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: VWF: N1231T

PubMed Link: 37012232

Variant Present in the following documents:

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

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: VWF: 3692A>C; N1231T

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Analysis of von Willebrand Disease in the "Heart of Europe".

Th Open : Companion Journal To Thrombosis And Haemostasis

Vangenechten, Inge I; Smejkal, Petr P; Zavrelova, Jiri J; Zapletal, Ondrej O; Wild, Alexander A; Michiels, Jan Jacques JJ; Berneman, Zwi Z; Blatny, Jan J; Batorova, Angelika A; Prigancova, Tatiana T; Penka, Miroslav M; Gadisseur, Alain A

Publication Date: 2022-10

Variant appearance in text: VWF: 3692A>C; Asn1231Thr

PubMed Link: 36299619

Variant Present in the following documents:

• 10-1055-s-0042-1757635-s22060029.pdf

View BVdb publication page

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Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances

Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2022-07-12

Variant appearance in text: VWF: N1231T

PubMed Link: 35452508

Variant Present in the following documents:

• advancesADV2022007216-suppl1.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: N1231T; rs61749368

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: 3692A>C; Asn1231Thr

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Research And Practice In Thrombosis And Haemostasis

Vangenechten, Inge I; Gadisseur, Alain A

Publication Date: 2020-08

Variant appearance in text: VWF: Asn1231Thr

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: VWF: 3692A>C; Asn1231Thr; rs61749368

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Journal Of Thrombosis And Haemostasis : Jth

Szederjesi, Attila A; Baronciani, Luciano L; Budde, Ulrich U; Castaman, Giancarlo G; Colpani, Paola P; Lawrie, Andrew S AS; Liu, Yuan Y; Montgomery, Robert R; Peyvandi, Flora F; Schneppenheim, Reinhard R; Patzke, Jürgen J; Bodó, Imre I

Publication Date: 2020-10

Variant appearance in text: VWF: N1231T

PubMed Link: 32573891

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis

Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C

Publication Date: 2018-01

Variant appearance in text: VWF: 3692A>C; N1231T; rs61749368

PubMed Link: 31249928

Variant Present in the following documents:

• Main text
• 10-1055-s-0037-1618571.pdf

View BVdb publication page

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Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Blood

Lavin, Michelle M; Aguila, Sonia S; Schneppenheim, Sonja S; Dalton, Niall N; Jones, Kenneth L KL; O'Sullivan, Jamie M JM; O'Connell, Niamh M NM; Ryan, Kevin K; White, Barry B; Byrne, Mary M; Rafferty, Marie M; Doyle, Mairead M MM; Nolan, Margaret M; Preston, Roger J S RJS; Budde, Ulrich U; James, Paula P; Di Paola, Jorge J; O'Donnell, James S JS

Publication Date: 2017-11-23

Variant appearance in text: VWF: Asn1231Thr; rs61749368

PubMed Link: 28916584

Variant Present in the following documents:

• Main text

View BVdb publication page

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In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Weiss, Karin K; Kruszka, Paul P; Guillen Sacoto, Maria J MJ; Addissie, Yonit A YA; Hadley, Donald W DW; Hadsall, Casey K CK; Stokes, Bethany B; Hu, Ping P; Roessler, Erich E; Solomon, Beth B; Wiggs, Edythe E; Thurm, Audrey A; Hufnagel, Robert B RB; Zein, Wadih M WM; Hahn, Jin S JS; Stashinko, Elaine E; Levey, Eric E; Baldwin, Debbie D; Clegg, Nancy J NJ; Delgado, Mauricio R MR; Muenke, Maximilian M

Publication Date: 2018-01

Variant appearance in text: VWF: 3692A>C; N1231T

PubMed Link: 28640243

Variant Present in the following documents:

• gim201768x1.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: VWF: 3692A>C; N1231T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: VWF: N1231T; rs61749368

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 7

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: N1231T

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One

Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: VWF: 3692A>C; N1231T

PubMed Link: 24675615

Variant Present in the following documents:

• Main text
• pone.0092575.pdf

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: N1231T

PubMed Link: 22197721

Variant Present in the following documents:

• Main text

View BVdb publication page

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