VWF c.4414G>C ;(p.D1472H)

Variant ID: 12-6128170-C-G

NM_000552.3(VWF):c.4414G>C;(p.D1472H)

This variant was identified in 67 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: VWF: D1472H; rs1800383
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.

Genes
Elek, Zsuzsanna Z; Losoncz, Eszter E; Maricza, Katalin K; Fülep, Zoltán Z; Bánlaki, Zsófia Z; Kovács-Nagy, Réka R; Keszler, Gergely G; Rónai, Zsolt Z
Publication Date: 2023-02-28

Variant appearance in text: rs1800383
PubMed Link: 36980889
Variant Present in the following documents:
  • Main text
  • genes-14-00617.pdf
View BVdb publication page



Ristocetin dependent cofactor activity in von Willebrand disease diagnosis: Limitations of relying on a single measure.

Research And Practice In Thrombosis And Haemostasis
Christopherson, Pamela A PA; Haberichter, Sandra L SL; Flood, Veronica H VH; Sicking, Ursula O UO; Abshire, Thomas C TC; Montgomery, Robert R RR; ,
Publication Date: 2022-10

Variant appearance in text: VWF: D1472H
PubMed Link: 36381287
Variant Present in the following documents:
  • Main text
  • RTH2-6-e12807.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: VWF: D1472H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: VWF: D1472H; rs1800383
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



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: 4414G>C; Asp1472His
PubMed Link: 35734101
Variant Present in the following documents:
  • Main text
  • RTH2-6-e12737.pdf
View BVdb publication page



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: D1472H
PubMed Link: 35192687
Variant Present in the following documents:
  • Main text
  • advancesADV2021005431C.pdf
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: VWF: D1472H
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.

Blood Advances
Sadler, Brooke B; Minard, Charles C; Haller, Gabe G; Gurnett, Christina A CA; O'Brien, Sarah H SH; Wheeler, Allison P AP; Jain, Shilpa S; Sharma, Mukta M; Zia, Ayesha A; Kulkarni, Roshni R; Mullins, Eric S ES; Ragni, Margaret V MV; Sidonio, Robert Francis RF; Dietrich, Jennifer E JE; Kouides, Peter P; Di Paola, Jorge J; Srivaths, Lakshmi Venkat LV
Publication Date: 2021-11-22

Variant appearance in text: VWF: D1472H
PubMed Link: 34807970
Variant Present in the following documents:
  • Main text
  • advancesADV2021005118.pdf
View BVdb publication page



Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.

Blood Advances
Sadler, Brooke B; Minard, Charles G CG; Haller, Gabe G; Gurnett, Christina A CA; O'Brien, Sarah H SH; Wheeler, Allison A; Jain, Shilpa S; Sharma, Mutka M; Zia, Ayesha A; Kulkarni, Roshni R; Mullins, Eric E; Ragni, Margaret V MV; Sidonio, Robert R; Dietrich, Jennifer E JE; Kouides, Peter A PA; Di Paola, Jorge J; Srivaths, Lakshmi L
Publication Date: 2022-01-25

Variant appearance in text: VWF: D1472H
PubMed Link: 34807970
Variant Present in the following documents:
  • Main text
  • advancesADV2021005118.pdf
View BVdb publication page



Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Journal Of Thrombosis And Haemostasis : Jth
Maas, Dominique P M S M DPMSM; Atiq, Ferdows F; Blijlevens, Nicole M A NMA; Brons, Paul P T PPT; Krouwel, Sandy S; Laros-van Gorkom, Britta A P BAP; Leebeek, Frank W G FWG; Nieuwenhuizen, Laurens L; Schoormans, Selene C M SCM; Simons, Annet A; Meijer, Daniëlle D; van Heerde, Waander L WL; Schols, Saskia E M SEM
Publication Date: 2022-02

Variant appearance in text: VWF: Asp1472His
PubMed Link: 34758185
Variant Present in the following documents:
  • Main text
  • JTH-20-316.pdf
View BVdb publication page



Commentary on "ASH ISTH NHF WFH 2021 guidelines on the diagnosis of VWD": reflections based on recent contemporary test data.

