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

অনুযায়ী Takata, Atsushi, Matsumoto, Naomichi, Kato, Tadafumi
প্রকাশিত Nat Commun (2017)

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

অনুযায়ী Mitsuhashi, Satomi, Frith, Martin C., Matsumoto, Naomichi
প্রকাশিত BMC Med Genomics (2021)

Stereotypic Hand Movements in β‐Propeller Protein‐Associated Neurodegeneration: First Video Report

অনুযায়ী Uchino, Shumpei, Saitsu, Hirotomo, Kumada, Satoko, Nakata, Yasuhiro, Matsumoto, Naomichi
প্রকাশিত Mov Disord Clin Pract (2015)

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

অনুযায়ী Mitsuhashi, Satomi, Ohori, Sachiko, Katoh, Kazutaka, Frith, Martin C., Matsumoto, Naomichi
প্রকাশিত Genome Med (2020)

TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia

অনুযায়ী Komatsu, Yumiko, Suzuki, Toshifumi, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yan, Kunimasa
প্রকাশিত CEN Case Rep (2016)

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease

অনুযায়ী Nakamura, Yuji, Kato, Kohji, Tsuchida, Naomi, Matsumoto, Naomichi, Takahashi, Yoshiyuki, Saitoh, Shinji
প্রকাশিত PLoS One (2019)

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

অনুযায়ী Sakai, Haruya, Yoshida, Kunihiro, Shimizu, Yusaku, Morita, Hiroshi, Ikeda, Shu-ichi, Matsumoto, Naomichi
প্রকাশিত 2010

West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother

অনুযায়ী Chong, Pin Fee, Matsukura, Masaru, Fukui, Kaoru, Watanabe, Yoriko, Matsumoto, Naomichi, Kira, Ryutaro
প্রকাশিত Front Pediatr (2019)

Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

অনুযায়ী Visser, Remco, Shimokawa, Osamu, Harada, Naoki, Kinoshita, Akira, Ohta, Tohru, Niikawa, Norio, Matsumoto, Naomichi
প্রকাশিত 2005

Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome

অনুযায়ী Miyoshi, Yoko, Taniike, Masako, Mohri, Ikuko, Mushiake, Sotaro, Nakajima, Shigeo, Matsumoto, Naomichi, Ozono, Keiichi
প্রকাশিত 2004

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

অনুযায়ী Yahikozawa, Hiroyuki, Yoshida, Kunihiro, Sato, Shunichi, Hanyu, Norinao, Doi, Hiroshi, Miyatake, Satoko, Matsumoto, Naomichi
প্রকাশিত Hum Genome Var (2015)

The first genetically confirmed Japanese patient with mucolipidosis type IV

অনুযায়ী Saijo, Harumi, Hayashi, Masaharu, Ezoe, Takanori, Ohba, Chihiro, Saitsu, Hirotomo, Kurata, Kiyoko, Matsumoto, Naomichi
প্রকাশিত Clin Case Rep (2016)

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation

অনুযায়ী Okamoto, Nobuhiko, Tsuchiya, Yuki, Kuki, Ichiro, Yamamoto, Toshiyuki, Saitsu, Hirotomo, Kitagawa, Daiju, Matsumoto, Naomichi
প্রকাশিত Mol Genet Genomic Med (2017)

A novel 8-bp duplication in ADAT3 causes mild intellectual disability

অনুযায়ী Salehi Chaleshtori, Ahmad Reza, Miyake, Noriko, Ahmadvand, Mohammad, Bashti, Oranous, Matsumoto, Naomichi, Noruzinia, Mehrdad
প্রকাশিত Hum Genome Var (2018)

Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report

অনুযায়ী Ogasawara, Masashi, Nakagawa, Eiji, Takeshita, Eri, Hamanaka, Kohei, Miyatake, Satoko, Matsumoto, Naomichi, Sasaki, Masayuki
প্রকাশিত Mol Syndromol (2020)

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

অনুযায়ী Akaba, Yuichi, Takahashi, Satoru, Takeguchi, Ryo, Tanaka, Ryosuke, Nabatame, Shin, Saitsu, Hirotomo, Matsumoto, Naomichi
প্রকাশিত Clin Case Rep (2021)

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

অনুযায়ী Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
প্রকাশিত 2013

Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN)

অনুযায়ী Ichinose, Yuta, Miwa, Michiaki, Onohara, Akiko, Obi, Kimiko, Shindo, Kazumasa, Saitsu, Hirotomo, Matsumoto, Naomichi, Takiyama, Yoshihisa
প্রকাশিত 2014

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

অনুযায়ী Ozawa, Tadashi, Koide, Reiji, Nakata, Yasuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Takahashi, Kazushi, Nakano, Imaharu, Orimo, Satoshi
প্রকাশিত Am J Med Genet A (2014)

‘Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

অনুযায়ী Yoshida, Kunihiro, Miyatake, Satoko, Kinoshita, Tomomi, Doi, Hiroshi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
প্রকাশিত J Hum Genet (2014)