Publications:

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A partitioned 88-loci psoriasis genetic risk score reveals HLA and non-HLA contributions to clinical phenotypes in a Newfoundland psoriasis cohort.

Frontiers In Genetics

Bui, Audrey A; Kumar, Sugandh S; Liu, Jared J; Orcales, Faye F; Gulliver, Susanne S; Tsoi, Lam C LC; Gulliver, Wayne W; Liao, Wilson W

Publication Date: 2023

Variant appearance in text: rs3747517

PubMed Link: 37323656

Variant Present in the following documents:

• Main text
• fgene-14-1141010.pdf

View BVdb publication page

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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: IFIH1: H843R

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: IFIH1: H843R; rs3747517

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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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: IFIH1: 2528A>G; His843Arg

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency.

Journal Of Clinical Medicine

Jezela-Stanek, Aleksandra A; Chorostowska-Wynimko, Joanna J

Publication Date: 2023-02-21

Variant appearance in text: rs3747517

PubMed Link: 36902496

Variant Present in the following documents:

• Main text
• jcm-12-01708.pdf

View BVdb publication page

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Genetic variants of IFIH1 and DHX58 affect the chronicity of hepatitis C in the Chinese Han population.

Peerj

Huang, Peng P; Wu, Jing-Jing JJ; Zhang, Jin-Wei JW; Hou, Yu-Qing YQ; Zhu, Ping P; Yin, Rong R; Yu, Rong-Bin RB; Zhang, Yun Y; Yue, Ming M; Hou, Wei W

Publication Date: 2023

Variant appearance in text: rs3747517

PubMed Link: 36743960

Variant Present in the following documents:

• Main text
• peerj-11-14740.pdf

View BVdb publication page

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Targeting type I interferons in systemic lupus erythematous.

Frontiers In Pharmacology

Bruera, Sebastian S; Chavula, Thandiwe T; Madan, Riya R; Agarwal, Sandeep K SK

Publication Date: 2022

Variant appearance in text: rs3747517

PubMed Link: 36726783

Variant Present in the following documents:

• Main text
• fphar-13-1046687.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: IFIH1: H843R; rs3747517

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.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: rs3747517

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: IFIH1: 2528A>G; His843Arg; rs3747517

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: IFIH1: H843R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_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: IFIH1: H843R

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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Association Among MIF, IFIH1, and IL6 Gene Polymorphisms and Non-Segmental Vitiligo in a Chinese Han Population.

Clinical, Cosmetic And Investigational Dermatology

Wang, Danfeng D; Min, Shuhui S; Lin, Xiao X; Jiang, Guan G

Publication Date: 2022

Variant appearance in text: IFIH1: H843R; rs3747517

PubMed Link: 35983127

Variant Present in the following documents:

• Main text
• ccid-15-1597.pdf

View BVdb publication page

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Cognitive Process of Psoriasis and Its Comorbidities: From Epidemiology to Genetics.

Frontiers In Genetics

Gao, Jing J; Shen, Xue X; Ko, Randy R; Huang, Cong C; Shen, Changbing C

Publication Date: 2021

Variant appearance in text: rs3747517

PubMed Link: 34899832

Variant Present in the following documents:

• Main text
• fgene-12-735124.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: IFIH1: H843R

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.

International Journal Of Molecular Medicine

Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E

Publication Date: 2022-01

Variant appearance in text: rs3747517

PubMed Link: 34791504

Variant Present in the following documents:

• Main text
• ijmm-49-01-05063.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: IFIH1: H843R; rs3747517

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: IFIH1: H843R; rs3747517

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Alpha-1 antitrypsin deficiency research and emerging treatment strategies: what's down the road?

Therapeutic Advances In Chronic Disease

Rahaghi, Franck F FF

Publication Date: 2021

Variant appearance in text: rs3747517

PubMed Link: 34408832

Variant Present in the following documents:

• Main text
• 10.1177_20406223211014025.pdf

View BVdb publication page

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Genetic Polymorphisms in Genes Involved in the Type I Interferon System (IFIH1/MDA-5, TNFAIP3/A20, and STAT4): Association with SLE Risk in Egyptian Children and Adolescents.

Journal Of Inflammation Research

Zedan, Mohamed M MM; Attia, Zeinab Rizk ZR; Abd El Azeem, Rania A RA; Mutawi, Thuraya M TM; El Shehawy, Amora S AS; Bakr, Ashraf A

Publication Date: 2021

Variant appearance in text: rs3747517

PubMed Link: 34290519

Variant Present in the following documents:

• Main text
• jir-14-3349.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: IFIH1: 2528A>G; H843R; rs3747517

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications

Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX

Publication Date: 2021-05-24

Variant appearance in text: rs3747517

PubMed Link: 34031426

Variant Present in the following documents:

• 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Challenges and Opportunities in Understanding Genetics of Fungal Diseases: Towards a Functional Genomics Approach.

Infection And Immunity

Bruno, Mariolina M; Matzaraki, Vasiliki V; van de Veerdonk, Frank L FL; Kumar, Vinod V; Netea, Mihai G MG

Publication Date: 2021-07-15

Variant appearance in text: rs3747517

PubMed Link: 34031131

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic predisposition in the 2'-5'A pathway in the development of type 1 diabetes: potential contribution to dysregulation of innate antiviral immunity.

