Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Proinflammatory phenotype of iPS cell-derived JAK2 V617F megakaryocytes induces fibrosis in 3D in vitro bone marrow niche.
Flosdorf N et al.
Stem Cell Reports, 2024
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.
Sokkar MF et al.
Journal, Genetic Engineering & Biotechnology, 2023
Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.
Shah A et al.
Annals of Hematology, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.
Niwinska A et al.
Diagnostics (basel, Switzerland), 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma.
Hylebos M et al.
Familial Cancer, 2018
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.
Singleton BK et al.
British Journal of Haematology, 2013
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
British Journal of Haematology, 2009
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
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation.
Gandhi MJ et al.
Experimental Hematology, 2005
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