Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: MLX: Q169R

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs665268

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: MLX: Q169R; rs665268

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs665268

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.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: rs665268

PubMed Link: 36241656

Variant Present in the following documents:

• 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: rs665268

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Advances in Takayasu arteritis: An Asia Pacific perspective.

Frontiers In Medicine

Danda, Debashish D; Manikuppam, Prathyusha P; Tian, Xinping X; Harigai, Masayoshi M

Publication Date: 2022

Variant appearance in text: rs665268

PubMed Link: 36045929

Variant Present in the following documents:

• Main text
• fmed-09-952972.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: rs665268

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs665268

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Age-of-onset information helps identify 76 genetic variants associated with allergic disease.

Plos Genetics

Ferreira, Manuel A R MAR; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; Lu, Yi Y; Grosche, Sarah S; Rüschendorf, Franz F; Granell, Raquel R; Brumpton, Ben M BM; Fritsche, Lars G LG; Bhatta, Laxmi L; Gabrielsen, Maiken E ME; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Emami, Nima C NC; Cavazos, Taylor B TB; Witte, John S JS; Szwajda, Agnieszka A; , ; , ; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik Ke PK; Jorgenson, Eric E; Karlsson, Robert R; Paternoster, Lavinia L; Boomsma, Dorret I DI; Almqvist, Catarina C; Lee, Young-Ae YA; Koppelman, Gerard H GH

Publication Date: 2020-06

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 32603359

Variant Present in the following documents:

• pgen.1008725.s024.xls, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: MLX: Gln169Arg

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 11

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: MLX: 506A>G; Q169R; rs665268

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes.

Molecular Metabolism

Khamis, Amna A; Canouil, Mickaël M; Siddiq, Afshan A; Crouch, Hutokshi H; Falchi, Mario M; Bulow, Manon von MV; Ehehalt, Florian F; Marselli, Lorella L; Distler, Marius M; Richter, Daniela D; Weitz, Jürgen J; Bokvist, Krister K; Xenarios, Ioannis I; Thorens, Bernard B; Schulte, Anke M AM; Ibberson, Mark M; Bonnefond, Amelie A; Marchetti, Piero P; Solimena, Michele M; Froguel, Philippe P

Publication Date: 2019-06

Variant appearance in text: rs665268

PubMed Link: 30956117

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: rs665268

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 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs665268

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis.

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

Terao, Chikashi C; Yoshifuji, Hajime H; Matsumura, Takayoshi T; Naruse, Taeko K TK; Ishii, Tomonori T; Nakaoka, Yoshikazu Y; Kirino, Yohei Y; Matsuo, Keitaro K; Origuchi, Tomoki T; Shimizu, Masakazu M; Maejima, Yasuhiro Y; Amiya, Eisuke E; Tamura, Natsuko N; Kawaguchi, Takahisa T; Takahashi, Meiko M; Setoh, Kazuya K; Ohmura, Koichiro K; Watanabe, Ryu R; Horita, Tetsuya T; Atsumi, Tatsuya T; Matsukura, Mitsuru M; Miyata, Tetsuro T; Kochi, Yuta Y; Suda, Toshio T; Tanemoto, Kazuo K; Meguro, Akira A; Okada, Yukinori Y; Ogimoto, Akiyoshi A; Yamamoto, Motohisa M; Takahashi, Hiroki H; Nakayamada, Shingo S; Saito, Kazuyoshi K; Kuwana, Masataka M; Mizuki, Nobuhisa N; Tabara, Yasuharu Y; Ueda, Atsuhisa A; Komuro, Issei I; Kimura, Akinori A; Isobe, Mitsuaki M; Mimori, Tsuneyo T; Matsuda, Fumihiko F

Publication Date: 2018-12-18

Variant appearance in text: rs665268

PubMed Link: 30498034

Variant Present in the following documents:

• Main text

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Single-Nucleotide Polymorphism of the MLX Gene Is Associated With Takayasu Arteritis.

