CALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrier1 February 2025·2 mins
Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing27 November 2024·2 mins
Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins5 July 2024·2 mins
The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology23 January 2024·2 mins
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders23 November 2023·2 mins
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect1 October 2023·1 min
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing18 March 2023·2 mins
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency6 March 2023·2 mins
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect10 October 2022·2 mins
Implication of Hepsin from Primary Tumor in the Prognosis of Colorectal Cancer Patients24 June 2022·2 mins