Associated Papers
Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.
Mayfield CK et al.
The Journal of Arthroplasty, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Novel compound heterozygous mutations in plasminogen (p.Gly568Arg/p.Ala620Thr) impair protein structure and function in type II deficiency: mechanistic insights into a hereditary thrombogenic disorder.
Lu Y et al.
Orphanet Journal of Rare Diseases, 2025
Plasminogen mutation-associated thrombotic microangiopathy and role of anticoagulation: a single institution case series.
Agarwal S et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy.
Dirim AB et al.
Nephron, 2024
Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.
Brito-Robinson T et al.
Frontiers in Cardiovascular Medicine, 2024
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
Panfili FM et al.
Italian Journal of Pediatrics, 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Fierheller CT et al.
Genes, 2023
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review.
Xu L et al.
Ophthalmic Genetics, 2021
Multi-omic studies on missense PLG variants in families with otitis media.
Bootpetch TC et al.
Scientific Reports, 2020
An international registry of patients with plasminogen deficiency (HISTORY).
Shapiro AD et al.
Haematologica, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Thrombin and plasmin generation in patients with plasminogen or plasminogen activator inhibitor type 1 deficiency.
Saes JL et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Treatment of plasminogen deficiency patients with fresh frozen plasma.
Kızılocak H et al.
Pediatric Blood & Cancer, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease.
Martin-Fernandez L et al.
Scientific Reports, 2016
Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea.
Cheong HI et al.
Journal of Korean Medical Science, 2016
Novel plasminogen gene mutations in Turkish patients with type I plasminogen deficiency.
Dönmez-Demir B et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2016
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
Sadovnick AD et al.
G3 (bethesda, Md.), 2016
Detection and interpretation of shared genetic influences on 42 human traits.
Pickrell JK et al.
Nature Genetics, 2016
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013