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: rs2707466

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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Factors associated with bone thickness: Comparison of the cranium and humerus.

Plos One

Goto, Shimpei S; Kataoka, Keiichi K; Isa, Mutsumi M; Nakamori, Kenji K; Yoshida, Makoto M; Murayama, Sadayuki S; Arasaki, Akira A; Ishida, Hajime H; Kimura, Ryosuke R

Publication Date: 2023

Variant appearance in text: rs2707466

PubMed Link: 36989318

Variant Present in the following documents:

• Main text
• pone.0283636.pdf

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Wnt16 signaling in bone homeostasis and osteoarthristis.

Frontiers In Endocrinology

Ye, Xiaoping X; Liu, Xianwen X

Publication Date: 2022

Variant appearance in text: rs2707466

PubMed Link: 36619549

Variant Present in the following documents:

• Main text
• fendo-13-1095711.pdf

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: rs2707466

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs2707466

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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Variations of Wnt/β-catenin pathway-related genes in susceptibility to knee osteoarthritis: A three-centre case-control study.

Journal Of Cellular And Molecular Medicine

Huang, Yong Y; Jiang, Lifeng L; Yang, Haoyu H; Wu, Lidong L; Xu, Nanwei N; Zhou, Xindie X; Li, Jin J

Publication Date: 2019-12

Variant appearance in text: rs2707466

PubMed Link: 31560818

Variant Present in the following documents:

• Main text
• JCMM-23-8246.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2707466

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2707466

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics

,

Publication Date: 2018-11-27

Variant appearance in text: rs2707466

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

View BVdb publication page

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Computational analyses of obesity associated loci generated by genome-wide association studies.

Plos One

Cheng, Mengrong M; Mei, Bing B; Zhou, Qian Q; Zhang, Manling M; Huang, Han H; Han, Lanchun L; Huang, Qingyang Q

Publication Date: 2018

Variant appearance in text: rs2707466

PubMed Link: 29966015

Variant Present in the following documents:

• Main text
• pone.0199987.pdf

View BVdb publication page

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Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood.

Bmc Medical Genetics

Correa-Rodríguez, María M; Viatte, Sebastien S; Massey, Jonathan J; Schmidt-RioValle, Jacqueline J; Rueda-Medina, Blanca B; Orozco, Gisela G

Publication Date: 2017-10-03

Variant appearance in text: rs2707466

PubMed Link: 28974197

Variant Present in the following documents:

• Main text
• 12881_2017_Article_468.pdf

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: rs2707466

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Functional annotation of Alzheimer's disease associated loci revealed by GWASs.

Plos One

Han, Zengpeng Z; Huang, Han H; Gao, Yue Y; Huang, Qingyang Q

Publication Date: 2017

Variant appearance in text: rs2707466

PubMed Link: 28650998

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple analyses indicate the specific association of NR1I3, C6 and TNN with low hip BMD risk.

Journal Of Genetics And Genomics = Yi Chuan Xue Bao

Han, Ying-Ying YY; Zhao, Lan-Juan LJ; Lin, Yong Y; He, Hao H; Tian, Qing Q; Zhu, Wei W; Shen, Hui H; Chen, Xiang-Ding XD; Deng, Hong-Wen HW

Publication Date: 2017-06-20

Variant appearance in text: rs2707466

PubMed Link: 28629900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic risk score based on the prevalence of vertebral fracture in Japanese women with osteoporosis.

Bone Reports

Zhou, Heying H; Mori, Seijiro S; Ishizaki, Tatsuro T; Takahashi, Atsushi A; Matsuda, Koichi K; Koretsune, Yukihiro Y; Minami, Shiro S; Higashiyama, Masahiko M; Imai, Shinji S; Yoshimori, Kozo K; Doita, Minoru M; Yamada, Akira A; Nagayama, Satoshi S; Kaneko, Kazuo K; Asai, Satoshi S; Shiono, Masaki M; Kubo, Michiaki M; Ito, Hideki H

Publication Date: 2016-12

Variant appearance in text: rs2707466

PubMed Link: 28580384

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Cancer Science

Tode, Naoki N; Kikuchi, Toshiaki T; Sakakibara, Tomohiro T; Hirano, Taizou T; Inoue, Akira A; Ohkouchi, Shinya S; Tamada, Tsutomu T; Okazaki, Tatsuma T; Koarai, Akira A; Sugiura, Hisatoshi H; Niihori, Tetsuya T; Aoki, Yoko Y; Nakayama, Keiko K; Matsumoto, Kunio K; Matsubara, Yoichi Y; Yamamoto, Masayuki M; Watanabe, Akira A; Nukiwa, Toshihiro T; Ichinose, Masakazu M

Publication Date: 2017-06

Variant appearance in text: rs2707466

PubMed Link: 28294470

Variant Present in the following documents:

• CAS-108-1263-s001.pdf

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Computational Characterization of Osteoporosis Associated SNPs and Genes Identified by Genome-Wide Association Studies.

