Area of research
Reproductive Medicine · Molecular Biology
Research interest
Research interests include Biology, Genetics, Medicine, Epigenetics, Somatic cell, and Transcriptome.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty
Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer
The dynamic transcriptional cell atlas of testis development during human puberty
The adult human testis transcriptional cell atlas
Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development
Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies