Associated Papers
Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.
Salzbrunn JB et al.
British Journal of Haematology, 2025
40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › CH_cohort
Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.
von Scheidt M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37546840 (PubMed )
Supplement: media-1.pdf
JAK2V617F variant allele frequency, non-driver mutations, single-nucleotide variants and polycythemia vera outcome.
Kanduła Z et al.
Journal of Cancer Research and Clinical Oncology, 2023
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Russell BE et al.
American Journal of Medical Genetics. Part A, 2023
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3
Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720-2A>G variant.
Kanduła Z et al.
Journal of Clinical Laboratory Analysis, 2022
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.
Zhao W et al.
Frontiers in Pediatrics, 2021
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
Leon E et al.
American Journal of Medical Genetics. Part A, 2020
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30158690 (PubMed )
Supplement: NIHMS973104-supplement-Table_S4.xlsx › Table_S4
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM et al.
Human Mutation, 2017
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