Jennifer Guo

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

J. Mullikin, C. Toro, W. Gahl, 2015, Journal of Medical Genetics.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

J. Mullikin, C. Toro, W. Gahl, 2016, Journal of Medical Genetics.

TMEM231 Gene Conversion Associated with Joubert and Meckel–Gruber Syndromes in the Same Family

W. Gahl, M. Gunay‐Aygun, J. Stephen, 2016, Human mutation.

Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination

W. Seeley, Tuancheng Feng, Fenghua Hu, 2023, Acta Neuropathologica.

TMEM106B regulates microglial proliferation and survival in response to demyelination

W. Seeley, Tuancheng Feng, Fenghua Hu, 2023, Science advances.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

Robert W. Taylor, D. Wallace, C. Toro, 2018, Human mutation.