Publications:

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Management of venous thromboembolism in patients with lung cancer: a state-of-the-art review.

Bmj Open Respiratory Research

Xiong, Wei W; Guo, Xuejun X; Du, He H; Xu, Mei M; Zhao, Yunfeng Y

Publication Date: 2023-04

Variant appearance in text: rs4524

PubMed Link: 37068846

Variant Present in the following documents:

• Main text
• bmjresp-2022-001493.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: F5: K858R

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

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: F5: K858R; rs4524

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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Prediction of venous thromboembolism incidence in the general adult population using two published genetic risk scores.

Plos One

Folsom, Aaron R AR; Tang, Weihong W; Hong, Ching-Ping CP; Rosamond, Wayne D WD; Lane, John A JA; Cushman, Mary M; Pankratz, Nathan N

Publication Date: 2023

Variant appearance in text: rs4524

PubMed Link: 36716319

Variant Present in the following documents:

• Main text
• pone.0280657.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs4524

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.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: rs4524

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: F5: K858R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_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: F5: K858R; rs4524

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

View BVdb publication page

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A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.

Frontiers In Medicine

Chang, Yueh-Shih YS; Lan, Yi-Cheng YC; Chen, Ya-Jyun YJ; Huang, Jen-Seng JS; Yang, Chia-Ning CN; Huang, Chi-Ying F CF; Yeh, Kun-Yun KY

Publication Date: 2022

Variant appearance in text: F5: Lys858Arg

PubMed Link: 35755047

Variant Present in the following documents:

• Main text
• fmed-09-870269.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: F5: K858R

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: F5: K858R

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: F5: K858R; rs4524

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 9

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: F5: K858R; rs4524

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 11

View BVdb publication page

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Incorporating genetic and clinical data into the prediction of thromboembolism risk in patients with lymphoma.

Cancer Medicine

Bastos-Oreiro, Mariana M; Ortiz, Javier J; Pradillo, Virginia V; Salas, Eduardo E; Marínez-Laperche, Carolina C; Muñoz, Andrés A; Buño, Ismael I; Diéz-Martin, José Luis JL; Soria, Jose Manuel JM; Pascual Izquierdo, Cristina C

Publication Date: 2021-11

Variant appearance in text: rs4524

PubMed Link: 34598309

Variant Present in the following documents:

• Main text
• CAM4-10-7585.pdf

View BVdb publication page

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Incorporating genetic and clinical data into the prediction of thromboembolism risk in patients with lymphoma.

Cancer Medicine

Bastos-Oreiro, Mariana M; Ortiz, Javier J; Pradillo, Virginia V; Salas, Eduardo E; Marínez-Laperche, Carolina C; Muñoz, Andrés A; Buño, Ismael I; Diéz-Martin, José Luis JL; Soria, Jose Manuel JM; Pascual Izquierdo, Cristina C

Publication Date: 2021-11

Variant appearance in text: rs4524

PubMed Link: 34598309

Variant Present in the following documents:

• Main text
• CAM4-10-7585.pdf

View BVdb publication page

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Evaluation of the Khorana, PROTECHT, and 5-SNP scores for prediction of venous thromboembolism in patients with cancer.

Journal Of Thrombosis And Haemostasis : Jth

Guman, Noori A M NAM; van Geffen, Roos J RJ; Mulder, Frits I FI; van Haaps, Thijs F TF; Hovsepjan, Vahram V; Labots, Mariette M; Cirkel, Geert A GA; Y F L de Vos, Filip F; Ten Tije, Albert J AJ; Beerepoot, Laurens V LV; Tjan-Heijnen, Vivianne C G VCG; van Laarhoven, Hanneke W M HWM; Hamberg, Paul P; Vulink, Annelie J E AJE; Los, Maartje M; Zwinderman, Aeilko H AH; Ferwerda, Bart B; Lolkema, Martijn P J K MPJK; Steeghs, Neeltje N; Büller, Harry R HR; Kamphuisen, Pieter W PW; van Es, Nick N

Publication Date: 2021-12

Variant appearance in text: rs4524

PubMed Link: 34409743

Variant Present in the following documents:

• Main text
• JTH-19-2974.pdf

View BVdb publication page

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Cancer-Associated Thrombosis: A Clinical Scoping Review of the Risk Assessment Models Across Solid Tumours and Haematological Malignancies.

