Evidence map›Paper›PMID 26862110›Full record

ArticleBlood2016

Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.

Veronica H Flood, Pamela A Christopherson, Joan Cox Gill, Kenneth D Friedman, Sandra L Haberichter, Daniel B Bellissimo, Rupa A Udani, Mahua Dasgupta, Raymond G Hoffmann, Margaret V Ragni and 15 more

Registry-linked trialAbstract readComparative StudyMulticenter Study
In one paragraph

Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05116501 (Novel Insights Into the Genetic Background of Patients With Low Von Willebrand Factor Levels Using Next-generation Sequencing), which is not on this map. Cited by 68 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 3 pooled it
10.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05116501 nacompletednot on this mapstarted 2022, after this paper: background citation

Novel Insights Into the Genetic Background of Patients With Low Von Willebrand Factor Levels Using Next-generation Sequencing

TypeinterventionalSponsorFondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoRan2022 to 2025Enrolled254ConditionsLow Von Willebrand FactorArmsWhole-exome sequencing
3 · Its place in the literature

Who cites it

68 citing papers in PubMed, 3 syntheses or guidelines pooled it, 127 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Trial
  6. Seventh Åland Island Meeting on von Willebrand Disease.Haemophilia : the official journal of the World Federation of Hemophilia · 2026
    Article
  7. Von Willebrand disease: A century of progress.Research and practice in thrombosis and haemostasis · 2026
    Review
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Genetic analysis using long-read sequencing to overcome the difficulties inResearch and practice in thrombosis and haemostasis · 2025
    Article
  15. Article
  16. Challenges and considerations of genetic testing in von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025
    Review
  17. Application of genetic testing for the diagnosis of von Willebrand disease.Journal of thrombosis and haemostasis : JTH · 2024
    Review
  18. von Willebrand disease.Nature reviews. Disease primers · 2024
    Review
  19. Article
  20. Article

8 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors at 14 institutions in 3 countries.

Veronica H FloodDivision of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI; Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI; Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;
Pamela A ChristophersonBlood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;
Joan Cox GillDivision of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI; Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI; Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;
Kenneth D FriedmanBlood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI; Division of Hematology/Oncology, Department of Medicine, and.
Sandra L HaberichterDivision of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI; Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI; Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;
Daniel B BellissimoBlood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;
Rupa A UdaniBlood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;
Mahua DasguptaDivision of Quantitative Health Sciences, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI;
Raymond G HoffmannDivision of Quantitative Health Sciences, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI;
Margaret V RagniDivision of Hematology/Oncology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA;
Amy D ShapiroIndiana Hemophilia and Thrombosis Center, Indianapolis, IN;
Jeanne M LusherDivision of Hematology, Children's Hospital of Michigan, Detroit, MI;
Steven R LentzDepartment of Internal Medicine, University of Iowa, Iowa City, IA;
Thomas C AbshireDivision of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI; Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI; Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI; Division of Hematology/Oncology, Department of Medicine, and Department of Pediatrics, Emory University School of Medicine, Atlanta, GA;
Cindy LeissingerDepartments of Medicine, Pediatrics, and Pathology, Tulane University School of Medicine, New Orleans, LA;
W Keith HootsDepartment of Pediatrics, University of Texas Health Science Center, Houston, TX;
Marilyn J Manco-JohnsonMountain States Regional Hemophilia and Thrombosis Center, Aurora, CO;
Ralph A GruppoDivision of Hematology/Oncology, Cincinnati Children's Hospital, Cincinnati, OH;
Lisa N BoggioRush Hemophilia and Thrombophilia Center, Rush University Medical Center, Chicago, IL;
Kate T MontgomeryPartners HealthCare Personalized Medicine, Cambridge, MA;
Anne C GoodeveHaemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom; and.
Paula D JamesDepartments of Medicine, and Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada.
David LillicrapDepartments of Medicine, and Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada.
Ian R PeakeHaemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom; and.
Robert R MontgomeryDivision of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI; Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI; Blood Research Institute, BloodCenter of Wisconsin, Milwaukee, WI;
Versiti Blood Center of Wisconsin · USMedical College of Wisconsin · USQueen's University · CAUniversity of Sheffield · GBChildren's Hospital of Michigan · USCincinnati Children's Hospital Medical Center · USIndiana Hemophilia and Thrombosis Center · USMass General Brigham · USRocky Mountain Diabetes and Osteoporosis Center · USRush University Medical Center · USThe University of Texas Health Science Center at Houston · USTulane University · USUniversity of Iowa · USUniversity of Pittsburgh · US

Funding

Zimmerman Program for the Molecular and Clinical Biology of VWDP01HL081588 · NHLBI · VERSITI WISCONSIN, INC. · PI MONTGOMERY, ROBERT R · 2005 to 2016
$19.3M
Comparative Effectiveness in the Diagnosis of VWDR01HL112614 · NHLBI · VERSITI WISCONSIN, INC. · PI ABSHIRE, THOMAS CALVIN, MONTGOMERY, ROBERT R · 2013 to 2018
$4.1M
Functional Implications of VWF A1 Domain PolymorphismsK08HL102260 · NHLBI · MEDICAL COLLEGE OF WISCONSIN · PI FLOOD, VERONICA H · 2010 to 2014
$662k
NHLBI NIH HHS K08 HL102260NHLBI NIH HHS P01 HL081588NHLBI NIH HHS R01 HL112614
6 · The paper itself

Abstract

von Willebrand disease (VWD) is the most common inherited bleeding disorder, and type 1 VWD is the most common VWD variant. Despite its frequency, diagnosis of type 1 VWD remains the subject of debate. In order to study the spectrum of type 1 VWD in the United States, the Zimmerman Program enrolled 482 subjects with a previous diagnosis of type 1 VWD without stringent laboratory diagnostic criteria. von Willebrand factor (VWF) laboratory testing and full-length VWF gene sequencing was performed for all index cases and healthy control subjects in a central laboratory. Bleeding phenotype was characterized using the International Society on Thrombosis and Haemostasis bleeding assessment tool. At study entry, 64% of subjects had VWF antigen (VWF:Ag) or VWF ristocetin cofactor activity below the lower limit of normal, whereas 36% had normal VWF levels. VWF sequence variations were most frequent in subjects with VWF:Ag <30 IU/dL (82%), whereas subjects with type 1 VWD and VWF:Ag ≥30 IU/dL had an intermediate frequency of variants (44%). Subjects whose VWF testing was normal at study entry had a similar rate of sequence variations as the healthy controls (14%). All subjects with severe type 1 VWD and VWF:Ag ≤5 IU/dL had an abnormal bleeding score (BS), but otherwise BS did not correlate with VWF:Ag. Subjects with a historical diagnosis of type 1 VWD had similar rates of abnormal BS compared with subjects with low VWF levels at study entry. Type 1 VWD in the United States is highly variable, and bleeding symptoms are frequent in this population.

Indexed as

AdolescentBlood Coagulation TestsComparative Genomic HybridizationFemaleGenetic VariationHemorrhageHumansMalePhenotypeSequence Analysis, DNASurveys and QuestionnairesUnited Statesvon Willebrand Disease, Type 1von Willebrand FactorYoung AdultVon Willebrand antigenvon Willebrand Factor

Identifiers

PMID26862110
PMCPMC4874228
OpenAlexW2260744446

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.