Associated Papers
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 › ST3.3
Rapid recurrence of a ruptured mucinous borderline ovarian tumor harboring K-RAS mutation followed by progression into anaplastic carcinoma with TP53 mutation.
Yang Y et al.
Heliyon, 2022
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Avramović V et al.
Human Genomics, 2021
34906245 (PubMed )
Supplement: 40246_2021_371_MOESM1_ESM.xlsx › S5
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.
Germeshausen M et al.
Haematologica, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians.
Newman LA et al.
Journal of Pediatric Hematology/oncology, 2017
Congenital amegakaryocytic thrombocytopenia: a brief review of the literature.
Al-Qahtani FS
Clinical Medicine Insights. Pathology, 2010
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
British Journal of Haematology, 2009
19388932 (PubMed )
Supplement: supplement_1.pdf
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
Fox NE et al.
Experimental Hematology, 2009
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
Germeshausen M et al.
Human Mutation, 2006
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism.
van den Oudenrijn S et al.
Blood, 2001
Implications of mutations in hematopoietic growth factor receptor genes in congenital cytopenias.
Germeshausen M et al.
Annals of the New York Academy of Sciences, 2001
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
Blood, 2001
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