Naomichi Matsumoto

发表

A message for 2018

Naomichi Matsumoto, 2018, Journal of Human Genetics.

A message for 2019

Naomichi Matsumoto, 2019, Journal of Human Genetics.

A message for 2020

Naomichi Matsumoto, 2020, Journal of Human Genetics.

A 230 K gates/5 ns RAM BiCMOS ASIC with optimized bipolar arrays

A. Denda, Naomichi Matsumoto, M. Wakabayashi, 1994 .

A message for 2015

Naomichi Matsumoto, 2015, Journal of Human Genetics.

A message for 2016

Naomichi Matsumoto, 2016, Journal of Human Genetics.

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Fumiaki Tanaka, Hiroshi Doi, Martin C Frith, 2019, Nature Genetics.

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan

Naomichi Matsumoto, Kunihiro Yoshida, Shinji Ohara, 2009, The Cerebellum.

Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation.

Naomichi Matsumoto, Naoki Osato, Keiko Ozato, 2013, Blood.

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Naomichi Matsumoto, Stéphane Bézieau, N. Matsumoto, 2016, Journal of Human Genetics.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Naomichi Matsumoto, Masaya Kubota, Mitsuhiro Kato, 2013, American journal of human genetics.

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

Naomichi Matsumoto, Satoru Takeda, N. Matsumoto, 2014, Journal of Human Genetics.

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

Martin C. Frith, Kazutaka Katoh, Naomichi Matsumoto, 2020, Genome Medicine.

Heterozygous TGFBR2 mutations in Marfan syndrome

Yusuke Nakamura, Naomichi Matsumoto, Mathilde Varret, 2004, Nature Genetics.

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.

Naomichi Matsumoto, Naoki Harada, Tohru Ohta, 2005, American journal of human genetics.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Naomichi Matsumoto, Nobuhiko Okamoto, Yukifumi Monden, 2015, European Journal of Human Genetics.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

Makoto Nakamura, Paola Benaglio, Shinji Ueno, 2013, Proceedings of the National Academy of Sciences.

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Naomichi Matsumoto, Kenji Kurosawa, Yoshio Makita, 2006, American journal of medical genetics. Part A.

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Naomichi Matsumoto, Mitsuhiro Kato, Hitoshi Osaka, 2008, Nature Genetics.

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

Kengo Kinoshita, Masao Nagasaki, Katsushi Tokunaga, 2019, Journal of Human Genetics.

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan

Naomichi Matsumoto, Kunihiro Yoshida, Shu-ichi Ikeda, 2010, neurogenetics.

Long-read sequencing for rare human genetic diseases

Naomichi Matsumoto, N. Matsumoto, S. Mitsuhashi, 2019, Journal of Human Genetics.

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Jan-Fang Cheng, Naomichi Matsumoto, Kenji Kurosawa, 2003, Human mutation.

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Naomichi Matsumoto, Mitsuhiro Kato, N. Matsumoto, 2015, Scientific Reports.

Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci

Atsushi Takata, Naomichi Matsumoto, A. Takata, 2017, Nature Communications.

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Martin C. Frith, Naomichi Matsumoto, Yoshihiro Kino, 2019, Genome Biology.

De novo GABRA1 mutations in Ohtahara and West syndromes

Naomichi Matsumoto, Mitsuhiro Kato, Akihiko Ishiyama, 2016, Epilepsia.