Publications:

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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: 6859C>T; Arg2287Trp

PubMed Link: 35734101

Variant Present in the following documents:

• Main text
• RTH2-6-e12737.pdf

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: VWF: 6859C>T; R2287W; rs61750625

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: VWF: 6859C>T; R2287W; rs61750625

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

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: R2287W; rs61750625

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s002.pdf

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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: 6859C>T; rs61750625

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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The impact of rare and low-frequency genetic variants in common disease.

Genome Biology

Bomba, Lorenzo L; Walter, Klaudia K; Soranzo, Nicole N

Publication Date: 2017-04-27

Variant appearance in text: rs61750625

PubMed Link: 28449691

Variant Present in the following documents:

• Main text
• 13059_2017_Article_1212.pdf

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: VWF: R2287W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Group association test using a hidden Markov model.

Biostatistics (Oxford, England)

Cheng, Yichen Y; Dai, James Y JY; Kooperberg, Charles C

Publication Date: 2016-04

Variant appearance in text: VWF: Arg2287Trp; rs61750625

PubMed Link: 26420797

Variant Present in the following documents:

• Main text

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: rs61750625

PubMed Link: 25779970

Variant Present in the following documents:

• Main text

View BVdb publication page

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A variational Bayes discrete mixture test for rare variant association.

Genetic Epidemiology

Logsdon, Benjamin A BA; Dai, James Y JY; Auer, Paul L PL; Johnsen, Jill M JM; Ganesh, Santhi K SK; Smith, Nicholas L NL; Wilson, James G JG; Tracy, Russell P RP; Lange, Leslie A LA; Jiao, Shuo S; Rich, Stephen S SS; Lettre, Guillaume G; Carlson, Christopher S CS; Jackson, Rebecca D RD; O'Donnell, Christopher J CJ; Wurfel, Mark M MM; Nickerson, Deborah A DA; Tang, Hua H; Reiner, Alexander P AP; Kooperberg, Charles C; ,

Publication Date: 2014-01

Variant appearance in text: VWF: Arg2287Trp; rs61750625

PubMed Link: 24482836

Variant Present in the following documents:

• Main text

View BVdb publication page

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p.P2063S: a neutral VWF variant masquerading as a mutation.

Annals Of Hematology

Hampshire, Daniel J DJ; Goodeve, Anne C AC

Publication Date: 2014-03

Variant appearance in text: VWF: 6859C>T; R2287W

PubMed Link: 23775583

Variant Present in the following documents:

• Main text

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: Arg2287Trp; rs61750625

PubMed Link: 23690449

Variant Present in the following documents:

• Main text

View BVdb publication page

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Collagen binding provides a sensitive screen for variant von Willebrand disease.

Clinical Chemistry

Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Christopherson, Pamela A PA; Jacobi, Paula M PM; Hoffmann, Raymond G RG; Montgomery, Robert R RR; Haberichter, Sandra L SL; ,

Publication Date: 2013-04

Variant appearance in text: VWF: R2287W

PubMed Link: 23340442

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: R2287W

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: R2287W

PubMed Link: 22197721

Variant Present in the following documents:

• Main text

View BVdb publication page

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