J Stamatoyannopoulos
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View article: Resolving hematopoietic stem versus progenitor cell potential in the mouse dorsal aorta by differential <i>Runx1</i> +110 enhancer activity
Resolving hematopoietic stem versus progenitor cell potential in the mouse dorsal aorta by differential <i>Runx1</i> +110 enhancer activity Open
SUMMARY Hematopoietic stem cells (HSCs) are important in cell-based therapies for blood-related disorders. While progress has been made in the directed differentiation of pluripotent PSCs, such cultures promote hematopoietic progenitor cel…
View article: Role of HMGA2 Overexpression Caused By Specific Genetic <i>HMGA2</i> Aberrations in Disease Progression in Calreticulin-Mutated Myelofibrosis Patients
Role of HMGA2 Overexpression Caused By Specific Genetic <i>HMGA2</i> Aberrations in Disease Progression in Calreticulin-Mutated Myelofibrosis Patients Open
High mobility group AT hook 1 and 2 (HMGA1 and HMGA2) have been implicated as drivers of disease progression in patients with JAK2V617F+ myeloproliferative neoplasms (MPNs) (Andrieux et al. Genes Chromosomes Cancer 2004, Li et al. Blood 20…
View article: A genome scale transcriptional regulatory model of the human placenta
A genome scale transcriptional regulatory model of the human placenta Open
Gene regulation is essential to placental function and fetal development. We built a genome-scale transcriptional regulatory network (TRN) of the human placenta using digital genomic footprinting and transcriptomic data. We integrated 475 …
View article: Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations
Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations Open
Background: Genome-wide association study (GWAS) single nucleotide polymorphisms (SNPs) are known to preferentially co-locate to active regulatory elements in tissues and cell types relevant to disease aetiology. Further characterisation o…
View article: An encyclopedia of enhancer-gene regulatory interactions in the human genome
An encyclopedia of enhancer-gene regulatory interactions in the human genome Open
Identifying transcriptional enhancers and their target genes is essential for understanding gene regulation and the impact of human genetic variation on disease 1–6 . Here we create and evaluate a resource of >13 million enhancer-gene regu…
View article: Large-scale discovery of potent, compact and lineage specific enhancers for gene therapy vectors
Large-scale discovery of potent, compact and lineage specific enhancers for gene therapy vectors Open
Regulation of gene expression during cell development and differentiation is chiefly orchestrated by distal noncoding regulatory elements that precisely modulate cell selective gene activity. Gene therapy vectors rely on the cellular and c…
View article: P1358: MINING THE GENOME FOR ERYTHROID SPECIFIC ENHANCERS TO OPTIMIZE GENE THERAPY VECTORS FOR BETA-HEMOGLOBINOPATHIES
P1358: MINING THE GENOME FOR ERYTHROID SPECIFIC ENHANCERS TO OPTIMIZE GENE THERAPY VECTORS FOR BETA-HEMOGLOBINOPATHIES Open
Topic: 24. Gene therapy, cellular immunotherapy and vaccination - Biology & Translational Research Background: The evolution of gene therapy has led to the development of innovative therapeutic strategies for beta-hemoglobinopathies, inclu…
View article: Data from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
Data from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer Open
Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of developing breast cancer. To evaluate the contribution of PALB2 to familial breast cancer in the United States, we sequenced the …
View article: Supplementary Tables 1-4, Figure 1 from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
Supplementary Tables 1-4, Figure 1 from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer Open
Supplementary Tables 1-4, Figure 1 from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
View article: Supplementary Tables 1-4, Figure 1 from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
Supplementary Tables 1-4, Figure 1 from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer Open
Supplementary Tables 1-4, Figure 1 from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
View article: Data from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
Data from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer Open
Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of developing breast cancer. To evaluate the contribution of PALB2 to familial breast cancer in the United States, we sequenced the …
View article: Additional file 1 of Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation
Additional file 1 of Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation Open
Additional file 1. Age adjusted prevalence data of the 14 disorders in 24 global populations.
View article: Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits
Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits Open
Genetic association studies of many heritable traits resulting from physiological testing often have modest sample sizes due to the cost and burden of the required phenotyping. This reduces statistical power and limits discovery of multipl…