Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies.
Gu SX et al.
Blood Cells, Molecules & Diseases, 2025
Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.
Zhang S et al.
Hematology (amsterdam, Netherlands), 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Establishment of a Bernard-Soulier syndrome model in zebrafish.
Lin Q et al.
Haematologica, 2022
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
Little A et al.
Human Molecular Genetics, 2022
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Vuckovic D et al.
Cell, 2020
Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.
Minkov M et al.
Frontiers in Pediatrics, 2020
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
Management of haemostasis during dental extraction in a Bernard-Soulier syndrome child.
Sharma S et al.
Bmj Case Reports, 2019
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Saes JL et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Romasko EJ et al.
American Journal of Hematology, 2018
Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.
Boeckelmann D et al.
Blood Cells, Molecules & Diseases, 2017
A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations.
Kanda K et al.
Human Genome Variation, 2017
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation, 2014
Procoagulant platelets form an α-granule protein-covered "cap" on their surface that promotes their attachment to aggregates.
Abaeva AA et al.
The Journal of Biological Chemistry, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0