Naomichi Matsumoto

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

N. Miyake, Y. Tsurusaki, Mitsuhiro Kato, 2012, Clinical genetics.

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum

N. Matsumoto, S. Kanai, T. Okanishi, 2018, Clinical genetics.

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

Y. Wada, N. Matsumoto, S. Saitoh, 2015, Clinical genetics.

Familial Simpson–Golabi–Behmel syndrome: studies of X‐chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

N. Matsumoto, K. Moseley, Y. Watanabe, 2011, Clinical genetics.

A PLK4 mutation causing azoospermia in a man with Sertoli cell‐only syndrome

N. Matsumoto, M. Shiina, K. Ogata, 2016, Andrology.

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

R. Maroofian, H. Houlden, S. Miyatake, 2023, medRxiv.

Developmental dysplasia of the hip

K. Lohmann, J. Schulzke, Peter L. M. Jansen, 2009, BMJ : British Medical Journal.

Detection of copy number variations in epilepsy using exome data

A. Fattal-Valevski, A. Takata, M. Kubota, 2018, Clinical genetics.