Author details

Full Name

Paola Benaglio

Affiliation

ORCID

Career Start Year

2010

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36778506	An integrated map of cell type-specific gene expression in pancreatic islets.		2023
37582230	An Integrated Map of Cell Type-Specific Gene Expression in Pancreatic Islets.		2023
37289818	Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex immune trait variants using single nucleus ATAC-seq in peripheral blood.	PLoS Genet	2023
36778047	Type 1 diabetes risk genes mediate pancreatic beta cell survival in response to proinflammatory cytokines.	Cell Genom	2022
33505025	Systematic analysis of binding of transcription factors to noncoding variants.	Nature	2021
33639972	FOXO1 mitigates the SMAD3/FOXL2 transcriptomic effect in a model of human adult granulosa cell tumor.	Journal of Translational Medicine	2021
34012112	Interpreting type 1 diabetes risk with genetics and single-cell epigenomics.	Nature	2021
33983929	Glucocorticoid signaling in pancreatic islets modulates gene regulatory programs and genetic risk of type 2 diabetes.	PLoS Genetics	2021
31080113	Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.	Stem Cell Reports	2019
31570892	Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.	Nat Genet	2019
30044985	Insights into the Mutational Burden of Human Induced Pluripotent Stem Cells from an Integrative Multi-Omics Approach.	Cell Rep	2018
28410642	iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.	Stem Cell Reports	2017
28388874	Pgltools: a genomic arithmetic tool suite for manipulation of Hi-C peak and other chromatin interaction data.	BMC Bioinformatics	2017
28388430	Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.	Cell Stem Cell	2017
27355579	Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.	PLoS Genet	2016
24803113	Comparative genome analysis of Pseudomonas knackmussiiâ¿¿B13, the first bacterium known to degrade chloroaromatic compounds.	Environ Microbiol	2015
25745418	Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights.	Front Microbiol	2015
26426971	The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.	PLoS Genet	2015
24959063	Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.	Mol Vis	2014
23583979	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Nat Genet	2013
24043777	Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.	Proc Natl Acad Sci U S A	2013
24019403	Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene.	Hypertension	2013
22184326	Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.	Hypertension	2012
21618346	Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.	Hum Mutat	2011
21494657	Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.	PLoS One	2011
20927379	Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.	PLoS One	2010