Circulation. Genomic And Precision Medicine

Tamura, Natsuko N; Maejima, Yasuhiro Y; Matsumura, Takayoshi T; Vega, Rick B RB; Amiya, Eisuke E; Ito, Yusuke Y; Shiheido-Watanabe, Yuka Y; Ashikaga, Takashi T; Komuro, Issei I; Kelly, Daniel P DP; Hirao, Kenzo K; Isobe, Mitsuaki M

Publication Date: 2018-10

Variant appearance in text: rs665268

PubMed Link: 30354298

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: rs665268

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Nature Genetics

Mahajan, Anubha A; Wessel, Jennifer J; Willems, Sara M SM; Zhao, Wei W; Robertson, Neil R NR; Chu, Audrey Y AY; Gan, Wei W; Kitajima, Hidetoshi H; Taliun, Daniel D; Rayner, N William NW; Guo, Xiuqing X; Lu, Yingchang Y; Li, Man M; Jensen, Richard A RA; Hu, Yao Y; Huo, Shaofeng S; Lohman, Kurt K KK; Zhang, Weihua W; Cook, James P JP; Prins, Bram Peter BP; Flannick, Jason J; Grarup, Niels N; Trubetskoy, Vassily Vladimirovich VV; Kravic, Jasmina J; Kim, Young Jin YJ; Rybin, Denis V DV; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Meidtner, Karina K; Li-Gao, Ruifang R; Varga, Tibor V TV; Marten, Jonathan J; Li, Jin J; Smith, Albert Vernon AV; An, Ping P; Ligthart, Symen S; Gustafsson, Stefan S; Malerba, Giovanni G; Demirkan, Ayse A; Tajes, Juan Fernandez JF; Steinthorsdottir, Valgerdur V; Wuttke, Matthias M; Lecoeur, Cécile C; Preuss, Michael M; Bielak, Lawrence F LF; Graff, Marielisa M; Highland, Heather M HM; Justice, Anne E AE; Liu, Dajiang J DJ; Marouli, Eirini E; Peloso, Gina Marie GM; Warren, Helen R HR; , ; , ; , ; Afaq, Saima S; Afzal, Shoaib S; Ahlqvist, Emma E; Almgren, Peter P; Amin, Najaf N; Bang, Lia B LB; Bertoni, Alain G AG; Bombieri, Cristina C; Bork-Jensen, Jette J; Brandslund, Ivan I; Brody, Jennifer A JA; Burtt, Noël P NP; Canouil, Mickaël M; Chen, Yii-Der Ida YI; Cho, Yoon Shin YS; Christensen, Cramer C; Eastwood, Sophie V SV; Eckardt, Kai-Uwe KU; Fischer, Krista K; Gambaro, Giovanni G; Giedraitis, Vilmantas V; Grove, Megan L ML; de Haan, Hugoline G HG; Hackinger, Sophie S; Hai, Yang Y; Han, Sohee S; Tybjærg-Hansen, Anne A; Hivert, Marie-France MF; Isomaa, Bo B; Jäger, Susanne S; Jørgensen, Marit E ME; Jørgensen, Torben T; Käräjämäki, Annemari A; Kim, Bong-Jo BJ; Kim, Sung Soo SS; Koistinen, Heikki A HA; Kovacs, Peter P; Kriebel, Jennifer J; Kronenberg, Florian F; Läll, Kristi K; Lange, Leslie A LA; Lee, Jung-Jin JJ; Lehne, Benjamin B; Li, Huaixing H; Lin, Keng-Hung KH; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jun J; Loh, Marie M; Mägi, Reedik R; Mamakou, Vasiliki V; McKean-Cowdin, Roberta R; Nadkarni, Girish G; Neville, Matt M; Nielsen, Sune F SF; Ntalla, Ioanna I; Peyser, Patricia A PA; Rathmann, Wolfgang W; Rice, Kenneth K; Rich, Stephen S SS; Rode, Line L; Rolandsson, Olov O; Schönherr, Sebastian S; Selvin, Elizabeth E; Small, Kerrin S KS; Stančáková, Alena A; Surendran, Praveen P; Taylor, Kent D KD; Teslovich, Tanya M TM; Thorand, Barbara B; Thorleifsson, Gudmar G; Tin, Adrienne A; Tönjes, Anke A; Varbo, Anette A; Witte, Daniel R DR; Wood, Andrew R AR; Yajnik, Pranav P; Yao, Jie J; Yengo, Loïc L; Young, Robin R; Amouyel, Philippe P; Boeing, Heiner H; Boerwinkle, Eric E; Bottinger, Erwin P EP; Chowdhury, Rajiv R; Collins, Francis S FS; Dedoussis, George G; Dehghan, Abbas A; Deloukas, Panos P; Ferrario, Marco M MM; Ferrières, Jean J; Florez, Jose C JC; Frossard, Philippe P; Gudnason, Vilmundur V; Harris, Tamara B TB; Heckbert, Susan R SR; Howson, Joanna M M JMM; Ingelsson, Martin M; Kathiresan, Sekar S; Kee, Frank F; Kuusisto, Johanna J; Langenberg, Claudia C; Launer, Lenore J LJ; Lindgren, Cecilia M CM; Männistö, Satu S; Meitinger, Thomas T; Melander, Olle O; Mohlke, Karen L KL; Moitry, Marie M; Morris, Andrew D AD; Murray, Alison D AD; de Mutsert, Renée R; Orho-Melander, Marju M; Owen, Katharine R KR; Perola, Markus M; Peters, Annette A; Province, Michael A MA; Rasheed, Asif A; Ridker, Paul M PM; Rivadineira, Fernando F; Rosendaal, Frits R FR; Rosengren, Anders H AH; Salomaa, Veikko V; Sheu, Wayne H-H WH; Sladek, Rob R; Smith, Blair H BH; Strauch, Konstantin K; Uitterlinden, André G AG; Varma, Rohit R; Willer, Cristen J CJ; Blüher, Matthias M; Butterworth, Adam S AS; Chambers, John Campbell JC; Chasman, Daniel I DI; Danesh, John J; van Duijn, Cornelia C; Dupuis, Josée J; Franco, Oscar H OH; Franks, Paul W PW; Froguel, Philippe P; Grallert, Harald H; Groop, Leif L; Han, Bok-Ghee BG; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Ingelsson, Erik E; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kooner, Jaspal Singh JS; Köttgen, Anna A; Kuulasmaa, Kari K; Laakso, Markku M; Lin, Xu X; Lind, Lars L; Liu, Yongmei Y; Loos, Ruth J F RJF; Marchini, Jonathan J; Metspalu, Andres A; Mook-Kanamori, Dennis D; Nordestgaard, Børge G BG; Palmer, Colin N A CNA; Pankow, James S JS; Pedersen, Oluf O; Psaty, Bruce M BM; Rauramaa, Rainer R; Sattar, Naveed N; Schulze, Matthias B MB; Soranzo, Nicole N; Spector, Timothy D TD; Stefansson, Kari K; Stumvoll, Michael M; Thorsteinsdottir, Unnur U; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Wareham, Nicholas J NJ; Wilson, James G JG; Zeggini, Eleftheria E; Scott, Robert A RA; Barroso, Inês I; Frayling, Timothy M TM; Goodarzi, Mark O MO; Meigs, James B JB; Boehnke, Michael M; Saleheen, Danish D; Morris, Andrew P AP; Rotter, Jerome I JI; McCarthy, Mark I MI

Publication Date: 2018-04

Variant appearance in text: rs665268

PubMed Link: 29632382

Variant Present in the following documents:

• Main text
• nihms938867.pdf

View BVdb publication page

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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics

Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,

Publication Date: 2018-03-06

Variant appearance in text: rs665268

PubMed Link: 29510755

Variant Present in the following documents:

• 12920_2018_338_MOESM6_ESM.xlsx, sheet 3

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: MLX: Q169R; rs665268

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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The genetics of Takayasu arteritis.

