Kim C. Worley

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

G. Carvill, H. Mefford, S. Berkovic, 2023, medRxiv.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects

Lauren S Blieden, S. Lalani, B. Mandriani, 2024, medRxiv.