Tomohiro Sakaguchi

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum

N. Matsumoto, N. Miyake, Tomohiro Sakaguchi, 2018, Human Genome Variation.

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Long Guo, A. Takata, C. Kim, 2020, Human mutation.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities

N. Matsumoto, N. Miyake, M. Nakashima, 2018, Journal of Human Genetics.

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype

N. Matsumoto, N. Miyake, N. Okamoto, 2021, Brain and Development.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities

N. Matsumoto, N. Miyake, M. Nakashima, 2018, Journal of Human Genetics.