Blood Advances
Favaloro, Emmanuel J EJ
Publication Date: 2021-11-01

Variant appearance in text: VWF: D1472H
PubMed Link: 34724706
Variant Present in the following documents:
  • Main text
  • advancesADV2021005946.pdf
View BVdb publication page



Commentary on the ASH ISTH NHF WFH 2021 guidelines on the diagnosis of VWD: reflections based on recent contemporary test data.

Blood Advances
Favaloro, Emmanuel J EJ
Publication Date: 2022-01-25

Variant appearance in text: VWF: D1472H
PubMed Link: 34724706
Variant Present in the following documents:
  • Main text
  • advancesADV2021005946.pdf
View BVdb publication page



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: D1472H; rs1800383
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s001.pdf
View BVdb publication page



Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine
Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N
Publication Date: 2021-07-16

Variant appearance in text: VWF: Asp1472His; rs1800383
PubMed Link: 34272389
Variant Present in the following documents:
  • 41525_2021_228_MOESM1_ESM.pdf
View BVdb publication page



[ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Xue, F F; Yang, R C RC
Publication Date: 2021-05-14

Variant appearance in text: VWF: D1472H
PubMed Link: 34218576
Variant Present in the following documents:
  • cjh-42-05-358.pdf
View BVdb publication page



Obstacles to Early Diagnosis and Treatment of Inherited von Willebrand Disease: Current Perspectives.

Journal Of Blood Medicine
Castaman, Giancarlo G; Linari, Silvia S
Publication Date: 2021

Variant appearance in text: VWF: D1472H
PubMed Link: 33790680
Variant Present in the following documents:
  • Main text
  • jbm-12-165.pdf
View BVdb publication page



Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer
Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L
Publication Date: 2021-02-23

Variant appearance in text: VWF: 4414G>C; Asp1472His
PubMed Link: 33622313
Variant Present in the following documents:
  • 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4
  • 12943_2021_1331_MOESM3_ESM.xlsx, sheet 8
View BVdb publication page



ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.

Blood Advances
James, Paula D PD; Connell, Nathan T NT; Ameer, Barbara B; Di Paola, Jorge J; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicki V; Konkle, Barbara B; McLintock, Claire C; McRae, Simon S; R Montgomery, Robert R; O'Donnell, James S JS; Scappe, Nikole N; Sidonio, Robert R; Flood, Veronica H VH; Husainat, Nedaa N; Kalot, Mohamad A MA; Mustafa, Reem A RA
Publication Date: 2021-01-12

Variant appearance in text: VWF: D1472H
PubMed Link: 33570651
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular coevolution of coagulation factor VIII and von Willebrand factor.

Blood Advances
Zakas, Philip M PM; Coyle, Christopher W CW; Brehm, Anja A; Bayer, Marion M; Solecka-Witulska, Barbara B; Radford, Caelan E CE; Brown, Christine C; Nesbitt, Kate K; Dwyer, Courtney C; Kannicht, Christoph C; Spencer, H Trent HT; Gaucher, Eric A EA; Doering, Christopher B CB; Lillicrap, David D
Publication Date: 2021-02-09

Variant appearance in text: VWF: D1472H
PubMed Link: 33560395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thrombocytosis with acquired von Willebrand disease in an adolescent with sickle cell disease.

