Hsiao-Tuan Chao

Distinct domains of complexin I differentially regulate neurotransmitter release.

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number.

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.

Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.

The yin and yang of MeCP2 phosphorylation.

Math1 is essential for the development of hindbrain neurons critical for perinatal breathing.

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.

Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity.

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

Etiology of a genetically complex seizure disorder in Celf4 mutant mice.

Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome.

Investigation of synapse formation and function in a glutamatergic-GABAergic two-neuron microcircuit.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Building dialogues between clinical and biomedical research through cross-species collaborations.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.