Publications:

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COVID-19: Focusing on the Link between Inflammation, Vitamin D, MAPK Pathway and Oxidative Stress Genetics.

Antioxidants (Basel, Switzerland)

Cusato, Jessica J; Manca, Alessandra A; Palermiti, Alice A; Mula, Jacopo J; Costanzo, Martina M; Antonucci, Miriam M; Chiara, Francesco F; De Vivo, Elisa Delia ED; Maiese, Domenico D; Ferrara, Micol M; Bonora, Stefano S; Di Perri, Giovanni G; D'Avolio, Antonio A; Calcagno, Andrea A

Publication Date: 2023-05-20

Variant appearance in text: rs3729931

PubMed Link: 37237997

Variant Present in the following documents:

• Main text
• antioxidants-12-01133.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: rs3729931

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: RAF1: 1669-36C>T; rs3729931

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

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: rs3729931

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.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: RAF1: 1669-36C>T; rs3729931

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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Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.

Genes & Diseases

Cerrato-Izaguirre, Dennis D; Chirino, Yolanda I YI; García-Cuellar, Claudia M CM; Santibáñez-Andrade, Miguel M; Prada, Diddier D; Hernández-Guerrero, Angélica A; Larraga, Octavio Alonso OA; Camacho, Javier J; Sánchez-Pérez, Yesennia Y

Publication Date: 2022-07

Variant appearance in text: rs3729931

PubMed Link: 35685475

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications

Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N

Publication Date: 2021-10-15

Variant appearance in text: rs3729931

PubMed Link: 34654805

Variant Present in the following documents:

• 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications

Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N

Publication Date: 2021-10-15

Variant appearance in text: rs3729931

PubMed Link: 34654805

Variant Present in the following documents:

• 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Helicobacter pylori in Human Stomach: The Inconsistencies in Clinical Outcomes and the Probable Causes.

Frontiers In Microbiology

Alexander, Sneha Mary SM; Retnakumar, Radhakrishnan Jayalakshmi RJ; Chouhan, Deepak D; Devi, Thillai Natarajan Barani TNB; Dharmaseelan, Sanjai S; Devadas, Krishnadas K; Thapa, Namrata N; Tamang, Jyoti Prakash JP; Lamtha, Sangey Chhophel SC; Chattopadhyay, Santanu S

Publication Date: 2021

Variant appearance in text: rs3729931

PubMed Link: 34484153

Variant Present in the following documents:

• Main text
• fmicb-12-713955.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: RAF1: 1669-36C>T; rs3729931

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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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs3729931

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in RAS/RAF/MEK/ERK Pathway Are Associated with Gastric Cancer.

Genes

Gonzalez-Hormazabal, Patricio P; Musleh, Maher M; Bustamante, Marco M; Stambuk, Juan J; Pisano, Raul R; Valladares, Hector H; Lanzarini, Enrique E; Chiong, Hector H; Rojas, Jorge J; Suazo, Jose J; Castro, V Gonzalo VG; Jara, Lilian L; Berger, Zoltan Z

Publication Date: 2018-12-28

Variant appearance in text: RAF1: 1669-36C>T; rs3729931

PubMed Link: 30597917

Variant Present in the following documents:

• Main text
• genes-10-00020.pdf

View BVdb publication page

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Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.