Clinical Case Reports
Yee, Marianne E M MEM; Batsuli, Glaivy G; Chonat, Satheesh S; Park, Sunita S
Publication Date: 2021-01

Variant appearance in text: VWF: D1472H
PubMed Link: 33489197
Variant Present in the following documents:
  • Main text
  • CCR3-9-457.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs1800383
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: VWF: D1472H
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 5
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

Th Open : Companion Journal To Thrombosis And Haemostasis
Dubois, Marie Daniela MD; Pierre-Louis, Serge S; Rabout, Johalène J; Denis, Cécile V CV; Christophe, Olivier O; Susen, Sophie S; Goudemand, Jenny J; Boisseau, Pierre P; Neviere, Rémi R; Pierre-Louis, Olivier O
Publication Date: 2020-10

Variant appearance in text: VWF: Asp1472His
PubMed Link: 33134807
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0040-1718703.pdf
View BVdb publication page



Laboratory variability in the diagnosis of type 2 VWD variants.

Journal Of Thrombosis And Haemostasis : Jth
DiGiandomenico, Stefanie S; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Abshire, Thomas C TC; Montgomery, Robert R RR; Flood, Veronica H VH; ,
Publication Date: 2021-01

Variant appearance in text: VWF: D1472H
PubMed Link: 33049112
Variant Present in the following documents:
  • Main text
View BVdb publication page



von Willebrand factor variant D1472H has no effect in mice with humanized VWF-platelet interactions.

Blood Advances
Lohmeier, Hannah K HK; Slobodianuk, Tricia L TL; Kanaji, Sachiko S; Haberichter, Sandra L SL; Montgomery, Robert R RR; Flood, Veronica H VH
Publication Date: 2020-09-08

Variant appearance in text: VWF: D1472H
PubMed Link: 32870970
Variant Present in the following documents:
  • Main text
View BVdb publication page



The relationship between ABO blood group, von Willebrand factor, and primary hemostasis.

Blood
Ward, Soracha E SE; O'Sullivan, Jamie M JM; O'Donnell, James S JS
Publication Date: 2020-12-17

Variant appearance in text: VWF: D1472H
PubMed Link: 32785650
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: D1472H
PubMed Link: 32573891
Variant Present in the following documents:
  • Main text
View BVdb publication page



New developments in von Willebrand disease.

British Journal Of Haematology
Fogarty, Helen H; Doherty, Dearbhla D; O'Donnell, James S JS
Publication Date: 2020-11

Variant appearance in text: VWF: D1472H
PubMed Link: 32394456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: VWF: 4414G>C; D1472H; rs1800383
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Case-based discussion on the implications of exogenous estrogens in hemostasis and thrombosis: the hematologist's view.

Hematology. American Society Of Hematology. Education Program
Ragni, Margaret V MV
Publication Date: 2019-12-06

Variant appearance in text: VWF: D1472H
PubMed Link: 31808846
Variant Present in the following documents:
  • Main text
View BVdb publication page



New advances in the diagnosis of von Willebrand disease.

Hematology. American Society Of Hematology. Education Program
Sharma, Ruchika R; Haberichter, Sandra L SL
Publication Date: 2019-12-06

Variant appearance in text: VWF: D1472H
PubMed Link: 31808831
Variant Present in the following documents:
  • Main text
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: VWF: 4414G>C; Asp1472His; rs1800383
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Bleeding disorders in adolescents with heavy menstrual bleeding in a multicenter prospective US cohort.

Haematologica
Zia, Ayesha A; Jain, Shilpa S; Kouides, Peter P; Zhang, Song S; Gao, Ang A; Salas, Niavana N; Lau, May M; Wilson, Ellen E; DeSimone, Nicole N; Sarode, Ravi R
Publication Date: 2020-07

Variant appearance in text: VWF: D1472H
PubMed Link: 31624107
Variant Present in the following documents:
  • Main text
  • 1051969.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: VWF: D1472H; rs1800383
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.

Current Opinion In Hematology
Flood, Veronica H VH; Garcia, Jessica J; Haberichter, Sandra L SL
Publication Date: 2019-09

Variant appearance in text: VWF: D1472H
PubMed Link: 31261173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Establishment of an International Reference Reagent for standardization of von Willebrand factor binding to recombinant glycoprotein Ib (VWF:GPIbM and VWF:GPIbR): Official Communication of the SSC.

