Associated Papers
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 2025
41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5
Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.
Farajzadeh-Dehkordi M et al.
Plos One, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.
Alhenc-Gelas M et al.
Thrombosis and Haemostasis, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
van Eyk CL et al.
Npj Genomic Medicine, 2019
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.
Wypasek E et al.
Polish Archives of Internal Medicine, 2017
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Lee EJ et al.
Blood Advances, 2017
Laboratory Limitations of Excluding Hereditary Protein C Deficiency by Chromogenic Assay: Discrepancies of Phenotype and Genotype.
Seidel H et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0
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