Presse Medicale (Paris, France : 1983)

Renauer, Paul P; Sawalha, Amr H AH

Publication Date: 2017

Variant appearance in text: rs665268

PubMed Link: 28756073

Variant Present in the following documents:

• Main text

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: rs665268

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: MLX: Q169R; rs665268

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Association of FCGR2A/FCGR3A variant rs2099684 with Takayasu arteritis in the Han Chinese population.

Oncotarget

Chen, Si S; Wen, Xiaoting X; Li, Jing J; Li, Yuan Y; Li, Liubing L; Tian, Xinping X; Yuan, Hui H; Zhang, Fengchun F; Li, Yongzhe Y

Publication Date: 2017-03-07

Variant appearance in text: rs665268

PubMed Link: 27769046

Variant Present in the following documents:

• Main text
• oncotarget-08-17239.pdf

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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Single Nucleotide Polymorphism rs10919543 in FCGR2A/FCGR3A Region Confers Susceptibility to Takayasu Arteritis in Chinese Population.

Chinese Medical Journal

Qin, Fang F; Wang, Hu H; Song, Lei L; Lu, Xi-Li XL; Yang, Li-Rui LR; Liang, Er-Peng EP; Wang, Wei W; Zou, Yu-Bao YB; Bian, Jin J; Wu, Hai-Ying HY; Zhou, Xian-Liang XL; Hui, Ru-Tai RT; Zhang, Hui-Min HM; Jiang, Xiong-Jing XJ

Publication Date: 2016-04-05

Variant appearance in text: rs665268

PubMed Link: 26996483

Variant Present in the following documents:

• CMJ-129-854.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: rs665268

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: MLX: Q169R

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs665268

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs665268

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs665268

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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The Association Study between Twenty One Polymorphisms in Seven Candidate Genes and Coronary Heart Diseases in Chinese Han Population.

Plos One

Alobeidy, Barrak F BF; Li, Cong C; Alzobair, Alya A AA; Liu, Tao T; Zhao, Junzhang J; Fang, Yuan Y; Zheng, Fang F

Publication Date: 2013

Variant appearance in text: rs665268

PubMed Link: 23840567

Variant Present in the following documents:

• Main text
• pone.0066976.pdf

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Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population.

American Journal Of Human Genetics

Terao, Chikashi C; Yoshifuji, Hajime H; Kimura, Akinori A; Matsumura, Takayoshi T; Ohmura, Koichiro K; Takahashi, Meiko M; Shimizu, Masakazu M; Kawaguchi, Takahisa T; Chen, Zhiyong Z; Naruse, Taeko K TK; Sato-Otsubo, Aiko A; Ebana, Yusuke Y; Maejima, Yasuhiro Y; Kinoshita, Hideyuki H; Murakami, Kosaku K; Kawabata, Daisuke D; Wada, Yoko Y; Narita, Ichiei I; Tazaki, Junichi J; Kawaguchi, Yasushi Y; Yamanaka, Hisashi H; Yurugi, Kimiko K; Miura, Yasuo Y; Maekawa, Taira T; Ogawa, Seishi S; Komuro, Issei I; Nagai, Ryozo R; Yamada, Ryo R; Tabara, Yasuharu Y; Isobe, Mitsuaki M; Mimori, Tsuneyo T; Matsuda, Fumihiko F

Publication Date: 2013-08-08

Variant appearance in text: rs665268

PubMed Link: 23830516

Variant Present in the following documents:

• Main text

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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: rs665268

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Scientific Reports

Duan, Jubao J; Shi, Jianxin J; Ge, Xijin X; Dölken, Lars L; Moy, Winton W; He, Deli D; Shi, Sandra S; Sanders, Alan R AR; Ross, Jeff J; Gejman, Pablo V PV

Publication Date: 2013

Variant appearance in text: MLX: Q169R; rs665268

PubMed Link: 23422947

Variant Present in the following documents:

• srep01318-s2.xls, sheet 7

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