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: rs1169310

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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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: rs1169310

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs1169310

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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: rs1169310

PubMed Link: 36241656

Variant Present in the following documents:

• 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: rs1169310

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Fruit and Vegetable Consumption Interacts With HNF1A Variants on the C-Reactive Protein.

Frontiers In Nutrition

Shin, Dayeon D; Lee, Kyung Won KW

Publication Date: 2022

Variant appearance in text: rs1169310

PubMed Link: 35873425

Variant Present in the following documents:

• Main text
• fnut-09-900867.pdf

View BVdb publication page

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Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

International Journal Of Pediatrics & Adolescent Medicine

Trhanint, Said S; Bouguenouch, Laila L; Abourazzak, Sana S; El Ouahabi, Hanan H; Latrech, Hanane H; Benyakhlef, Salma S; Bennani, Bahia B; El Bouchikhi, Ihssane I; Moufid, Fatima Zahra FZ; Ouldim, Karim K; El Ghadraoui, Lahsen L; Maazouzi, Nadia N

Publication Date: 2022-06

Variant appearance in text: rs1169310

PubMed Link: 35663783

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.

American Journal Of Human Genetics

Smith, Samuel Pattillo SP; Shahamatdar, Sahar S; Cheng, Wei W; Zhang, Selena S; Paik, Joseph J; Graff, Misa M; Haiman, Christopher C; Matise, T C TC; North, Kari E KE; Peters, Ulrike U; Kenny, Eimear E; Gignoux, Chris C; Wojcik, Genevieve G; Crawford, Lorin L; Ramachandran, Sohini S

Publication Date: 2022-05-05

Variant appearance in text: rs1169310

PubMed Link: 35349783

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Quantile-dependent expressivity of serum C-reactive protein concentrations in family sets.

Peerj

Williams, Paul T PT

Publication Date: 2021

Variant appearance in text: rs1169310

PubMed Link: 33628645

Variant Present in the following documents:

• Main text
• peerj-09-10914.pdf

View BVdb publication page

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Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.

Aids (London, England)

Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,

Publication Date: 2021-02-02

Variant appearance in text: rs1169310

PubMed Link: 33095540

Variant Present in the following documents:

• aids-35-193-s001.xlsx, sheet 2

View BVdb publication page

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Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the CEL Gene.

Advanced Biomedical Research

Sarmadi, Akram A; Mohammadi, Aliasgar A; Tabatabaei, Fatemeh F; Nouri, Zahra Z; Chaleshtori, Morteza Hashemzadeh MH; Tabatabaiefar, Mohammad Amin MA

Publication Date: 2020

Variant appearance in text: rs1169310

PubMed Link: 33072637

Variant Present in the following documents:

• Main text
• ABR-9-25.pdf

View BVdb publication page

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Genome-wide Association Analysis of Proinflammatory Cytokines and Gene-lifestyle Interaction for Invasive Breast Cancer Risk: The WHI dbGaP Study.

Cancer Prevention Research (Philadelphia, Pa.)

Jung, Su Yon SY; Scott, Peter A PA; Papp, Jeanette C JC; Sobel, Eric M EM; Pellegrini, Matteo M; Yu, Herbert H; Han, Sihao S; Zhang, Zuo-Feng ZF

Publication Date: 2021-01

Variant appearance in text: rs1169310

PubMed Link: 32928877

Variant Present in the following documents:

• Main text

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: rs1169310

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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Association of Common Variants in HNF1A Gene with Serum AFP Level in Healthy Chinese Individuals and HCC Patients.

Disease Markers

Li, Xue-Jun XJ; Shao, Dong-Hua DH; He, Mei-Lin ML; Liang, Guo-Wei GW

Publication Date: 2019

Variant appearance in text: rs1169310

PubMed Link: 31915469

Variant Present in the following documents:

• Main text
• DM2019-6273497.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: rs1169310

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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Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study.

Plos One

Best, Lyle G LG; Balakrishnan, Poojitha P; Cole, Shelley A SA; Haack, Karin K; Kocarnik, Jonathan M JM; Pankratz, Nathan N; Anderson, Matthew Z MZ; Franceschini, Nora N; Howard, Barbara V BV; Lee, Elisa T ET; North, Kari E KE; Umans, Jason G JG; Yracheta, Joseph M JM; Navas-Acien, Ana A; Voruganti, V Saroja VS

Publication Date: 2019

Variant appearance in text: rs1169310

PubMed Link: 31622379

Variant Present in the following documents:

• Main text
• pone.0223574.pdf

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: rs1169310

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Improved Progression-Free Survival in Irinotecan-Treated Metastatic Colorectal Cancer Patients Carrying the HNF1A Coding Variant p.I27L.

Frontiers In Pharmacology

Labriet, Adrien A; De Mattia, Elena E; Cecchin, Erika E; Lévesque, Éric É; Jonker, Derek D; Couture, Félix F; Buonadonna, Angela A; D'Andrea, Mario M; Villeneuve, Lyne L; Toffoli, Giuseppe G; Guillemette, Chantal C

Publication Date: 2017

Variant appearance in text: rs1169310

PubMed Link: 29066969

Variant Present in the following documents:

• Table_1.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: rs1169310

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs1169310

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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New insights from monogenic diabetes for "common" type 2 diabetes.

