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: rs660594

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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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: rs660594

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

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: rs660594

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs660594

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: rs660594

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Increased brain volume from higher cereal and lower coffee intake: shared genetic determinants and impacts on cognition and metabolism.

Cerebral Cortex (New York, N.Y. : 1991)

Kang, Jujiao J; Jia, Tianye T; Jiao, Zeyu Z; Shen, Chun C; Xie, Chao C; Cheng, Wei W; Sahakian, Barbara J BJ; Waxman, David D; Feng, Jianfeng J

Publication Date: 2022-11-09

Variant appearance in text: rs660594

PubMed Link: 35136970

Variant Present in the following documents:

• supplementary_materials_revised_submit_bhac005.pdf

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: SLC44A4: 1130+72C>T; rs660594

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases.

Clinical Epigenetics

Mortlock, Sally S; Restuadi, Restuadi R; Levien, Rupert R; Girling, Jane E JE; Holdsworth-Carson, Sarah J SJ; Healey, Martin M; Zhu, Zhihong Z; Qi, Ting T; Wu, Yang Y; Lukowski, Samuel W SW; Rogers, Peter A W PAW; Yang, Jian J; McRae, Allan F AF; Fung, Jenny N JN; Montgomery, Grant W GW

Publication Date: 2019-03-14

Variant appearance in text: rs660594

PubMed Link: 30871624

Variant Present in the following documents:

• Main text
• 13148_2019_Article_648.pdf

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs660594

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.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: rs660594

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.

European Journal Of Human Genetics : Ejhg

Gupta, Aditi A; Juyal, Garima G; Sood, Ajit A; Midha, Vandana V; Yamazaki, Keiko K; Vich Vila, Arnau A; Esaki, Motohiro M; Matsui, Toshiyuki T; Takahashi, Atsushi A; Kubo, Michiaki M; Weersma, Rinse K RK; Thelma, B K BK

Publication Date: 2016-01

Variant appearance in text: rs660594

PubMed Link: 27759029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs660594

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.

Human Molecular Genetics

Perry, John R B JR; Hsu, Yi-Hsiang YH; Chasman, Daniel I DI; Johnson, Andrew D AD; Elks, Cathy C; Albrecht, Eva E; Andrulis, Irene L IL; Beesley, Jonathan J; Berenson, Gerald S GS; Bergmann, Sven S; Bojesen, Stig E SE; Bolla, Manjeet K MK; Brown, Judith J; Buring, Julie E JE; Campbell, Harry H; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; Corre, Tanguy T; Couch, Fergus J FJ; Cox, Angela A; Czene, Kamila K; D'adamo, Adamo Pio AP; Davies, Gail G; Deary, Ian J IJ; Dennis, Joe J; Easton, Douglas F DF; Engelhardt, Ellen G EG; Eriksson, Johan G JG; Esko, Tõnu T; Fasching, Peter A PA; Figueroa, Jonine D JD; Flyger, Henrik H; Fraser, Abigail A; Garcia-Closas, Montse M; Gasparini, Paolo P; Gieger, Christian C; Giles, Graham G; Guenel, Pascal P; Hägg, Sara S; Hall, Per P; Hayward, Caroline C; Hopper, John J; Ingelsson, Erik E; , ; Kardia, Sharon L R SL; Kasiman, Katherine K; Knight, Julia A JA; Lahti, Jari J; Lawlor, Debbie A DA; Magnusson, Patrik K E PK; Margolin, Sara S; Marsh, Julie A JA; Metspalu, Andres A; Olson, Janet E JE; Pennell, Craig E CE; Polasek, Ozren O; Rahman, Iffat I; Ridker, Paul M PM; Robino, Antonietta A; Rudan, Igor I; Rudolph, Anja A; Salumets, Andres A; Schmidt, Marjanka K MK; Schoemaker, Minouk J MJ; Smith, Erin N EN; Smith, Jennifer A JA; Southey, Melissa M; Stöckl, Doris D; Swerdlow, Anthony J AJ; Thompson, Deborah J DJ; Truong, Therese T; Ulivi, Sheila S; Waldenberger, Melanie M; Wang, Qin Q; Wild, Sarah S; Wilson, James F JF; Wright, Alan F AF; Zgaga, Lina L; , ; Ong, Ken K KK; Murabito, Joanne M JM; Karasik, David D; Murray, Anna A

Publication Date: 2014-05-01

Variant appearance in text: rs660594

PubMed Link: 24357391

Variant Present in the following documents:

• Main text
• ddt620.pdf

View BVdb publication page

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Genetic determinants of HSP70 gene expression following heat shock.

Human Molecular Genetics

Maugeri, Narelle N; Radhakrishnan, Jayachandran J; Knight, Julian C JC

Publication Date: 2010-12-15

Variant appearance in text: rs660594

PubMed Link: 20876613

Variant Present in the following documents:

• supp_ddq418_ddq418supp.pdf

View BVdb publication page

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