Katherine Cobian

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14

V. Lindgren, Gifty Bhat, Katherine Cobian, 2021, American journal of medical genetics. Part A.