Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly
to autism spectrum disorders (ASDs) but have been primarily investigated in European …

Mutations in genes encoding both DJ-1 and pten-induced kinase 1 (PINK1) are independently
linked to autosomal recessive early-onset familial forms of Parkinson's disease (PD). We …

This study aimed to determine the mutational spectrum of familial Parkinson’s disease and
sporadic early-onset Parkinson’s disease (sEOPD) in a mainland Chinese population and the …

Background We previously performed targeted sequencing of autism risk genes in probands
from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we …

Background High myopia, with the characteristic feature of refractive error, is one of the leading
causes of blindness worldwide. It has a high heritability, but only a few causative genes …

Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are
characterized by complex clinical and genetic heterogeneity. Although more than 20 …

Autism spectrum disorder (ASD) represents a set of complex neurodevelopmental disorders
with large degrees of heritability and heterogeneity. We sequenced 136 microcephaly or …

Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We
report a new neurodevelopmental disorder (NDD) with common features of language …

Background More than 50 loci are associated with spinocerebellar ataxia (SCA), and the
most frequent subtypes share nucleotide repeats expansion, especially CAG expansion. …

Purpose: High myopia is one of the leading causes of blindness worldwide, with high heritability.
However, only a few causative genes have been identified, and the pathogenesis is still …