Diabetologia

Pedersen, Kristina K; Haupt-Jorgensen, Martin M; Krogvold, Lars L; Kaur, Simranjeet S; Gerling, Ivan C IC; Pociot, Flemming F; Dahl-Jørgensen, Knut K; Buschard, Karsten K

Publication Date: 2021-08

Variant appearance in text: rs3747517

PubMed Link: 33973017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interactions of genetic variants and prenatal stress in relation to the risk for recurrent respiratory infections in children.

Scientific Reports

Korhonen, Laura S LS; Lukkarinen, Minna M; Kantojärvi, Katri K; Räty, Panu P; Karlsson, Hasse H; Paunio, Tiina T; Peltola, Ville V; Karlsson, Linnea L

Publication Date: 2021-04-07

Variant appearance in text: rs3747517

PubMed Link: 33828172

Variant Present in the following documents:

• Main text
• 41598_2021_Article_87211.pdf

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: IFIH1: His843Arg; rs3747517

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: IFIH1: 2528A>G; H843R; rs3747517

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Type 1 diabetes: genes associated with disease development.

Central-European Journal Of Immunology

Klak, Marta M; Gomółka, Magdalena M; Kowalska, Patrycja P; Cichoń, Justyna J; Ambrożkiewicz, Filip F; Serwańska-Świętek, Marta M; Berman, Andrzej A; Wszoła, Michał M

Publication Date: 2020

Variant appearance in text: rs3747517

PubMed Link: 33658892

Variant Present in the following documents:

• Main text
• CEJI-45-43203.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs3747517

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, 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: IFIH1: 2528A>G; H843R; rs3747517

PubMed Link: 33420045

Variant Present in the following documents:

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

View BVdb publication page

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Validation of Susceptibility Loci for Vitiligo Identified by GWAS in the Chinese Han Population.

Frontiers In Genetics

Cheng, Lu L; Liang, Bo B; Tang, Xian-Fa XF; Cai, Xin-Ying XY; Cheng, Hui H; Zheng, Xiao-Dong XD; Zheng, Jie J; Wang, Meng-Wei MW; Zhu, Jun J; Zhou, Fu-Sheng FS; Li, Pan P; Xiao, Feng-Li FL

Publication Date: 2020

Variant appearance in text: rs3747517

PubMed Link: 33343616

Variant Present in the following documents:

• Main text
• fgene-11-542275.pdf

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: IFIH1: H843R

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: IFIH1: 2528A>G; His843Arg

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Susceptibility of the Host in Virus-Induced Diabetes.

Microorganisms

Mine, Keiichiro K; Yoshikai, Yasunobu Y; Takahashi, Hirokazu H; Mori, Hitoe H; Anzai, Keizo K; Nagafuchi, Seiho S

Publication Date: 2020-07-27

Variant appearance in text: rs3747517

PubMed Link: 32727064

Variant Present in the following documents:

• Main text
• microorganisms-08-01133.pdf

View BVdb publication page

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Innate Viral Sensor MDA5 and Coxsackievirus Interplay in Type 1 Diabetes Development.

Microorganisms

Blum, Samuel I SI; Tse, Hubert M HM

Publication Date: 2020-07-03

Variant appearance in text: rs3747517

PubMed Link: 32635205

Variant Present in the following documents:

• Main text
• microorganisms-08-00993.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: IFIH1: H843R; rs3747517

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs3747517

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: IFIH1: H843R

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM6_ESM.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: IFIH1: 2528A>G; H843R; rs3747517

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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Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis.

Rheumatology International

Condreay, Lynn D LD; Parham, Laura R LR; Qu, Xiaoyan A XA; Steinfeld, Jonathan J; Wechsler, Michael E ME; Raby, Benjamin A BA; Yancey, Steven W SW; Ghosh, Soumitra S

Publication Date: 2020-08

Variant appearance in text: rs3747517

PubMed Link: 32009195

Variant Present in the following documents:

• 296_2020_4523_MOESM1_ESM.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: IFIH1: H843R

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, 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: IFIH1: 2528A>G; His843Arg

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 11
• Supplementary_Data2.xlsx, sheet 6

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Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Frontiers In Immunology

Keskitalo, Salla S; Haapaniemi, Emma E; Einarsdottir, Elisabet E; Rajamäki, Kristiina K; Heikkilä, Hannele H; Ilander, Mette M; Pöyhönen, Minna M; Morgunova, Ekaterina E; Hokynar, Kati K; Lagström, Sonja S; Kivirikko, Sirpa S; Mustjoki, Satu S; Eklund, Kari K; Saarela, Janna J; Kere, Juha J; Seppänen, Mikko R J MRJ; Ranki, Annamari A; Hannula-Jouppi, Katariina K; Varjosalo, Markku M

Publication Date: 2019

Variant appearance in text: IFIH1: H843R; rs3747517

PubMed Link: 31866997

Variant Present in the following documents:

• Main text
• fimmu-10-02770.pdf

View BVdb publication page

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