International Journal Of General Medicine

Mosaad, Manar M; Elnaem, Mohamed Hassan MH; Cheema, Ejaz E; Ibrahim, Ismail I; Ab Rahman, Jamalludin J; Kori, Ahlam Naila AN; Hin, How Soon HS

Publication Date: 2021

Variant appearance in text: rs4524

PubMed Link: 34335052

Variant Present in the following documents:

• Main text
• ijgm-14-3881.pdf

View BVdb publication page

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Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.

Genes

Gemmati, Donato D; Longo, Giovanna G; Franchini, Eugenia E; Araujo Silva, Juliana J; Gallo, Ines I; Lunghi, Barbara B; Moratelli, Stefano S; Maestri, Iva I; Serino, Maria Luisa ML; Tisato, Veronica V

Publication Date: 2021-06-18

Variant appearance in text: rs4524

PubMed Link: 34207366

Variant Present in the following documents:

• Main text
• genes-12-00934.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: F5: 2573A>G; K858R; rs4524

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)

Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z

Publication Date: 2021-03-05

Variant appearance in text: F5: Lys858Arg; rs4524

PubMed Link: 33807613

Variant Present in the following documents:

• Main text
• life-11-00202-s001.pdf
• life-11-00202.pdf

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: F5: 2573A>G; K858R; rs4524

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

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: rs4524

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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Prevalence of the Factor V Leiden Mutation Arg534Gln in Western Region of Saudi Arabia: Functional Alteration and Association Study With Different Populations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Ghita, Ibrahim S IS; Albagenny, Amani A AA; Halawani, Saeed H SH; Alkazmi, Mohammad M MM; Elbjeirami, Wafa M WM; Alquthami, Khalid K; Alkhuzae, Mohammad M MM; Ragab, Fadel M FM; Al-Allaf, Faisal A FA

Publication Date: 2021

Variant appearance in text: rs4524

PubMed Link: 33448877

Variant Present in the following documents:

• Main text
• 10.1177_1076029620978532.pdf

View BVdb publication page

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Novel susceptibility loci identified in a genome-wide association study of type 2 diabetes complications in population of Latvia.

Bmc Medical Genomics

Ustinova, Monta M; Peculis, Raitis R; Rescenko, Raimonds R; Rovite, Vita V; Zaharenko, Linda L; Elbere, Ilze I; Silamikele, Laila L; Konrade, Ilze I; Sokolovska, Jelizaveta J; Pirags, Valdis V; Klovins, Janis J

Publication Date: 2021-01-11

Variant appearance in text: rs4524

PubMed Link: 33430853

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic association study of fatal pulmonary embolism.

International Journal Of Legal Medicine

Meißner, Lisa L; Schürmann, Peter P; Dörk, Thilo T; Hagemeier, Lars L; Klintschar, Michael M

Publication Date: 2021-01

Variant appearance in text: rs4524

PubMed Link: 33128086

Variant Present in the following documents:

• Main text

View BVdb publication page

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Management of Cancer-Associated Thrombosis: An Evolving Area.

Cancers

Frere, Corinne C; Connors, Jean M JM; Farge, Dominique D

Publication Date: 2020-10-16

Variant appearance in text: rs4524

PubMed Link: 33081109

Variant Present in the following documents:

• Main text
• cancers-12-02999.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: F5: K858R; rs4524

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: F5: K858R

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Dataset of GWAS-identified variants underlying venous thromboembolism susceptibility and linkage to cancer aggressiveness.

Data In Brief

Tavares, Valéria V; Pinto, Ricardo R; Assis, Joana J; Pereira, Deolinda D; Medeiros, Rui R

Publication Date: 2020-06

Variant appearance in text: rs4524

PubMed Link: 32258274

Variant Present in the following documents:

• Main text

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: F5: 2573A>G; Lys858Arg; rs4524

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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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: F5: K858R; rs4524

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Fibrinogen gamma gene rs2066865 and risk of cancer-related venous thromboembolism.

Haematologica

Paulsen, Benedikte B; Skille, Hanne H; Smith, Erin N EN; Hveem, Kristian K; Gabrielsen, Maiken E ME; Brækkan, Sigrid K SK; Rosendaal, Frits R FR; Frazer, Kelly A KA; Gran, Olga V OV; Hansen, John-Bjarne JB

Publication Date: 2020-07

Variant appearance in text: rs4524

PubMed Link: 31582554

Variant Present in the following documents:

• Main text
• 1051963.pdf

View BVdb publication page

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Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

