Associated Papers
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Palma-Barqueros V et al.
Blood Advances, 2021
Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.
Hou Y et al.
Platelets, 2021
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST6
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
34355501 (PubMed )
Supplement: JTH-19-2612-s002.pdf
Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.
Paracchini L et al.
Alzheimer's Research & Therapy, 2018
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
Andres O et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2018
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.
Stuchlý J et al.
Scientific Reports, 2017
Rare and low-frequency variants in human common diseases and other complex traits.
Lettre G
Journal of Medical Genetics, 2014
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
Auer PL et al.
Nature Genetics, 2014
Structural impact of pathogenic SNPs on β-tubulin using molecular dynamics study.
Mansoor Hussain UH et al.
Journal of Biomolecular Structure & Dynamics, 0
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