Publications:

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Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.

Genome Medicine

Xin, Junyi J; Du, Mulong M; Gu, Dongying D; Jiang, Kewei K; Wang, Mengyun M; Jin, Mingjuan M; Hu, Yeting Y; Ben, Shuai S; Chen, Silu S; Shao, Wei W; Li, Shuwei S; Chu, Haiyan H; Zhu, Linjun L; Li, Chen C; Chen, Kun K; Ding, Kefeng K; Zhang, Zhengdong Z; Shen, Hongbing H; Wang, Meilin M

Publication Date: 2023-01-24

Variant appearance in text: rs13831

PubMed Link: 36694225

Variant Present in the following documents:

• 13073_2023_1156_MOESM1_ESM.pdf

View BVdb publication page

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Assessment of Body Mass Index, Polygenic Risk Score, and Development of Colorectal Cancer.

Jama Network Open

Chen, Xuechen X; Li, Hengjing H; Mandic, Marko M; Hoffmeister, Michael M; Brenner, Hermann H

Publication Date: 2022-12-01

Variant appearance in text: rs13831

PubMed Link: 36547977

Variant Present in the following documents:

• jamanetwopen-e2248447-s001.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: rs13831

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs13831

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_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: rs13831

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs13831

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Alcohol consumption, polygenic risk score, and early- and late-onset colorectal cancer risk.

Eclinicalmedicine

Chen, Xuechen X; Li, Hengjing H; Guo, Feng F; Hoffmeister, Michael M; Brenner, Hermann H

Publication Date: 2022-07

Variant appearance in text: rs13831

PubMed Link: 35747198

Variant Present in the following documents:

• mmc2.pdf

View BVdb publication page

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Associations of GNAS and RGS Gene Polymorphisms with the Risk of Ritodrine-Induced Adverse Events in Korean Women with Preterm Labor: A Cohort Study.

Pharmaceutics

Jang, Eun-Jeong EJ; Kim, Young-Ju YJ; Hwang, Han-Sung HS; Yee, Jeong J; Gwak, Hye-Sun HS

Publication Date: 2022-06-08

Variant appearance in text: rs13831

PubMed Link: 35745791

Variant Present in the following documents:

• Main text
• pharmaceutics-14-01220.pdf

View BVdb publication page

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Gene polymorphisms of insulin secretion signaling pathway associated with clopidogrel resistance in Han Chinese population.

Journal Of Clinical Laboratory Analysis

Zhong, Jinyan J; Yu, Qinglin Q; Zheng, Nan N; Su, Jia J; Zheng, Xiaowei X; Zheng, Liangrong L; Chen, Xiaomin X

Publication Date: 2021-11

Variant appearance in text: rs13831

PubMed Link: 34609028

Variant Present in the following documents:

• Main text

View BVdb publication page

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Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.

Oncology Letters

Forgacova, Natalia N; Gazdarica, Juraj J; Budis, Jaroslav J; Radvanszky, Jan J; Szemes, Tomas T

Publication Date: 2021-11

Variant appearance in text: rs13831

PubMed Link: 34594420

Variant Present in the following documents:

• Main text
• ol-22-05-13040.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: GNAS: 257+1151A>G; rs13831

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: GNAS: 257+1151A>G; rs13831

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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Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

Gastroenterology

Lu, Yingchang Y; Kweon, Sun-Seog SS; Tanikawa, Chizu C; Jia, Wei-Hua WH; Xiang, Yong-Bing YB; Cai, Qiuyin Q; Zeng, Chenjie C; Schmit, Stephanie L SL; Shin, Aesun A; Matsuo, Keitaro K; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Kim, Jeongseon J; Wen, Wanqing W; Shi, Jiajun J; Guo, Xingyi X; Li, Bingshan B; Wang, Nan N; Zhang, Ben B; Li, Xinxiang X; Shin, Min-Ho MH; Li, Hong-Lan HL; Ren, Zefang Z; Oh, Jae Hwan JH; Oze, Isao I; Ahn, Yoon-Ok YO; Jung, Keum Ji KJ; Conti, David V DV; Schumacher, Fredrick R FR; Rennert, Gad G; Jenkins, Mark A MA; Campbell, Peter T PT; Hoffmeister, Michael M; Casey, Graham G; Gruber, Stephen B SB; Gao, Jing J; Gao, Yu-Tang YT; Pan, Zhi-Zhong ZZ; Kamatani, Yoichiro Y; Zeng, Yi-Xin YX; Shu, Xiao-Ou XO; Long, Jirong J; Matsuda, Koichi K; Zheng, Wei W

Publication Date: 2019-04

Variant appearance in text: rs13831

PubMed Link: 30529582

Variant Present in the following documents:

• Main text

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: rs13831

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study.

Reproductive Biology And Endocrinology : Rb&E

Petry, Clive J CJ; Koulman, Albert A; Lu, Liangjian L; Jenkins, Benjamin B; Furse, Samuel S; Prentice, Philippa P; Matthews, Lee L; Hughes, Ieuan A IA; Acerini, Carlo L CL; Ong, Ken K KK; Dunger, David B DB

Publication Date: 2018-08-29

Variant appearance in text: rs13831

PubMed Link: 30157874

Variant Present in the following documents:

• Main text
• 12958_2018_Article_399.pdf

View BVdb publication page

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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics

Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P

Publication Date: 2018

Variant appearance in text: rs13831

PubMed Link: 29375670

Variant Present in the following documents:

• 13039_2018_357_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs13831

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

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: rs13831

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Inherited variants in genes somatically mutated in thyroid cancer.

Plos One

Campo, Chiara C; Köhler, Aleksandra A; Figlioli, Gisella G; Elisei, Rossella R; Romei, Cristina C; Cipollini, Monica M; Bambi, Franco F; Hemminki, Kari K; Gemignani, Federica F; Landi, Stefano S; Försti, Asta A

Publication Date: 2017

Variant appearance in text: rs13831

PubMed Link: 28410400

Variant Present in the following documents:

• Main text
• pone.0174995.pdf

View BVdb publication page

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Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: rs13831

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 2

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs13831

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Zlojutro, Mark M; Manz, Niklas N; Rangaswamy, Madhavi M; Xuei, Xiaoling X; Flury-Wetherill, Leah L; Koller, Daniel D; Bierut, Laura J LJ; Goate, Alison A; Hesselbrock, Victor V; Kuperman, Samuel S; Nurnberger, John J; Rice, John P JP; Schuckit, Marc A MA; Foroud, Tatiana T; Edenberg, Howard J HJ; Porjesz, Bernice B; Almasy, Laura L

Publication Date: 2011-01

Variant appearance in text: rs13831

PubMed Link: 21184583

Variant Present in the following documents:

• Main text

View BVdb publication page

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