Yanick Joseph Crow

This study identifies ATRX deficiency as a driver of aberrant type I interferon signaling via cGAS-dependent transcriptional dysregulation in patients with cerebral white matter disease.

This study shows NAP1 switches from enhancing to limiting TBK1 activity through condensate formation, affecting IFN induction and linking to interferonopathies.

This study shows that MTPAP loss causes mitochondrial RNA processing defects, leading to type I interferon signaling upregulation through mt-dsRNA accumulation.

The paper identifies molecular domains in the U8 snoRNA affected by LCC mutations and shows how U8 function impacts stability through a post-transcriptional mechanism.

This study shows that TREX1 mutations in the polyproline motif destabilize the protein, leading to excessive cGAS-STING signaling and autoimmune disease.

This study identifies ARF1 as a negative regulator of cGAS-STING signaling, showing it prevents type I IFN induction by regulating STING activation and recycling.

The paper maps RNA homodimers in living cells using proximity ligation methods, revealing their rarity across the transcriptome and enrichment in specific RNAs and viral genomes.

The paper identifies a novel base-pairing interaction in the U8 snoRNA that underlies a Mendelian form of cerebral small vessel disease by analyzing zebrafish models and patient fibroblasts.

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.