Plos One

Qin, Longjuan L; Liu, Yuyong Y; Wang, Ya Y; Wu, Guiju G; Chen, Jie J; Ye, Weiyuan W; Yang, Jiancai J; Huang, Qingyang Q

Publication Date: 2016

Variant appearance in text: rs2707466

PubMed Link: 26930606

Variant Present in the following documents:

• Main text
• pone.0150070.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2707466

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Human Molecular Genetics

Saal, Howard M HM; Prows, Cynthia A CA; Guerreiro, Iris I; Donlin, Milene M; Knudson, Luke L; Sund, Kristen L KL; Chang, Ching-Fang CF; Brugmann, Samantha A SA; Stottmann, Rolf W RW

Publication Date: 2015-06-15

Variant appearance in text: rs2707466

PubMed Link: 25759469

Variant Present in the following documents:

• Main text

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: rs2707466

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2707466

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

Plos One

Zhu, Jun J; Qiu, Jun J; Magrane, Gregg G; Abedalthagafi, Malak M; Zanko, Andrea A; Golabi, Mahin M; Chehab, Farid F FF

Publication Date: 2012

Variant appearance in text: rs2707466

PubMed Link: 23300646

Variant Present in the following documents:

• Main text
• pone.0052353.pdf

View BVdb publication page

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WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.

Plos Genetics

Zheng, Hou-Feng HF; Tobias, Jon H JH; Duncan, Emma E; Evans, David M DM; Eriksson, Joel J; Paternoster, Lavinia L; Yerges-Armstrong, Laura M LM; Lehtimäki, Terho T; Bergström, Ulrica U; Kähönen, Mika M; Leo, Paul J PJ; Raitakari, Olli O; Laaksonen, Marika M; Nicholson, Geoffrey C GC; Viikari, Jorma J; Ladouceur, Martin M; Lyytikäinen, Leo-Pekka LP; Medina-Gomez, Carolina C; Rivadeneira, Fernando F; Prince, Richard L RL; Sievanen, Harri H; Leslie, William D WD; Mellström, Dan D; Eisman, John A JA; Movérare-Skrtic, Sofia S; Goltzman, David D; Hanley, David A DA; Jones, Graeme G; St Pourcain, Beate B; Xiao, Yongjun Y; Timpson, Nicholas J NJ; Smith, George Davey GD; Reid, Ian R IR; Ring, Susan M SM; Sambrook, Philip N PN; Karlsson, Magnus M; Dennison, Elaine M EM; Kemp, John P JP; Danoy, Patrick P; Sayers, Adrian A; Wilson, Scott G SG; Nethander, Maria M; McCloskey, Eugene E; Vandenput, Liesbeth L; Eastell, Richard R; Liu, Jeff J; Spector, Tim T; Mitchell, Braxton D BD; Streeten, Elizabeth A EA; Brommage, Robert R; Pettersson-Kymmer, Ulrika U; Brown, Matthew A MA; Ohlsson, Claes C; Richards, J Brent JB; Lorentzon, Mattias M

Publication Date: 2012-07

Variant appearance in text: rs2707466

PubMed Link: 22792071

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.

Plos Genetics

Medina-Gomez, Carolina C; Kemp, John P JP; Estrada, Karol K; Eriksson, Joel J; Liu, Jeff J; Reppe, Sjur S; Evans, David M DM; Heppe, Denise H M DH; Vandenput, Liesbeth L; Herrera, Lizbeth L; Ring, Susan M SM; Kruithof, Claudia J CJ; Timpson, Nicholas J NJ; Zillikens, M Carola MC; Olstad, Ole K OK; Zheng, Hou-Feng HF; Richards, J Brent JB; St Pourcain, Beate B; Hofman, Albert A; Jaddoe, Vincent W V VW; Smith, George Davey GD; Lorentzon, Mattias M; Gautvik, Kaare M KM; Uitterlinden, André G AG; Brommage, Robert R; Ohlsson, Claes C; Tobias, Jonathan H JH; Rivadeneira, Fernando F

Publication Date: 2012-07

Variant appearance in text: rs2707466

PubMed Link: 22792070

Variant Present in the following documents:

• Main text
• pgen.1002718.pdf

View BVdb publication page

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