM; Gill, Parkash P; Airhart, Susan S; Bult, Carol C; Gandara, David R DR; Liu, Edison E; de Vere White, Ralph W RW

Publication Date: 2015

Variant appearance in text: SYNE2: 12002G>A; W4001*

PubMed Link: 26270481

Variant Present in the following documents:

• pone.0134346.s006.xlsx, sheet 1
• pone.0134346.s008.xlsx, sheet 1

View BVdb publication page

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Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

Nature Communications

Zuo, Xianbo X; Sun, Liangdan L; Yin, Xianyong X; Gao, Jinping J; Sheng, Yujun Y; Xu, Jinhua J; Zhang, Jianzhong J; He, Chundi C; Qiu, Ying Y; Wen, Guangdong G; Tian, Hongqing H; Zheng, Xiaodong X; Liu, Shengxiu S; Wang, Wenjun W; Li, Weiran W; Cheng, Yuyan Y; Liu, Longdan L; Chang, Yan Y; Wang, Zaixing Z; Li, Zenggang Z; Li, Longnian L; Wu, Jianping J; Fang, Ling L; Shen, Changbing C; Zhou, Fusheng F; Liang, Bo B; Chen, Gang G; Li, Hui H; Cui, Yong Y; Xu, Aie A; Yang, Xueqin X; Hao, Fei F; Xu, Limin L; Fan, Xing X; Li, Yuzhen Y; Wu, Rina R; Wang, Xiuli X; Liu, Xiaoming X; Zheng, Min M; Song, Shunpeng S; Ji, Bihua B; Fang, Hong H; Yu, Jianbin J; Sun, Yongxin Y; Hui, Yan Y; Zhang, Furen F; Yang, Rongya R; Yang, Sen S; Zhang, Xuejun X

Publication Date: 2015-04-09

Variant appearance in text: rs2781377

PubMed Link: 25854761

Variant Present in the following documents:

• Main text
• ncomms7793.pdf

View BVdb publication page

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Environmental and genetic contributors to salivary testosterone levels in infants.

Frontiers In Endocrinology

Xia, Kai K; Yu, Yang Y; Ahn, Mihye M; Zhu, Hongtu H; Zou, Fei F; Gilmore, John H JH; Knickmeyer, Rebecca C RC

Publication Date: 2014

Variant appearance in text: rs2781377

PubMed Link: 25400620

Variant Present in the following documents:

• Main text
• fendo-05-00187.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: rs2781377

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: SYNE2: W4001X; rs2781377

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12

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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