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Luca Stefanucci

University of Cambridge

4

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Familial pseudohyperkalemia induces significantly higher levels of extracellular potassium in early storage of red cell concentrates without affecting other standard measures of quality: a case control and allele frequency study.

2021 Transfusion
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A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.

2021 PLOS Genetics
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

2019 Blood
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

2018 Genome Medicine
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Citations (71)