Area of research
Cellular and Molecular Neuroscience · Genetics
Research interest
Research interests include Biology, Genetics, Exome sequencing, Phenotype, Microcephaly, and Gene.
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms
Talin1 dysfunction is genetically linked to systemic capillary leak syndrome
A recurrent de novo variant in <scp> <i>NUSAP1</i> </scp> escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs
Infantile SOD1 deficiency syndrome caused by a homozygous <i>SOD1</i> variant with absence of enzyme activity
Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencing
Biallelic deletion in a minimal <scp> <i>CAPN15</i> </scp> intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients