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: rs2908004

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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Wnt16 signaling in bone homeostasis and osteoarthristis.

Frontiers In Endocrinology

Ye, Xiaoping X; Liu, Xianwen X

Publication Date: 2022

Variant appearance in text: rs2908004

PubMed Link: 36619549

Variant Present in the following documents:

• Main text
• fendo-13-1095711.pdf

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Associations Between Body Mass Index, WNT16 rs2908004 and Osteoporosis: Findings from Taiwan Biobank.

Journal Of Multidisciplinary Healthcare

Wu, Chi-Ling CL; Nfor, Oswald Ndi ON; Tantoh, Disline Manli DM; Lu, Wen-Yu WY; Liaw, Yung-Po YP

Publication Date: 2022

Variant appearance in text: rs2908004

PubMed Link: 36510504

Variant Present in the following documents:

• Main text
• jmdh-15-2751.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: rs2908004

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2908004

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: rs2908004

PubMed Link: 31560818

Variant Present in the following documents:

• Main text
• JCMM-23-8246.pdf

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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: rs2908004

PubMed Link: 30894629

Variant Present in the following documents:

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

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Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density.

Nature Communications

Chesi, Alessandra A; Wagley, Yadav Y; Johnson, Matthew E ME; Manduchi, Elisabetta E; Su, Chun C; Lu, Sumei S; Leonard, Michelle E ME; Hodge, Kenyaita M KM; Pippin, James A JA; Hankenson, Kurt D KD; Wells, Andrew D AD; Grant, Struan F A SFA

Publication Date: 2019-03-19

Variant appearance in text: rs2908004

PubMed Link: 30890710

Variant Present in the following documents:

• Main text
• 41467_2019_Article_9302.pdf

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: rs2908004

PubMed Link: 30482208

Variant Present in the following documents:

• 12920_2018_423_MOESM1_ESM.pdf

View BVdb publication page

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Genome-wide association studies of brain imaging phenotypes in UK Biobank.

Nature

Elliott, Lloyd T LT; Sharp, Kevin K; Alfaro-Almagro, Fidel F; Shi, Sinan S; Miller, Karla L KL; Douaud, Gwenaëlle G; Marchini, Jonathan J; Smith, Stephen M SM

Publication Date: 2018-10

Variant appearance in text: rs2908004

PubMed Link: 30305740

Variant Present in the following documents:

• 41586_2018_571_MOESM1_ESM.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: rs2908004

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: rs2908004

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs2908004

PubMed Link: 28294470

Variant Present in the following documents:

• CAS-108-1263-s001.pdf

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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: rs2908004

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs2908004

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.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: rs2908004

PubMed Link: 25759469

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.

Plos Genetics

Kemp, John P JP; Medina-Gomez, Carolina C; Estrada, Karol K; St Pourcain, Beate B; Heppe, Denise H M DH; Warrington, Nicole M NM; Oei, Ling L; Ring, Susan M SM; Kruithof, Claudia J CJ; Timpson, Nicholas J NJ; Wolber, Lisa E LE; Reppe, Sjur S; Gautvik, Kaare K; Grundberg, Elin E; Ge, Bing B; van der Eerden, Bram B; van de Peppel, Jeroen J; Hibbs, Matthew A MA; Ackert-Bicknell, Cheryl L CL; Choi, Kwangbom K; Koller, Daniel L DL; Econs, Michael J MJ; Williams, Frances M K FM; Foroud, Tatiana T; Zillikens, M Carola MC; Ohlsson, Claes C; Hofman, Albert A; Uitterlinden, André G AG; Davey Smith, George G; Jaddoe, Vincent W V VW; Tobias, Jonathan H JH; Rivadeneira, Fernando F; Evans, David M DM

Publication Date: 2014-06

Variant appearance in text: rs2908004

PubMed Link: 24945404

Variant Present in the following documents:

• Main text
• pgen.1004423.pdf

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: rs2908004

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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Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm.

Journal Of Medical Genetics

Zheng, Hou-Feng HF; Duncan, Emma L EL; Yerges-Armstrong, Laura M LM; Eriksson, Joel J; Bergström, Ulrica U; Leo, Paul J PJ; Leslie, William D WD; Goltzman, David D; Blangero, John J; Hanley, David A DA; Carless, Melanie A MA; Streeten, Elizabeth A EA; Lorentzon, Mattias M; Brown, Matthew A MA; Spector, Tim D TD; Pettersson-Kymmer, Ulrika U; Ohlsson, Claes C; Mitchell, Braxton D BD; Richards, J Brent JB

Publication Date: 2013-07

Variant appearance in text: rs2908004

PubMed Link: 23572186

Variant Present in the following documents:

• Main text

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: rs2908004

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: rs2908004

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: rs2908004

PubMed Link: 22792070

Variant Present in the following documents:

• Main text
• pgen.1002718.pdf

View BVdb publication page

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