Associated Papers
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L et al.
Nature Communications, 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
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero FG et al.
Platelets, 2018
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E et al.
British Journal of Haematology, 2017
28748566 (PubMed )
Supplement: BJH-179-308-s001.docx
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
Nurden AT et al.
American Journal of Hematology, 2016
Congenital platelet disorders and understanding of platelet function.
Nurden AT et al.
British Journal of Haematology, 2014
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA et al.
Nature Genetics, 2011
Select a paper to view details