Kazuhiko Nakabayashi

The paper investigates the regulation of maternal allele bias in Copg2 during neurogenesis, showing it involves a two-step mechanism beyond MestXL-mediated interference.

This paper identifies a paternal sub-TAD and shared enhancer that regulate Klf14 genomic imprinting in mice, revealing a mechanism involving Mest and allele-specific CTCF binding.

The paper develops a method to efficiently reactivate XIST in female hPSCs by inhibiting TP53 and DNA methylation during Cas9-mediated genome editing.

The paper shows that an ancestral LTR retrotransposon insertion in the common ancestor of Euarchontoglires drives lineage-specific genomic imprinting of ZDBF2 through post-fertilization transcription initiation.

The paper uses G&T-seq to isolate fetal nucleated red blood cells (fNRBCs) from cord blood and assesses their genomic integrity for noninvasive prenatal testing.

The paper investigates allele-specific enhancer-promoter interactions in an imprinted domain during mouse neural commitment, finding that biallelic interactions occur but only maternal ones are productive.

This study improves diagnostic yield in fetal structural anomalies using whole exome sequencing by re-evaluating variants, including introns, with LOEUF scores, particularly for X-linked disorders.

The paper identifies DNA methylation signatures associated with NSD2 loss-of-function variants and shows their similarity to those in Wolf-Hirschhorn syndrome.

The paper identifies SHOX as a sex-biased gene with random monoallelic expression contributing to sex differences in height.

The paper shows that lineage-specific retroviral promoters drive the evolution of maternal imprinting by establishing DNA methylation at imprinted genes in mice and humans.