Kelly Schoch

Domain specific phenotypic expansion associated with variants in MACF1

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

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.