Allan I Pack

Cross-species variant-to-function analyses implicate MEIS1 in conferring sleep abnormalities and impaired cerebellar development

The paper identifies MEIS1 as a gene involved in sleep abnormalities and cerebellar development using cross-species variant-to-function analyses in zebrafish.

Cell-specific variant-to-gene mapping identifies conserved neural and glial regulators of sleep

The paper identifies cell-type-specific genes regulating sleep by mapping GWAS variants to effector genes in human and Drosophila models, revealing ruby/AP3B2 as a conserved glial regulator.

Cross-species evidence for a developmental origin of adult hypersomnia with loss of synaptic adhesion molecules beat-Ia/CADM2

The paper identifies beat-Ia/CADM2 as a gene involved in hypersomnia by showing its role in sleep regulation across species and demonstrates potential therapeutic targets.

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

Glucose Challenge Uncovers Temporal Fungibility of Metabolic Homeostasis over a day:night cycle

This study uses isotope tracing to show rhythmic glucose metabolism in Drosophila, revealing internal mechanisms controlling metabolic homeostasis across day and night.

Perturbation of the insomnia WDR90 GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q

This study identifies rs3752495 as the causal variant at the insomnia WDR90 GWAS locus that influences PIG-Q expression through a regulatory mechanism.

Variant-to-gene-mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as novel regulator of sleep

The paper identifies GPI-anchor biosynthesis as a conserved regulator of sleep through variant-to-gene mapping and cross-species genetic screening in humans and model organisms.

Zebrafish screen of high-confidence effector genes at insomnia GWAS loci implicates conserved regulators of sleep-wake behaviors

The paper identifies conserved genes at insomnia GWAS loci using zebrafish CRISPR screens and chromatin interaction data, finding that MEIS1 and SKIV2L mutations produce insomnia-like behaviors.

High-resolution QTL mapping with Diversity Outbred mice identifies genetic variants that impact gut microbiome composition

This study uses 16S rRNA gene sequencing in Diversity Outbred mice to identify genetic variants affecting gut microbiome composition, finding significant heritability and novel QTLs related to immune and metabolic pathways.

Characterization of Genetic and Phenotypic Heterogeneity of Obstructive Sleep Apnea Using Electronic Health Records

The paper identifies genetic variants associated with obstructive sleep apnea using electronic health records and links them to comorbidities.

Calculating the Effects of Autism Risk Gene Variants on Dysfunction of Biological Processes Identifies Clinically-Useful Information

The paper identifies clinically relevant genetic dysfunction in ASD risk genes by analyzing whole-exome data from 2,381 individuals, finding associations between specific variants and cognitive symptoms.