Journal Of Thrombosis And Haemostasis : Jth
Hubbard, Anthony R AR; Haberichter, Sandra L SL; ,
Publication Date: 2019-06

Variant appearance in text: VWF: D1472H
PubMed Link: 31102313
Variant Present in the following documents:
  • Main text
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: VWF: 4414G>C; Asp1472His
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: VWF: 4414G>C; Asp1472His; rs1800383
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: VWF: 4414G>C; D1472H; rs1800383
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
View BVdb publication page



An international collaborative study to compare different von Willebrand factor glycoprotein Ib binding activity assays: the COMPASS-VWF study.

Journal Of Thrombosis And Haemostasis : Jth
Szederjesi, A A; Baronciani, L L; Budde, U U; Castaman, G G; Lawrie, A S AS; Liu, Y Y; Montgomery, R R; Peyvandi, F F; Schneppenheim, R R; Várkonyi, A A; Patzke, J J; Bodó, I I
Publication Date: 2018-06-13

Variant appearance in text: VWF: D1472H
PubMed Link: 29897666
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in the diagnosis and treatment of Von Willebrand disease.

Hematology. American Society Of Hematology. Education Program
Sharma, Ruchika R; Flood, Veronica H VH
Publication Date: 2017-12-08

Variant appearance in text: VWF: D1472H
PubMed Link: 29222282
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in the diagnosis and treatment of Von Willebrand disease.

Blood
Sharma, Ruchika R; Flood, Veronica H VH
Publication Date: 2017-11-30

Variant appearance in text: VWF: D1472H
PubMed Link: 29187375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and laboratory phenotype variability in type 2M von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Doruelo, A L AL; Haberichter, S L SL; Christopherson, P A PA; Boggio, L N LN; Gupta, S S; Lentz, S R SR; Shapiro, A D AD; Montgomery, R R RR; Flood, V H VH
Publication Date: 2017-08

Variant appearance in text: VWF: D1472H
PubMed Link: 28544236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: VWF: D1472H; rs1800383
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Single-cell RNA-seq enables comprehensive tumour and immune cell profiling in primary breast cancer.

Nature Communications
Chung, Woosung W; Eum, Hye Hyeon HH; Lee, Hae-Ock HO; Lee, Kyung-Min KM; Lee, Han-Byoel HB; Kim, Kyu-Tae KT; Ryu, Han Suk HS; Kim, Sangmin S; Lee, Jeong Eon JE; Park, Yeon Hee YH; Kan, Zhengyan Z; Han, Wonshik W; Park, Woong-Yang WY
Publication Date: 2017-05-05

Variant appearance in text: VWF: 4414G>C; D1472H; rs1800383
PubMed Link: 28474673
Variant Present in the following documents:
  • ncomms15081-s2.xlsx, sheet 1
View BVdb publication page



What have we learned from large population studies of von Willebrand disease?

Hematology. American Society Of Hematology. Education Program
Montgomery, Robert R RR; Flood, Veronica H VH
Publication Date: 2016-12-02

Variant appearance in text: VWF: D1472H
PubMed Link: 27913545
Variant Present in the following documents:
  • Main text
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Rapid discrimination of the phenotypic variants of von Willebrand disease.

Blood
Roberts, Jonathan C JC; Morateck, Patti A PA; Christopherson, Pamela A PA; Yan, Ke K; Hoffmann, Raymond G RG; Gill, Joan Cox JC; Montgomery, Robert R RR; ,
Publication Date: 2016-05-19

Variant appearance in text: VWF: D1472H
PubMed Link: 26917779
Variant Present in the following documents:
  • Main text
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Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.

