Naomichi Matsumoto

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

The paper benchmarks difficult-to-sequence regions in the human exome using machine learning and real-world NGS data from gnomAD to improve clinical sequencing accuracy.

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

Limb-clasping, cognitive deficit and increased vulnerability to kainic acid -induced seizures in neuronal GPI anchor deficiency mouse models

This study generates PIGA-deficient mouse models to investigate the role of GPI anchor deficiency in neurological phenotypes and seizure susceptibility.

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population

The paper surveys tandem repeats in 16 humans using nanopore sequencing and finds disease-associated repeats are more polymorphic in the general population.

A method for complete characterization of complex germline rearrangements from long DNA reads

This paper introduces a method to fully characterize complex germline rearrangements using long DNA reads, demonstrating its ability to reconstruct intricate chromosomal translocations.

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

Regulation of human development by ubiquitin chain editing of chromatin remodelers

This study identifies OTUD5 as essential for chromatin remodeling during development, showing its role in preventing degradation of chromatin regulators and maintaining proper gene expression networks.

Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease

The paper identifies a GGC repeat expansion in the NOTCH2NLC gene using long-read sequencing, linking it to neuronal intranuclear inclusion disease in both familial and sporadic cases.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.

Robust detection of tandem repeat expansions from long DNA reads

This paper develops a method to detect tandem repeat expansions from long DNA reads, identifying pathological expansions by comparing to healthy controls.

Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila

The paper identifies SMARCD1 mutations as a cause of intellectual disability and shows its role in regulating neuronal gene expression during development in Drosophila.