Frontiers In Genetics

Tallapragada, Divya Sri Priyanka DS; Bhaskar, Seema S; Chandak, Giriraj R GR

Publication Date: 2015

Variant appearance in text: rs1169310

PubMed Link: 26300908

Variant Present in the following documents:

• Main text
• fgene-06-00251.pdf

View BVdb publication page

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A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Disease Markers

Wakil, Salma M SM; Muiya, Nzioka P NP; Tahir, Asma I AI; Al-Najai, Mohammed M; Baz, Batoul B; Andres, Editha E; Mazhar, Nejat N; Al Tassan, Nada N; Alshahid, Maie M; Meyer, Brian F BF; Dzimiri, Nduna N

Publication Date: 2014

Variant appearance in text: rs1169310

PubMed Link: 25057215

Variant Present in the following documents:

• Main text

View BVdb publication page

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New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.

Plos One

Vinayagamoorthy, Nadimuthu N; Hu, Hae-Jin HJ; Yim, Seon-Hee SH; Jung, Seung-Hyun SH; Jo, Jaeseong J; Jee, Sun Ha SH; Chung, Yeun-Jun YJ

Publication Date: 2014

Variant appearance in text: rs1169310

PubMed Link: 24763700

Variant Present in the following documents:

• Main text
• pone.0095866.pdf

View BVdb publication page

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Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?

Plos One

Dorajoo, Rajkumar R; Li, Ruoying R; Ikram, Mohammad Kamran MK; Liu, Jianjun J; Froguel, Philippe P; Lee, Jeannette J; Sim, Xueling X; Ong, Rick Twee-Hee RT; Tay, Wan Ting WT; Peng, Chen C; Young, Terri L TL; Blakemore, Alexandra I F AI; Cheng, Ching Yu CY; Aung, Tin T; Mitchell, Paul P; Wang, Jie Jin JJ; Klaver, Caroline C CC; Boerwinkle, Eric E; Klein, Ronald R; Siscovick, David S DS; Jensen, Richard A RA; Gudnason, Vilmundur V; Smith, Albert Vernon AV; Teo, Yik Ying YY; Wong, Tien Yin TY; Tai, E-Shyong ES; Heng, Chew-Kiat CK; Friedlander, Yechiel Y

Publication Date: 2013

Variant appearance in text: rs1169310

PubMed Link: 23844046

Variant Present in the following documents:

• Main text
• pone.0067650.pdf

View BVdb publication page

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Anorectal atresia and variants at predicted regulatory sites in candidate genes.

Annals Of Human Genetics

Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL

Publication Date: 2013-01

Variant appearance in text: rs1169310

PubMed Link: 23127126

Variant Present in the following documents:

• Main text

View BVdb publication page

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C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans.

Human Molecular Genetics

Doumatey, Ayo P AP; Chen, Guanjie G; Tekola Ayele, Fasil F; Zhou, Jie J; Erdos, Michael M; Shriner, Daniel D; Huang, Hanxia H; Adeleye, Jokotade J; Balogun, Williams W; Fasanmade, Olufemi O; Johnson, Thomas T; Oli, Johnnie J; Okafor, Godfrey G; Amoah, Albert A; Eghan, Benjamin A BA; Agyenim-Boateng, Kofi K; Acheampong, Joseph J; Adebamowo, Clement C; Gerry, Norman P NP; Christman, Michael F MF; Adeyemo, Adebowale A; Rotimi, Charles N CN

Publication Date: 2012-07-01

Variant appearance in text: rs1169310

PubMed Link: 22492993

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

Plos Genetics

Naitza, Silvia S; Porcu, Eleonora E; Steri, Maristella M; Taub, Dennis D DD; Mulas, Antonella A; Xiao, Xiang X; Strait, James J; Dei, Mariano M; Lai, Sandra S; Busonero, Fabio F; Maschio, Andrea A; Usala, Gianluca G; Zoledziewska, Magdalena M; Sidore, Carlo C; Zara, Ilenia I; Pitzalis, Maristella M; Loi, Alessia A; Virdis, Francesca F; Piras, Roberta R; Deidda, Francesca F; Whalen, Michael B MB; Crisponi, Laura L; Concas, Antonio A; Podda, Carlo C; Uzzau, Sergio S; Scheet, Paul P; Longo, Dan L DL; Lakatta, Edward E; Abecasis, Gonçalo R GR; Cao, Antonio A; Schlessinger, David D; Uda, Manuela M; Sanna, Serena S; Cucca, Francesco F

Publication Date: 2012-01

Variant appearance in text: rs1169310

PubMed Link: 22291609

Variant Present in the following documents:

• Main text
• pgen.1002480.pdf

View BVdb publication page

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Genome-wide "pleiotropy scan" identifies HNF1A region as a novel pancreatic cancer susceptibility locus.

Cancer Research

Pierce, Brandon L BL; Ahsan, Habibul H

Publication Date: 2011-07-01

Variant appearance in text: rs1169310

PubMed Link: 21498636

Variant Present in the following documents:

• Main text

View BVdb publication page

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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hindorff, Lucia A LA; Sethupathy, Praveen P; Junkins, Heather A HA; Ramos, Erin M EM; Mehta, Jayashri P JP; Collins, Francis S FS; Manolio, Teri A TA

Publication Date: 2009-06-09

Variant appearance in text: rs1169310

PubMed Link: 19474294

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

American Journal Of Human Genetics

Reiner, Alexander P AP; Barber, Mathew J MJ; Guan, Yongtao Y; Ridker, Paul M PM; Lange, Leslie A LA; Chasman, Daniel I DI; Walston, Jeremy D JD; Cooper, Gregory M GM; Jenny, Nancy S NS; Rieder, Mark J MJ; Durda, J Peter JP; Smith, Joshua D JD; Novembre, John J; Tracy, Russell P RP; Rotter, Jerome I JI; Stephens, Matthew M; Nickerson, Deborah A DA; Krauss, Ronald M RM

Publication Date: 2008-05

Variant appearance in text: rs1169310

PubMed Link: 18439552

Variant Present in the following documents:

• Main text

View BVdb publication page

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