Hillary M. Porter

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

J. Rosenfeld, Hyung-Goo Kim, T. Haaf, 2022, Human mutation.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.