American Journal Of Human Genetics

Kraja, Aldi T AT; Liu, Chunyu C; Fetterman, Jessica L JL; Graff, Mariaelisa M; Have, Christian Theil CT; Gu, Charles C; Yanek, Lisa R LR; Feitosa, Mary F MF; Arking, Dan E DE; Chasman, Daniel I DI; Young, Kristin K; Ligthart, Symen S; Hill, W David WD; Weiss, Stefan S; Luan, Jian'an J; Giulianini, Franco F; Li-Gao, Ruifang R; Hartwig, Fernando P FP; Lin, Shiow J SJ; Wang, Lihua L; Richardson, Tom G TG; Yao, Jie J; Fernandez, Eliana P EP; Ghanbari, Mohsen M; Wojczynski, Mary K MK; Lee, Wen-Jane WJ; Argos, Maria M; Armasu, Sebastian M SM; Barve, Ruteja A RA; Ryan, Kathleen A KA; An, Ping P; Baranski, Thomas J TJ; Bielinski, Suzette J SJ; Bowden, Donald W DW; Broeckel, Ulrich U; Christensen, Kaare K; Chu, Audrey Y AY; Corley, Janie J; Cox, Simon R SR; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Cropp, Cheryl D CD; Daw, E Warwick EW; van Heemst, Diana D; de Las Fuentes, Lisa L; Gao, He H; Tzoulaki, Ioanna I; Ahluwalia, Tarunveer S TS; de Mutsert, Renée R; Emery, Leslie S LS; Erzurumluoglu, A Mesut AM; Perry, James A JA; Fu, Mao M; Forouhi, Nita G NG; Gu, Zhenglong Z; Hai, Yang Y; Harris, Sarah E SE; Hemani, Gibran G; Hunt, Steven C SC; Irvin, Marguerite R MR; Jonsson, Anna E AE; Justice, Anne E AE; Kerrison, Nicola D ND; Larson, Nicholas B NB; Lin, Keng-Hung KH; Love-Gregory, Latisha D LD; Mathias, Rasika A RA; Lee, Joseph H JH; Nauck, Matthias M; Noordam, Raymond R; Ong, Ken K KK; Pankow, James J; Patki, Amit A; Pattie, Alison A; Petersmann, Astrid A; Qi, Qibin Q; Ribel-Madsen, Rasmus R; Rohde, Rebecca R; Sandow, Kevin K; Schnurr, Theresia M TM; Sofer, Tamar T; Starr, John M JM; Taylor, Adele M AM; Teumer, Alexander A; Timpson, Nicholas J NJ; de Haan, Hugoline G HG; Wang, Yujie Y; Weeke, Peter E PE; Williams, Christine C; Wu, Hongsheng H; Yang, Wei W; Zeng, Donglin D; Witte, Daniel R DR; Weir, Bruce S BS; Wareham, Nicholas J NJ; Vestergaard, Henrik H; Turner, Stephen T ST; Torp-Pedersen, Christian C; Stergiakouli, Evie E; Sheu, Wayne Huey-Herng WH; Rosendaal, Frits R FR; Ikram, M Arfan MA; Franco, Oscar H OH; Ridker, Paul M PM; Perls, Thomas T TT; Pedersen, Oluf O; Nohr, Ellen A EA; Newman, Anne B AB; Linneberg, Allan A; Langenberg, Claudia C; Kilpeläinen, Tuomas O TO; Kardia, Sharon L R SLR; Jørgensen, Marit E ME; Jørgensen, Torben T; Sørensen, Thorkild I A TIA; Homuth, Georg G; Hansen, Torben T; Goodarzi, Mark O MO; Deary, Ian J IJ; Christensen, Cramer C; Chen, Yii-Der Ida YI; Chakravarti, Aravinda A; Brandslund, Ivan I; Bonnelykke, Klaus K; Taylor, Kent D KD; Wilson, James G JG; Rodriguez, Santiago S; Davies, Gail G; Horta, Bernardo L BL; Thyagarajan, Bharat B; Rao, D C DC; Grarup, Niels N; Davila-Roman, Victor G VG; Hudson, Gavin G; Guo, Xiuqing X; Arnett, Donna K DK; Hayward, Caroline C; Vaidya, Dhananjay D; Mook-Kanamori, Dennis O DO; Tiwari, Hemant K HK; Levy, Daniel D; Loos, Ruth J F RJF; Dehghan, Abbas A; Elliott, Paul P; Malik, Afshan N AN; Scott, Robert A RA; Becker, Diane M DM; de Andrade, Mariza M; Province, Michael A MA; Meigs, James B JB; Rotter, Jerome I JI; North, Kari E KE

Publication Date: 2019-01-03

Variant appearance in text: rs3729931

PubMed Link: 30595373

Variant Present in the following documents:

• Main text

View BVdb publication page

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RAPIDSNPs: A new computational pipeline for rapidly identifying key genetic variants reveals previously unidentified SNPs that are significantly associated with individual platelet responses.

