Kristen N Lee

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

H. Onay, B. Akıncı, E. Oral, 2020, Clinical Diabetes and Endocrinology.

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Donna M. Martin, Ayesha Ahmad, M. Hannibal, 2019, Pediatric Research.

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

W. Uhlmann, Shane C. Quinonez, Kristen N. Lee, 2020, Molecular genetics and metabolism reports.