Publications:

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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: rs2229446

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Research And Practice In Thrombosis And Haemostasis

Dubois, Marie-Daniéla MD; Peyron, Ivan I; Pierre-Louis, Olivier-Nicolas ON; Pierre-Louis, Serge S; Rabout, Johalène J; Boisseau, Pierre P; de Jong, Annika A; Susen, Sophie S; Goudemand, Jenny J; Neviere, Rémi R; Fuseau, Pascal P; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Casari, Caterina C

Publication Date: 2022-05

Variant appearance in text: VWF: 6554G>A; Arg2185Gln

PubMed Link: 35734101

Variant Present in the following documents:

• Main text
• RTH2-6-e12737.pdf

View BVdb publication page

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Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Journal Of Thrombosis And Haemostasis : Jth

Maas, Dominique P M S M DPMSM; Atiq, Ferdows F; Blijlevens, Nicole M A NMA; Brons, Paul P T PPT; Krouwel, Sandy S; Laros-van Gorkom, Britta A P BAP; Leebeek, Frank W G FWG; Nieuwenhuizen, Laurens L; Schoormans, Selene C M SCM; Simons, Annet A; Meijer, Daniëlle D; van Heerde, Waander L WL; Schols, Saskia E M SEM

Publication Date: 2022-02

Variant appearance in text: VWF: Arg2185Gln

PubMed Link: 34758185

Variant Present in the following documents:

• Main text
• JTH-20-316.pdf

View BVdb publication page

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Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One

Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F

Publication Date: 2021

Variant appearance in text: VWF: R2185Q; rs2229446

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s002.pdf

View BVdb publication page

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth

Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K

Publication Date: 2021-10

Variant appearance in text: VWF: 6554G>A; R2185Q

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

Th Open : Companion Journal To Thrombosis And Haemostasis

Dubois, Marie Daniela MD; Pierre-Louis, Serge S; Rabout, Johalène J; Denis, Cécile V CV; Christophe, Olivier O; Susen, Sophie S; Goudemand, Jenny J; Boisseau, Pierre P; Neviere, Rémi R; Pierre-Louis, Olivier O

Publication Date: 2020-10

Variant appearance in text: VWF: Arg2185Gln

PubMed Link: 33134807

Variant Present in the following documents:

• Main text
• 10-1055-s-0040-1718703.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: VWF: R2185Q

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.

Journal Of Thrombosis And Haemostasis : Jth

Raffield, Laura M LM; Lu, Ake T AT; Szeto, Mindy D MD; Little, Amarise A; Grinde, Kelsey E KE; Shaw, Jessica J; Auer, Paul L PL; Cushman, Mary M; Horvath, Steve S; Irvin, Marguerite R MR; Lange, Ethan M EM; Lange, Leslie A LA; Nickerson, Deborah A DA; Thornton, Timothy A TA; Wilson, James G JG; Wheeler, Marsha M MM; , ; Zakai, Neil A NA; Reiner, Alex P AP

Publication Date: 2020-06

Variant appearance in text: VWF: Arg2185Gln; rs2229446

PubMed Link: 31985870

Variant Present in the following documents:

• Main text

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: VWF: 6554G>A; Arg2185Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: VWF: 6554G>A; rs2229446

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs2229446

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: VWF: R2185Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: VWF: R2185Q; rs2229446

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

American Journal Of Hematology

Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR

Publication Date: 2015-06

Variant appearance in text: VWF: Arg2185Gln; rs2229446

PubMed Link: 25779970

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.

Human Molecular Genetics

Weng, Lu-Chen LC; Cushman, Mary M; Pankow, James S JS; Basu, Saonli S; Boerwinkle, Eric E; Folsom, Aaron R AR; Tang, Weihong W

Publication Date: 2015-04-15

Variant appearance in text: VWF: Arg2185Gln; rs2229446

PubMed Link: 25552651

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: VWF: R2185Q

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.

Blood

Johnsen, Jill M JM; Auer, Paul L PL; Morrison, Alanna C AC; Jiao, Shuo S; Wei, Peng P; Haessler, Jeffrey J; Fox, Keolu K; McGee, Sean R SR; Smith, Joshua D JD; Carlson, Christopher S CS; Smith, Nicholas N; Boerwinkle, Eric E; Kooperberg, Charles C; Nickerson, Deborah A DA; Rich, Stephen S SS; Green, David D; Peters, Ulrike U; Cushman, Mary M; Reiner, Alex P AP; ,

Publication Date: 2013-07-25

Variant appearance in text: VWF: Arg2185Gln; rs2229446

PubMed Link: 23690449

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth

Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,

Publication Date: 2013-03

Variant appearance in text: VWF: 6554G>A; Arg2185Gln

PubMed Link: 23311757

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Journal Of Thrombosis And Haemostasis : Jth

Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL

Publication Date: 2013-02

Variant appearance in text: VWF: R2185Q

PubMed Link: 23216583

Variant Present in the following documents:

• Main text

View BVdb publication page

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VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood

Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR

Publication Date: 2012-03-01

Variant appearance in text: VWF: R2185Q

PubMed Link: 22197721

Variant Present in the following documents:

• Main text

View BVdb publication page

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A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains.

Plos Genetics

Avery, Christy L CL; He, Qianchuan Q; North, Kari E KE; Ambite, Jose L JL; Boerwinkle, Eric E; Fornage, Myriam M; Hindorff, Lucia A LA; Kooperberg, Charles C; Meigs, James B JB; Pankow, James S JS; Pendergrass, Sarah A SA; Psaty, Bruce M BM; Ritchie, Marylyn D MD; Rotter, Jerome I JI; Taylor, Kent D KD; Wilkens, Lynne R LR; Heiss, Gerardo G; Lin, Dan Yu DY

Publication Date: 2011-10

Variant appearance in text: rs2229446

PubMed Link: 22022282

Variant Present in the following documents:

• Main text
• pgen.1002322.pdf

View BVdb publication page

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