Associated Papers
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD2
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P et al.
American Journal of Hematology, 2020
SeqHBase: a big data toolset for family based sequencing data analysis.
He M et al.
Journal of Medical Genetics, 2015
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Lyon GJ et al.
Discovery Medicine, 2011
Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.
Demina A et al.
Blood, 1998
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