Blood

Lindström, Sara S; Wang, Lu L; Smith, Erin N EN; Gordon, William W; van Hylckama Vlieg, Astrid A; de Andrade, Mariza M; Brody, Jennifer A JA; Pattee, Jack W JW; Haessler, Jeffrey J; Brumpton, Ben M BM; Chasman, Daniel I DI; Suchon, Pierre P; Chen, Ming-Huei MH; Turman, Constance C; Germain, Marine M; Wiggins, Kerri L KL; MacDonald, James J; Braekkan, Sigrid K SK; Armasu, Sebastian M SM; Pankratz, Nathan N; Jackson, Rebecca D RD; Nielsen, Jonas B JB; Giulianini, Franco F; Puurunen, Marja K MK; Ibrahim, Manal M; Heckbert, Susan R SR; Damrauer, Scott M SM; Natarajan, Pradeep P; Klarin, Derek D; , ; de Vries, Paul S PS; Sabater-Lleal, Maria M; Huffman, Jennifer E JE; , ; Bammler, Theo K TK; Frazer, Kelly A KA; McCauley, Bryan M BM; Taylor, Kent K; Pankow, James S JS; Reiner, Alexander P AP; Gabrielsen, Maiken E ME; Deleuze, Jean-François JF; O'Donnell, Chris J CJ; Kim, Jihye J; McKnight, Barbara B; Kraft, Peter P; Hansen, John-Bjarne JB; Rosendaal, Frits R FR; Heit, John A JA; Psaty, Bruce M BM; Tang, Weihong W; Kooperberg, Charles C; Hveem, Kristian K; Ridker, Paul M PM; Morange, Pierre-Emmanuel PE; Johnson, Andrew D AD; Kabrhel, Christopher C; Trégouët, David-Alexandre DA; Smith, Nicholas L NL

Publication Date: 2019-11-07

Variant appearance in text: rs4524

PubMed Link: 31420334

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common Risk Factors Add to Inherited Thrombophilia to Predict Venous Thromboembolism Risk in Families.

Th Open : Companion Journal To Thrombosis And Haemostasis

Suchon, Pierre P; Resseguier, Noemie N; Ibrahim, Manal M; Robin, Alexia A; Venton, Geoffroy G; Barthet, Marie-Christine MC; Brunet, Dominique D; Saut, Noemie N; Alessi, Marie-Christine MC; Trégouët, David A DA; Morange, Pierre E PE

Publication Date: 2019-01

Variant appearance in text: rs4524

PubMed Link: 31249979

Variant Present in the following documents:

• Main text
• 10-1055-s-0039-1677807.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: F5: 2573A>G; Lys858Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

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: F5: K858R; rs4524

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation.

Scientific Reports

Ibrahim-Kosta, M M; Suchon, P P; Couturaud, F F; Smadja, D D; Olaso, R R; Germain, M M; Saut, N N; Goumidi, L L; Derbois, C C; Thibord, F F; Debette, S S; Amouyel, P P; Deleuze, J F JF; van Doorn, P P; Castoldi, E E; Patin, E E; Alessi, M C MC; Trégouët, D A DA; Morange, P E PE

Publication Date: 2019-03-06

Variant appearance in text: F5: K858R; rs4524

PubMed Link: 30842582

Variant Present in the following documents:

• Main text
• 41598_2019_Article_40172.pdf

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: rs4524

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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: F5: K858R; rs4524

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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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs4524

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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: F5: 2573A>G; Lys858Arg; rs4524

PubMed Link: 30319441

Variant Present in the following documents:

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

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4524

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.

Journal Of Thrombosis And Haemostasis : Jth

de Haan, H G HG; van Hylckama Vlieg, A A; Lotta, L A LA; Gorski, M M MM; Bucciarelli, P P; Martinelli, I I; Baglin, T P TP; Peyvandi, F F; Rosendaal, F R FR; ,

Publication Date: 2018-12

Variant appearance in text: rs4524

PubMed Link: 30168256

Variant Present in the following documents:

• Main text
• nihms-1021906.pdf
• NIHMS1021906-supplement-1.pdf

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: F5: 2573A>G; K858R; rs4524

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

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Multivariable clinical-genetic risk model for predicting venous thromboembolic events in patients with cancer.

British Journal Of Cancer

Muñoz Martín, Andrés J AJ; Ortega, Israel I; Font, Carme C; Pachón, Vanesa V; Castellón, Victoria V; Martínez-Marín, Virginia V; Salgado, Mercedes M; Martínez, Eva E; Calzas, Julia J; Rupérez, Ana A; Souto, Juan C JC; Martín, Miguel M; Salas, Eduardo E; Soria, Jose M JM

Publication Date: 2018-04

Variant appearance in text: rs4524

PubMed Link: 29588512

Variant Present in the following documents:

• 41416_2018_Article_27.pdf

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