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: 4820T>A; Val1607Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: VWF: V1607D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One

Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA

Publication Date: 2017

Variant appearance in text: VWF: V1607D

PubMed Link: 29186156

Variant Present in the following documents:

• Main text
• pone.0188405.pdf

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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: V1607D

PubMed Link: 26206375

Variant Present in the following documents:

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

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Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.

Plos One

Dong, Jing J; Zhao, Xiaojuan X; Shi, Sensen S; Ma, Zhenni Z; Liu, Meng M; Wu, Qingyu Q; Ruan, Changgeng C; Dong, Ningzheng N

Publication Date: 2012

Variant appearance in text: VWF: V1607D

PubMed Link: 22479377

Variant Present in the following documents:

• Main text
• pone.0033263.pdf

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Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood

Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL

Publication Date: 2012-05-10

Variant appearance in text: VWF: V1607D

PubMed Link: 22431572

Variant Present in the following documents:

• Main text

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Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Qing Q; Zhou, Yan-Feng YF; Zhang, Cheng-Zhong CZ; Zhang, Xiaohui X; Lu, Chafen C; Springer, Timothy A TA

Publication Date: 2009-06-09

Variant appearance in text: VWF: V1607D

PubMed Link: 19470641

Variant Present in the following documents:

• Main text

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