Amelia Diplock

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

A. Hardan, C. Eng, M. Sahin, 2022, Human molecular genetics.

Clinical and genetic characterization of AP4B1‐associated SPG47

W. Chung, M. Sahin, B. Lanpher, 2018, American journal of medical genetics. Part A.

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome

N. Hauser, S. Srivastava, J. Niederhuber, 2019, Neuropediatrics.

Clinical and Genetic Characterization of AP 4 B 1-associated SPG 47

W. Chung, J. Hirst, C. Ryan, 2017 .