Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: VWF: 2435del; Pro812fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 2435delC; Pro812ArgfsX31

PubMed Link: 36299619

Variant Present in the following documents:

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

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Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances

Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA

Publication Date: 2022-06-28

Variant appearance in text: VWF: P812Rfs*31

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: VWF: 2435delC

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Blood Advances

Baronciani, Luciano L; Peake, Ian I; Schneppenheim, Reinhard R; Goodeve, Anne A; Ahmadinejad, Minoo M; Badiee, Zahra Z; Baghaipour, Mohammad-Reza MR; Benitez, Olga O; Bodó, Imre I; Budde, Ulrich U; Cairo, Andrea A; Castaman, Giancarlo G; Eshghi, Peyman P; Goudemand, Jenny J; Hassenpflug, Wolf W; Hoorfar, Hamid H; Karimi, Mehran M; Keikhaei, Bijan B; Lassila, Riitta R; Leebeek, Frank W G FWG; Lopez Fernandez, Maria Fernanda MF; Mannucci, Pier Mannuccio PM; Marino, Renato R; Nikšić, Nikolas N; Oyen, Florian F; Santoro, Cristina C; Tiede, Andreas A; Toogeh, Gholamreza G; Tosetto, Alberto A; Trossaert, Marc M; Zetterberg, Eva M K EMK; Eikenboom, Jeroen J; Federici, Augusto B AB; Peyvandi, Flora F

Publication Date: 2021-08-10

Variant appearance in text: VWF: 2435delC

PubMed Link: 34351388

Variant Present in the following documents:

• Main text

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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: Pro812ArgfsX31

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: VWF: P812Rfs*31

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: VWF: 2435delC; Pro812fs

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Efficacy of emicizumab in a pediatric patient with type 3 von Willebrand disease and alloantibodies.

Blood Advances

Weyand, Angela C AC; Flood, Veronica H VH; Shavit, Jordan A JA; Pipe, Steven W SW

Publication Date: 2019-09-24

Variant appearance in text: VWF: 2435del

PubMed Link: 31540901

Variant Present in the following documents:

• Main text

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Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

British Journal Of Haematology

Leinøe, Eva E; Zetterberg, Eva E; Kinalis, Savvas S; Østrup, Olga O; Kampmann, Peter P; Norström, Eva E; Andersson, Nadine N; Klintman, Jenny J; Qvortrup, Klaus K; Nielsen, Finn Cilius FC; Rossing, Maria M

Publication Date: 2017-10

Variant appearance in text: VWF: 2435delC; Pro812Argfs*31

PubMed Link: 28748566

Variant Present in the following documents:

• Main text
• BJH-179-308.pdf

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Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Plos One

Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P

Publication Date: 2016

Variant appearance in text: VWF: P812Rfs

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.pdf

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Crucial role for the VWF A1 domain in binding to type IV collagen.

Blood

Flood, Veronica H VH; Schlauderaff, Abraham C AC; Haberichter, Sandra L SL; Slobodianuk, Tricia L TL; Jacobi, Paula M PM; Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Gill, Joan Cox JC; Hoffmann, Raymond G RG; Montgomery, Robert R RR; ,

Publication Date: 2015-04-02

Variant appearance in text: VWF: P812Rfs*31

PubMed Link: 25662333

Variant Present in the following documents:

• Main text

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The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Berber, Ergül E

Publication Date: 2012-12

Variant appearance in text: VWF: 2435delC

PubMed Link: 24385719

Variant Present in the following documents:

• Main text
• TJH-29-313.pdf

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Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Blood

Mannucci, Pier Mannuccio PM; Kempton, Christine C; Millar, Carolyn C; Romond, Edward E; Shapiro, Amy A; Birschmann, Ingvild I; Ragni, Margaret V MV; Gill, Joan Cox JC; Yee, Thynn Thynn TT; Klamroth, Robert R; Wong, Wing-Yen WY; Chapman, Miranda M; Engl, Werner W; Turecek, Peter L PL; Suiter, Tobias M TM; Ewenstein, Bruce M BM; ,

Publication Date: 2013-08-01

Variant appearance in text: VWF: 2435delC; P812RfsX31

PubMed Link: 23777763

Variant Present in the following documents:

• Main text

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The molecular characterization of von Willebrand disease: good in parts.

British Journal Of Haematology

James, P D PD; Lillicrap, D D

Publication Date: 2013-04

Variant appearance in text: VWF: 2435delC

PubMed Link: 23406206

Variant Present in the following documents:

• Main text

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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: 2435delC

PubMed Link: 23311757

Variant Present in the following documents:

• Main text

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A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Haematologica

Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G

Publication Date: 2013-01

Variant appearance in text: VWF: 2435delC

PubMed Link: 22875612

Variant Present in the following documents:

• Main text

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Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

Journal Of Thrombosis And Haemostasis : Jth

Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Bellissimo, D B DB; Friedman, K D KD; Haberichter, S L SL; Lentz, S R SR; Montgomery, R R RR

Publication Date: 2012-07

Variant appearance in text: VWF: 2435delC

PubMed Link: 22507569

Variant Present in the following documents:

• Main text

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von Willebrand disease.

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

James, Paula D PD; Goodeve, Anne C AC

Publication Date: 2011-05

Variant appearance in text: VWF: 2435delC; Pro812ArgfsX31

PubMed Link: 21289515

Variant Present in the following documents:

• Main text

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