Blood
Flood, Veronica H VH; Christopherson, Pamela A PA; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Bellissimo, Daniel B DB; Udani, Rupa A RA; Dasgupta, Mahua M; Hoffmann, Raymond G RG; Ragni, Margaret V MV; Shapiro, Amy D AD; Lusher, Jeanne M JM; Lentz, Steven R SR; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Manco-Johnson, Marilyn J MJ; Gruppo, Ralph A RA; Boggio, Lisa N LN; Montgomery, Kate T KT; Goodeve, Anne C AC; James, Paula D PD; Lillicrap, David D; Peake, Ian R IR; Montgomery, Robert R RR
Publication Date: 2016-05-19

Variant appearance in text: VWF: D1472H
PubMed Link: 26862110
Variant Present in the following documents:
  • Main text
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Additional markers for genetic diagnosis of type 3 von Willebrand disease in Indian population.

The Indian Journal Of Medical Research
Kasatkar, Priyanka P; Ghosh, Kanjaksha K; Shetty, Shrimati S
Publication Date: 2015-12

Variant appearance in text: VWF: D1472H; rs1800383
PubMed Link: 26831425
Variant Present in the following documents:
  • Main text
  • IJMR-142-759.pdf
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1800383
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: D1472H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: rs1800383
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM3_ESM.xls, sheet 1
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Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Blood
Chen, Junmei J; Hinckley, Jesse D JD; Haberichter, Sandra S; Jacobi, Paula P; Montgomery, Robert R; Flood, Veronica H VH; Wong, Randall R; Interlandi, Gianluca G; Chung, Dominic W DW; López, José A JA; Di Paola, Jorge J
Publication Date: 2015-07-09

Variant appearance in text: VWF: D1472H
PubMed Link: 26019279
Variant Present in the following documents:
  • Main text
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Platelet-dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH.

Journal Of Thrombosis And Haemostasis : Jth
Bodó, I I; Eikenboom, J J; Montgomery, R R; Patzke, J J; Schneppenheim, R R; Di Paola, J J; ,
Publication Date: 2015-07

Variant appearance in text: VWF: D1472H
PubMed Link: 25858564
Variant Present in the following documents:
  • Main text
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Diagnostic approach to von Willebrand disease.

Blood
Ng, Christopher C; Motto, David G DG; Di Paola, Jorge J
Publication Date: 2015-03-26

Variant appearance in text: VWF: D1472H
PubMed Link: 25712990
Variant Present in the following documents:
  • Main text
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Perils, problems, and progress in laboratory diagnosis of von Willebrand disease.

Seminars In Thrombosis And Hemostasis
Flood, Veronica H VH
Publication Date: 2014-02

Variant appearance in text: VWF: D1472H
PubMed Link: 24338593
Variant Present in the following documents:
  • Main text
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von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.

Blood
Lillicrap, David D
Publication Date: 2013-11-28

Variant appearance in text: VWF: D1472H
PubMed Link: 24065240
Variant Present in the following documents:
  • Main text
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The Role of Bleeding History and Clinical Markers for the Correct Diagnosis of VWD.

Mediterranean Journal Of Hematology And Infectious Diseases
Tosetto, Alberto A
Publication Date: 2013

Variant appearance in text: VWF: D1472H
PubMed Link: 23936622
Variant Present in the following documents:
  • Main text
  • mjhid-5-1-e2013051.pdf
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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: Asp1472His
PubMed Link: 23690449
Variant Present in the following documents:
  • Main text
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No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation.

Blood
Flood, Veronica H VH; Friedman, Kenneth D KD; Gill, Joan Cox JC; Haberichter, Sandra L SL; Christopherson, Pamela A PA; Branchford, Brian R BR; Hoffmann, Raymond G RG; Abshire, Thomas C TC; Dunn, Amy L AL; Di Paola, Jorge A JA; Hoots, W Keith WK; Brown, Deborah L DL; Leissinger, Cindy C; Lusher, Jeanne M JM; Ragni, Margaret V MV; Shapiro, Amy D AD; Montgomery, Robert R RR
Publication Date: 2013-05-02

Variant appearance in text: VWF: 4414G>C; D1472H
PubMed Link: 23520336
Variant Present in the following documents:
  • Main text
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