Joseph Liu

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Nature Genetics · 2023-01-12 · 109 citations

Predominantly Persistent Intraretinal Fluid in the Comparison of Age-related Macular Degeneration Treatments Trials

Ophthalmology Retina · 2022 · 22 citations

Molecular regulation of brain metabolism underlying circadian epilepsy

Epilepsia · 2021-01-04 · 20 citations

Extensive study has demonstrated that epilepsy occurs with greater frequency at certain times in the 24-h cycle. Although these findings implicate an overlap between the circadian rhythm and epilepsy, the molecular and cellular mechanisms underlying this circadian regulation are poorly understood. Because the 24-h rhythm is generated by the circadian molecular system, it is not surprising that this system comprised of many circadian genes is implicated in epilepsy. We summarized evidence in the…

Longitudinal MRI findings in patient with <i>SLC25A12</i> pathogenic variants inform disease progression and classification

American Journal of Medical Genetics Part A · 2019-08-12 · 19 citations

Aspartate-glutamate carrier 1 (AGC1) is one of two exchangers within the malate-aspartate shuttle. AGC1 is encoded by the SLC25A12 gene. Three patients with pathogenic variants in SLC25A12 have been reported in the literature. These patients were clinically characterized by neurodevelopmental delay, epilepsy, hypotonia, cerebral atrophy, and hypomyelination; however, there has been discussion in the literature as to whether this hypomyelination is primary or secondary to a neuronal defect. Here…

Complex Neurological Phenotype in Female Carriers of &lt;b&gt;&lt;i&gt;NHE6&lt;/i&gt;&lt;/b&gt; Mutations

Complex Psychiatry · 2019-01-01 · 16 citations

Mutations in &lt;i&gt;NHE6&lt;/i&gt; (also termed &lt;i&gt;SLC9A6&lt;/i&gt;) cause the X-linked neurological disorder Christianson syndrome (CS) in males. The purpose of this study was to examine the phenotypic spectrum of female carriers of &lt;i&gt;NHE6&lt;/i&gt; mutations. Twenty female carriers from 9 pedigrees were enrolled, ranging from approximately age 2 to 65. A subset of female carriers was assessed using standardized neuropsychological measures. Also, the association of &lt;i&gt;NHE6&…