Rebecca H. Signer

BMI Interacts with the Genome to Regulate Gene Expression Globally, with Emphasis in the Brain and Gut

The paper identifies BMI-dynamic gene expression loci in the brain and gut, showing how BMI interacts with genetic variants to influence gene expression and disease-related pathways.

Chronic Overlapping Pain Conditions and Nociplastic Pain

The paper identifies genetic variants and pathways associated with nociplastic type pain using GWAS and TWAS analyses of chronic overlapping pain conditions.

Common genetic variation impacts molecular stress response in the brain

The paper identifies stress-interactive eQTLs that dysregulate gene expression in the brain under stress, uncovering novel genes linked to brain disorder risk in traumatic stress contexts.

Exploring the clinical consequences and genetic aetiology of adult weight trajectories

This study examines the genetic and clinical associations of adult weight trajectories using EHR data, identifying disease links and genetic risk factors for weight patterns.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

ClinPhen extracts and prioritizes patientphenotypes directly from medical records to accelerate genetic disease diagnosis

ClinPhen automatically extracts and prioritizes patient phenotypes from medical records to improve genetic disease diagnosis efficiency.