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: 3178T>C; Cys1060Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.

Blood Advances

Butera, Diego D; Wang, Haoqing Jerry HJ; Woon, Heng-Giap HG; Zhao, Yunduo Charles YC; Ju, Lining Arnold Arnold LAA; Hogg, Philip P

Publication Date: 2022-10-14

Variant appearance in text: VWF: C1060R

PubMed Link: 36240294

Variant Present in the following documents:

• Main text
• main.pdf
• BLOODA_ADV-2022-008650-mmc1.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: C1060R

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood Advances

Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D

Publication Date: 2022-05-10

Variant appearance in text: VWF: Cys1060Arg

PubMed Link: 35020809

Variant Present in the following documents:

• Main text
• advancesADV2021005928.pdf

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Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.

Blood Advances

Borogovac, Azra A; Reese, Jessica A JA; Gupta, Samiksha S; George, James N JN

Publication Date: 2022-02-08

Variant appearance in text: VWF: 3178T>C

PubMed Link: 34807988

Variant Present in the following documents:

• advancesADV2021005760-suppl1.pdf

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Von Willebrand Factor Facilitates Intravascular Dissemination of Microsporidia Encephalitozoon hellem.

Frontiers In Cellular And Infection Microbiology

Bao, Jialing J; Mo, Biying B; An, Guozhen G; Luo, Jian J; Poncz, Mortimer M; Pan, Guoqing G; Li, Tian T; Zhou, Zeyang Z

Publication Date: 2021

Variant appearance in text: VWF: C1060R

PubMed Link: 34095003

Variant Present in the following documents:

• fcimb-11-694957.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: VWF: 3178T>C; Cys1060Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: C1060R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

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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: C1060R

PubMed Link: 24385719

Variant Present in the following documents:

• Main text
• TJH-29-313.pdf

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Cleavage of von Willebrand factor by granzyme M destroys its factor VIII binding capacity.

Plos One

Hollestelle, Martine J MJ; Lai, Ka Wai KW; van Deuren, Marcel M; Lenting, Peter J PJ; de Groot, Philip G PG; Sprong, Tom T; Bovenschen, Niels N

Publication Date: 2011

Variant appearance in text: VWF: C1060R

PubMed Link: 21909423

Variant Present in the following documents:

• Main text
• pone.0024216.pdf

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Functional architecture of Weibel-Palade bodies.

Blood

Valentijn, Karine M KM; Sadler, J Evan JE; Valentijn, Jack A JA; Voorberg, Jan J; Eikenboom, Jeroen J

Publication Date: 2011-05-12

Variant appearance in text: VWF: Cys1060Arg

PubMed Link: 21266719

Variant Present in the following documents:

• Main text

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Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.

Haematologica

Hampshire, Daniel J DJ; Burghel, George J GJ; Goudemand, Jenny J; Bouvet, Laura C S LC; Eikenboom, Jeroen C J JC; Schneppenheim, Reinhard R; Budde, Ulrich U; Peake, Ian R IR; Goodeve, Anne C AC; ,

Publication Date: 2010-12

Variant appearance in text: VWF: Cys1060Arg

PubMed Link: 20851871

Variant Present in the following documents:

• Main text

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von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.

Journal Of Thrombosis And Haemostasis : Jth

Hickson, N N; Hampshire, D D; Winship, P P; Goudemand, J J; Schneppenheim, R R; Budde, U U; Castaman, G G; Rodeghiero, F F; Federici, A B AB; James, P P; Peake, I I; Eikenboom, J J; Goodeve, A A; ,

Publication Date: 2010-09

Variant appearance in text: VWF: C1060R

PubMed Link: 20492463

Variant Present in the following documents:

• Main text

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