ArticleHaematologica2019
Unraveling the effect of silent, intronic and missense mutations on
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Haematologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02869074 (Molecular and Clinical Profile of Von Willebrand Disease), which is not on this map. Cited by 11 papers.
0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.5field-weighted citation impact, top 17% of its field
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.
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.
Molecular and Clinical Profile of Von Willebrand Disease (VWD) in Spain (PCM-EVW-ES). Recruitment Extension, Further Data Analysis, Improvement of Registry Platform, Diagnosis and Management of VWD Application Development
Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.British journal of haematology · 2026Article
- Molecular genetic testing in von Willebrand disease: past, present, and beyond.Haematologica · 2026Review
- Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.BMC genomics · 2025Article
- POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.Italian journal of pediatrics · 2025Article
- Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.Molecular genetics & genomic medicine · 2025Article
- Clinical utility of panel-based genetic sequencing for von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Article
- Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions.Journal of thrombosis and haemostasis : JTH · 2023Article
- A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient.International journal of molecular sciences · 2021Article
- TheCancers · 2021Article
- 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 · 2020Article
- Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.Haematologica · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
52 authors at 20 institutions in 2 countries.
Nina BorràsBanc de Sang i Teixits, Barcelona, Spain.
Gerard OrriolsBanc de Sang i Teixits, Barcelona, Spain.
Javier BatlleComplexo Hospitalario Universitario A Coruña, INIBIC, Spain.
Almudena Pérez-RodríguezComplexo Hospitalario Universitario A Coruña, INIBIC, Spain.
Teresa FidalgoCentro Hospitalar e Universitário de Coimbra, Portugal.
Patricia MartinhoCentro Hospitalar e Universitário de Coimbra, Portugal.
María Fernanda López-FernándezComplexo Hospitalario Universitario A Coruña, INIBIC, Spain.
Ángela Rodríguez-TrilloComplexo Hospitalario Universitario A Coruña, INIBIC, Spain.
Esther LourésComplexo Hospitalario Universitario A Coruña, INIBIC, Spain.
Rafael ParraBanc de Sang i Teixits, Barcelona, Spain.
Carme AltisentInstitut de Recerca Vall d'Hebron -Universitat Autònoma de Barcelona (VHIR-UAB), Spain.
Ana Rosa CidHospital Universitario y Politécnico La Fe, Valencia, Spain.
Santiago BonanadHospital Universitario y Politécnico La Fe, Valencia, Spain.
Noelia CabreraHospital Universitario y Politécnico La Fe, Valencia, Spain.
Andrés MoretHospital Universitario y Politécnico La Fe, Valencia, Spain.
María Eva Mingot-CastellanoHospital Regional Universitario de Málaga, Spain.
Nira NavarroHospital Universitario Dr. Negrín, Las Palmas de Gran Canaria, Spain.
Rocío Pérez-MontesHospital Universitario Marqués de Valdecilla, Santander, Spain.
Sally MarcellinSalud Castilla y León, Segovia, Spain.
Ana MoretoHospital Universitario Cruces, Barakaldo, Spain.
Sonia HerreroHospital Universitario de Guadalajara, Spain.
Inmaculada SotoHospital Universitario Central de Asturias, Oviedo, Spain.
Núria Fernández-MosteirínHospital Universitario Miguel Servet, Zaragoza, Spain.
Víctor Jiménez-YusteHospital Universitario La Paz, Madrid, Spain.
Nieves AlonsoHospital Infanta Cristina, Badajoz, Spain.
Aurora de Andrés-JacobComplexo Hospitalario Universitario Santiago de Compostela, Spain.
Emilia FontanesHospital Universitario Lucus Augusti, Lugo, Spain.
Rosa CamposHospital Jerez de la Frontera, Cádiz, Spain.
María José PalomaHospital Virgen del Camino, Pamplona, Spain.
Nuria BermejoHospital San Pedro de Alcántara, Cáceres, Spain.
Ruben BerruecoHospital Sant Joan de Deu, Barcelona, Spain.
José MateoHospital Sta Creu i St Pau, Barcelona, Spain.
Karmele ArribalzagaHospital Universitario Fundación de Alcorcón, Madrid, Spain.
Pascual MarcoHospital General de Alicante, Spain.
Ángeles PalomoHospital Regional Universitario Carlos Haya, Málaga, Spain.
Nerea Castro QuismondoHospital Universitario 12 de Octubre, Madrid, Spain.
Belén IñigoHospital Clínico San Carlos, Madrid, Spain.
María Del Mar NietoComplejo Hospitalario de Jaén, Spain.
Rosa VidalFundación Jiménez Díaz, Madrid, Spain.
María Paz MartínezHospital Nuestra Sra. de Sonsoles de Ávila, Spain.
Reyes AguinacoHospital Joan XXIII, Tarragona, Spain.
Jesús María TenorioHospital Montecelo, Pontevedra, Spain.
María FerreiroHospital Montecelo, Pontevedra, Spain.
Javier García-FradeHospital Río Hortega, Valladolid, Spain.
Ana María Rodríguez-HuertaHospital Gregorio Marañón, Madrid, Spain.
Jorge CuestaHospital Virgen de la Salud, Toledo, Spain.
Ramón Rodríguez-GonzálezHospital Severo Ochoa, Madrid, Spain.
Faustino García-CandelHospital Universitario Virgen Arrixaca, Murcia, Spain.
Manuela DobónHospital Lozano Blesa, Zaragoza, Spain.
Carlos AguilarHospital Santa Bárbara, Soria, Spain.
Francisco VidalBanc de Sang i Teixits, Barcelona, Spain icorrales@bst.cat fvidal@bst.cat.
Irene CorralesBanc de Sang i Teixits, Barcelona, Spain icorrales@bst.cat fvidal@bst.cat.
Hospital Universitari i Politècnic La Fe · ESBanc de Sang i Teixits · ESComplexo Hospitalario Universitario A Coruña · ESVall d'Hebron Institut de Recerca · ESHospitais da Universidade de Coimbra · PTHospital Montecelo · ESHospital Regional Universitario de Málaga · ESInstituto de Investigación Biomédica de A Coruña · ESComplejo Hospitalario de Jaén · ESComplejo Hospitalario Universitario de Santiago · ESHospital Clínico San Carlos · ESHospital Clínico Universitario Lozano Blesa · ESHospital de Cruces · ESHospital General Universitario de Alicante Doctor Balmis · ESHospital General Universitario Gregorio Marañón · ESHospital Jerez Puerta del Sur · ESHospital Nuestra Señora de Alarcos · ESHospital San Pedro de Alcántara · ESHospital Sant Joan de Déu Barcelona · ESHospital Sant Pau i Santa Tecla · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on
Indexed as
Gene SilencingIntronsMutation, MissenseRNA SplicingAllelesBase SequenceBlood PlateletsComputational BiologyExonsFemaleGene FrequencyGenotypeHigh-Throughput Nucleotide SequencingHumansLeukocytesMaleRNA, MessengerRNA Splice Sitesvon Willebrand Factor
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
NCT02869074ClinicalTrials.gov
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.