Fei Gao

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

P. Chinnery, H. Lochmüller, R. Horvath, 2021, Brain : a journal of neurology.

Paternal USP 26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans

Xiuge Wang, Chao Liu, Mengjing Li, 2021 .

Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’

R. Horvath, M. Jennings, Zhiyuan Lin, 2021, Journal of neuromuscular diseases.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Neuromuscular disease genetics in under-represented populations: increasing data diversity

K. Thangaraj, P. Chinnery, S. Efthymiou, 2023, Brain : a journal of neurology.