Jorge P. Ferrer

The paper constructs a single-cell multiomics atlas of the human pancreas across development, health, and T2D, identifying plastic cell states and lineage trajectories.

The paper shows that chromatin folding is organized by recurrent motifs that are reweighted across cell types and states, revealing a structured framework for chromatin variability.

The paper identifies shared genetic regulation across mRNA, proteins, and metabolites in blood, revealing networks and mediators of GWAS variants.

This study identifies genetic variants associated with glycaemic response to GLP-1 receptor agonists using observational and trial data, finding variants in GLP-1R and ARRB1 linked to HbA1c reduction.

This study identifies regulatory de novo mutations in fetal brain-specific enhancers as a significant contributor to intellectual disability.

The paper identifies splicing QTLs in human pancreatic islets that contribute to type 2 diabetes susceptibility by affecting gene splicing and revealing novel molecular mechanisms.

The paper identifies a microexon program in pancreatic islets regulated by SRRM3, which affects insulin secretion and is linked to type 2 diabetes risk.

The paper creates TIGER, a resource integrating RNA-seq and genotyping data from human pancreatic islets to identify eQTLs and their associations with type 2 diabetes.

The paper evaluates the Hnf1b-CreERT2 reporter system in adult pancreatic duct and δ cells, finding high recombination efficiency in duct cells but low in β cells and partial activation in δ cells.

This study identifies HASTER, a lncRNA that stabilizes HNF1A expression through cis-regulatory mechanisms, and shows its disruption leads to diabetes.

The paper shows that a mutation associated with neonatal diabetes disrupts chromatin activation of the insulin gene in human cells.

The paper shows REST inhibits pancreatic endocrine differentiation in mice, zebrafish, and human organoids, identifying it as a key negative regulator.

The paper identifies rare non-coding variants from whole genome sequencing in the TOPMed program, showing they contribute significantly to type 2 diabetes heritability.

This study shows HNF1A recruits UTX to activate a differentiation program that suppresses pancreatic cancer by remodeling enhancers and inhibiting oncogenic pathways.

The paper identifies de novo variants in fetal brain enhancers linked to intellectual disability by analyzing genomic data from affected individuals and their parents.

The paper links diabetes-associated enhancers with their target genes using 3D chromatin architecture in human pancreatic islets, revealing genetic variants that impact insulin secretion heritability.

This study investigates the association between genetic variants in PMAT and OCT1 transporters and metformin gastrointestinal intolerance in type 2 diabetes patients.

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

This study identifies direct Hes1 target genes in pancreatic progenitor cells, revealing Notch signaling's role in repressing tip cell fate through repression of key regulators like Ptf1a and Gata4.

The paper identifies HES1 target genes using ChIP-seq and RNA-seq in hESC lines, revealing HES1's role in pancreatic development through Notch pathway regulation and suppression of intestinal gene programs.

matchSCore matches cell populations across tools, experiments, and technologies by comparing clustering and marker gene identification accuracy in simulated data and applying it to mouse and human cell atlas projects.

The paper reanalyzes T2D GWAS data to identify a rare X chromosome variant associated with increased T2D risk in males.

This study identifies β cell-specific lncRNAs that regulate transcriptional networks and show dysregulation in type 2 diabetes.