Nicholas A. Borja

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer

D. Parekh, D. Sussman, Marilyn Huang, 2023, Frontiers in Oncology.

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

Shengru Guo, G. Bademci, M. Tekin, 2023, American journal of medical genetics. Part A.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Shengru Guo, G. Bademci, H. Moore, 2022, Molecular genetics & genomic medicine.

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome

G. Bademci, M. F. Zafeer, M. Tekin, 2023, American journal of medical genetics. Part A.