ArticleThrombosis and haemostasis2022
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
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Article in Thrombosis and haemostasis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15citing papers in PubMed
1.8field-weighted citation impact, top 14% of its field
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.European journal of human genetics : EJHG · 2026Article
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- An RHD gene variant, common in southern Chinese Han, involves a short 688 bp deletion and a long 21.8 kb insertion in the RHD exon 10 non-coding region, affecting the accuracy of red cell genotyping.Journal of translational medicine · 2026Article
- SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China.Orphanet journal of rare diseases · 2026Article
- Genetic analysis using long-read sequencing to overcome the difficulties inResearch and practice in thrombosis and haemostasis · 2025Article
- Advanced analysis of retrotransposon variation in the human genome with nanopore sequencing using RetroInspector.Scientific reports · 2025Article
- The landscape of non-reference SINE-VNTR-Alus in amyotrophic lateral sclerosis.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.NPJ genomic medicine · 2024Article
- Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency.International journal of hematology · 2024Article
- The landscape of human SVA retrotransposons.Nucleic acids research · 2023Article
- Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing.iScience · 2023Article
- Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.American journal of human genetics · 2023Article
- Improvement of large copy number variant detection by whole genome nanopore sequencing.Journal of advanced research · 2023Article
- A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2023Article
- Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
19 authors at 10 institutions in 5 countries.
Belén de la Morena-BarrioServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad de Murcia, Murcia, Spain.ORCID 0000-0002-6696-7762
Jonathan StephensDepartment of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom.
María Eugenia de la Morena-BarrioServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad de Murcia, Murcia, Spain.ORCID 0000-0001-7426-4947
Luca StefanucciDepartment of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom.
José PadillaServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad de Murcia, Murcia, Spain.
Antonia MiñanoServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad de Murcia, Murcia, Spain.
Nicholas GleadallDepartment of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom.
Juan Luis GarcíaServicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
María Fernanda López-FernándezServicio de Hematología, Complexo Hospitalario Universitario de A Coruña, A Coruña, Spain.
Pierre-Emmanuel MorangeLaboratory of Haematology, La Timone Hospital, Marseille, France.
Marja PuurunenThe Framingham Heart Study, National Heart, Lung and Blood Institute, Framingham, Massachusetts, United States.
Anetta UndasDepartment of Experimental Cardiac Surgery, Anesthesiology and Cardiology, Institute of Cardiology, Jagiellonian University Medical College and John Paul II Hospital, Kraków, Poland.
Francisco VidalBanc de Sang i Teixits, Barcelona, Spain.ORCID 0000-0001-8089-4945
Frances Lucy RaymondNIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Vicente VicenteServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad de Murcia, Murcia, Spain.
Willem H OuwehandDepartment of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom.
Javier CorralServicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad de Murcia, Murcia, Spain.
Alba Sanchis-JuanDepartment of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, United Kingdom.
NIHR BioResource
Centre for Biomedical Network Research on Rare Diseases · ESNHS Blood and Transplant · GBComplejo Hospitalario de Salamanca · ESComplexo Hospitalario Universitario A Coruña · ESInserm · FRJagiellonian University · PLNational Health Service · GBNational Heart Lung and Blood Institute · USUniversitat Autònoma de Barcelona · ESUniversity of Cambridge · GB
Funding
19873/GERM/15 Fundación SénecaMedical Research Council MR/P02002X/1PI18/00598 National Institute for Health Research England (NIHR) for the NIHR BioResource projectPI21/00174 National Institute for Health Research England (NIHR) for the NIHR BioResource projectPMP21/00052 National Institute for Health Research England (NIHR) for the NIHR BioResource projectRG65966 National Institute for Health Research England (NIHR) for the NIHR BioResource projectRG94028 National Institute for Health Research England (NIHR) for the NIHR BioResource project
Abstract
The identification of inherited antithrombin deficiency (ATD) is critical to prevent potentially life-threatening thrombotic events. Causal variants in
Indexed as
Antithrombin III DeficiencyRetroelementsAntithrombinsHumansNucleotidesAntithrombinsNucleotidesRetroelements
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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.