Associated Papers
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc5.xlsx › Suppl_Table_5A
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S11
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
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
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
Mutations Accounting for Congenital Fibrinogen Disorders: An Update.
Richard M et al.
Seminars in Thrombosis and Hemostasis, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1
Characterization of rare germline variants in familial multiple myeloma.
Catalano C et al.
Blood Cancer Journal, 2021
33583942 (PubMed )
Supplement: 41408_2021_422_MOESM1_ESM.pdf
Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy.
Merkulova AA et al.
Frontiers in Medicine, 2020
Congenital structural and functional fibrinogen disorders: a primer for internists.
Undas A et al.
Polish Archives of Internal Medicine, 2019
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.
Paraboschi EM et al.
International Journal of Molecular Sciences, 2017
29240685 (PubMed )
Supplement: ijms-18-02711-s001.pdf
Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.
Ali SK et al.
Journal of Biomolecular Structure & Dynamics, 2017
A comprehensive strategy for exome-based preconception carrier screening.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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