Massively parallel in vivo Perturb-seq screening
Advances in genomics have identified thousands of risk genes impacting human health and diseases, but the functions of these genes and their mechan…
Tag: Genetics of the nervous system
Astrocyte heterogeneity reveals region-specific astrogenesis in the white matter
Astrocyte heterogeneity has been well explored, but our understanding of white matter (WM) astrocytes and their distinctions from gray matter (GM) …
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a group of extremely rare autosomal recessive neurological disorders characterized by…
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, inclu…
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two n…
A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication
We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was id…