Plos One

Salehe, Bajuna Rashid BR; Jones, Chris Ian CI; Di Fatta, Giuseppe G; McGuffin, Liam James LJ

Publication Date: 2017

Variant appearance in text: rs3729931

PubMed Link: 28441463

Variant Present in the following documents:

• Main text
• pone.0175957.pdf

View BVdb publication page

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Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories.

Plos Computational Biology

Guturu, Harendra H; Chinchali, Sandeep S; Clarke, Shoa L SL; Bejerano, Gill G

Publication Date: 2016-02

Variant appearance in text: rs3729931

PubMed Link: 26845687

Variant Present in the following documents:

• Main text
• pcbi.1004711.pdf

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: rs3729931

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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The influence of the CHIEF pathway on colorectal cancer-specific mortality.

Plos One

Slattery, Martha L ML; Lundgreen, Abbie A

Publication Date: 2014

Variant appearance in text: rs3729931

PubMed Link: 25541970

Variant Present in the following documents:

• Main text
• pone.0116169.pdf

View BVdb publication page

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Clinical outcomes and genome-wide association for a brain methylation site in an antidepressant pharmacogenetics study in Mexican Americans.

The American Journal Of Psychiatry

Wong, Ma-Li ML; Dong, Chuanhui C; Flores, Deborah L DL; Ehrhart-Bornstein, Monika M; Bornstein, Stefan S; Arcos-Burgos, Mauricio M; Licinio, Julio J

Publication Date: 2014-12-01

Variant appearance in text: rs3729931

PubMed Link: 25220861

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic analysis of microRNA targeting impacted by small insertions and deletions in human genome.

Plos One

Bhattacharya, Anindya A; Ziebarth, Jesse D JD; Cui, Yan Y

Publication Date: 2012

Variant appearance in text: rs3729931

PubMed Link: 23049969

Variant Present in the following documents:

• Main text
• pone.0046176.pdf

View BVdb publication page

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MAP kinase genes and colon and rectal cancer.

Carcinogenesis

Slattery, Martha L ML; Lundgreen, Abbie A; Wolff, Roger K RK

Publication Date: 2012-12

Variant appearance in text: rs3729931

PubMed Link: 23027623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

Plos Genetics

Paul, Dirk S DS; Nisbet, James P JP; Yang, Tsun-Po TP; Meacham, Stuart S; Rendon, Augusto A; Hautaviita, Katta K; Tallila, Jonna J; White, Jacqui J; Tijssen, Marloes R MR; Sivapalaratnam, Suthesh S; Basart, Hanneke H; Trip, Mieke D MD; , ; , ; Göttgens, Berthold B; Soranzo, Nicole N; Ouwehand, Willem H WH; Deloukas, Panos P

Publication Date: 2011-06

Variant appearance in text: rs3729931

PubMed Link: 21738486

Variant Present in the following documents:

• Main text
• pgen.1002139.pdf
• pgen.1002139.s016.pdf

View BVdb publication page

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Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

Clinical And Translational Science

Parsa, Afshin A; Chang, Yen-Pei C YP; Kelly, Reagan J RJ; Corretti, Mary C MC; Ryan, Kathleen A KA; Robinson, Shawn W SW; Gottlieb, Stephen S SS; Kardia, Sharon L R SL; Shuldiner, Alan R AR; Liggett, Stephen B SB

Publication Date: 2011-02

Variant appearance in text: rs3729931

PubMed Link: 21348951

Variant Present in the following documents:

• Main text

View BVdb publication page

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Experiences with array-based sequence capture; toward clinical applications.

European Journal Of Human Genetics : Ejhg

Almomani, Rowida R; van der Heijden, Jaap J; Ariyurek, Yavuz Y; Lai, Yuching Y; Bakker, Egbert E; van Galen, Michiel M; Breuning, Martijn H MH; den Dunnen, Johan T JT

Publication Date: 2011-01

Variant appearance in text: rs3729931

PubMed Link: 21102627

Variant Present in the following documents:

View BVdb publication page

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The genetics of normal platelet reactivity.

Blood

Kunicki, Thomas J TJ; Nugent, Diane J DJ

Publication Date: 2010-10-14

Variant appearance in text: rs3729931

PubMed Link: 20610812

Variant Present in the following documents:

• Main text

View BVdb publication page

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