Works by Matsumoto, Naomichi

Results: 320

Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.

Published in:

2017

By:

Jiro Kino;
Hiroyasu Tsukaguchi;
Takahisa Kimata;
Huan Thanh Nguyen;
Yorika Nakano;
Noriko Miyake;
Naomichi Matsumoto;
Kazunari Kaneko;
Kino, Jiro;
Tsukaguchi, Hiroyasu;
Kimata, Takahisa;
Nguyen, Huan Thanh;
Nakano, Yorika;
Miyake, Noriko;
Matsumoto, Naomichi;
Kaneko, Kazunari

Publication type:

journal article

A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.

Published in:

Cerebellum, 2018, v. 17, n. 5, p. 525, doi. 10.1007/s12311-018-0941-6

By:

Yahikozawa, Hiroyuki;
Miyatake, Satoko;
Sakai, Toshiaki;
Uehara, Takeshi;
Yamada, Mitsunori;
Hanyu, Norinao;
Futatsugi, Yasuhiro;
Doi, Hiroshi;
Koyano, Shigeru;
Tanaka, Fumiaki;
Suzuki, Atsushi;
Matsumoto, Naomichi;
Yoshida, Kunihiro

Publication type:

Article

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

Published in:

Cerebellum, 2009, v. 8, n. 1, p. 46, doi. 10.1007/s12311-008-0062-8

By:

Yoshida, Kunihiro;
Shimizu, Yusaku;
Morita, Hiroshi;
Okano, Tomomi;
Sakai, Haruya;
Ohata, Takako;
Matsumoto, Naomichi;
Nakamura, Katsuya;
Tazawa, Ko-ichi;
Ohara, Shinji;
Tabata, Kenichi;
Inoue, Atsushi;
Sato, Shunichi;
Shimojima, Yasuhiro;
Hattori, Takeshi;
Ushiyama, Masao;
Ikeda, Shu-ichi

Publication type:

Article

Novel Electrophysiologic Parameter of Dispersion of Atrial Repolarization: Comparison of Different Atrial Pacing Methods.

Published in:

Journal of Cardiovascular Electrophysiology, 2002, v. 13, n. 2, p. 110, doi. 10.1046/j.1540-8167.2002.00110.x

By:

Ogawa, Masahiro;
Kumagai, Koichiro;
Gondo, Naoki;
Matsumoto, Naomichi;
Suyama, Kazuhiro;
Saku, Keijiro

Publication type:

Article

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep07132

By:

Hiroshi Doi;
Masao Ushiyama;
Takashi Baba;
Katsuko Tani;
Masaaki Shiina;
Kazuhiro Ogata;
Satoko Miyatake;
Yoko Fukuda-Yuzawa;
Shoji Tsuji;
Mitsuko Nakashima;
Yoshinori Tsurusaki;
Noriko Miyake;
Hirotomo Saitsu;
Shu-ichi Ikeda;
Fumiaki Tanaka;
Naomichi Matsumoto;
Kunihiro Yoshida

Publication type:

Article

Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply.

Published in:

Rheumatology, 2024, v. 63, n. 8, p. e229, doi. 10.1093/rheumatology/kead626

By:

Tsuchida, Naomi;
Uchiyama, Yuri;
Maeda, Ayaka;
Horita, Nobuyuki;
Kirino, Yohei;
Matsumoto, Naomichi

Publication type:

Article

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

Published in:

Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1667-6

By:

Mitsuhashi, Satomi;
Frith, Martin C.;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Toyota, Tomoko;
Adachi, Hiroaki;
Oma, Yoko;
Kino, Yoshihiro;
Mitsuhashi, Hiroaki;
Matsumoto, Naomichi

Publication type:

Article

Long‐term clinical observation of patients with heterozygous KIF1A variants.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63656

By:

Kawashima, Aritomo;
Kodama, Kaori;
Okubo, Yukimune;
Endo, Wakaba;
Inui, Takehiko;
Ikeda, Miki;
Katata, Yu;
Togashi, Noriko;
Ohba, Chihiro;
Imagawa, Eri;
Iwama, Kazuhiro;
Mizuguchi, Takeshi;
Kitami, Masahiro;
Aihara, Yu;
Takayama, Jun;
Tamiya, Gen;
Kikuchi, Atsuo;
Kure, Shigeo;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 268, doi. 10.1002/ajmg.a.63424

By:

Nishi, Eriko;
Miyake, Noriko;
Kawamura, Rie;
Hosoki, Kana;
Hasegawa, Yuiko;
Matsumoto, Naomichi;
Okamoto, Nobuhiko

Publication type:

Article

High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.

Published in:

Breast Cancer (13406868), 2024, v. 31, n. 6, p. 1028, doi. 10.1007/s12282-024-01615-0

By:

Yoshida, Reiko;
Kaneyasu, Tomoko;
Ueki, Arisa;
Yamauchi, Hideko;
Ohsumi, Shozo;
Ohno, Shinji;
Aoki, Daisuke;
Baba, Shinichi;
Kawano, Junko;
Matsumoto, Naomichi;
Nagasaki, Masao;
Ueno, Takayuki;
Inari, Hitoshi;
Kobayashi, Yusuke;
Takei, Junko;
Gotoh, Osamu;
Nishi, Mitsuyo;
Okamura, Miki;
Kaneko, Keika;
Okawa, Megumi

Publication type:

Article

A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.

Published in:

International Journal of Hematology, 2024, v. 119, n. 5, p. 603, doi. 10.1007/s12185-024-03751-x

By:

Ohashi, Takuma;
Kunimoto, Hiroyoshi;
Nukui, Jun;
Teshigawara, Haruka;
Koyama, Satoshi;
Miyazaki, Takuya;
Hagihara, Maki;
Matsumoto, Kenji;
Koshimizu, Eriko;
Tsuchida, Naomi;
Hamanoue, Haruka;
Miyatake, Satoko;
Yachie, Akihiro;
Matsumoto, Naomichi;
Nakajima, Hideaki

Publication type:

Article

Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.

Published in:

International Journal of Hematology, 2023, v. 118, n. 4, p. 494, doi. 10.1007/s12185-023-03598-8

By:

Kunimoto, Hiroyoshi;
Miura, Ayaka;
Maeda, Ayaka;
Tsuchida, Naomi;
Uchiyama, Yuri;
Kunishita, Yosuke;
Nakajima, Yuki;
Takase-Minegishi, Kaoru;
Yoshimi, Ryusuke;
Miyazaki, Takuya;
Hagihara, Maki;
Yamazaki, Etsuko;
Kirino, Yohei;
Matsumoto, Naomichi;
Nakajima, Hideaki

Publication type:

Article

VEXAS syndrome.

Published in:

2022

By:

Uchino, Kaori;
Kanasugi, Jo;
Enomoto, Megumi;
Kitamura, Fumiya;
Tsuchida, Naomi;
Uchiyama, Yuri;
Maeda, Ayaka;
Kirino, Yohei;
Matsumoto, Naomichi;
Takami, Akiyoshi

Publication type:

Letter

Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency.

Published in:

2018

By:

Ogawa, Yoshiyuki;
Yanagisawa, Kunio;
Uchiyama, Yuri;
Akashi, Naoki;
Mieda, Tokue;
Iizuka, Haku;
Inoue, Madoka;
Shizuka, Reiko;
Murakami, Masami;
Matsumoto, Naomichi;
Handa, Hiroshi

Publication type:

journal article

Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy.

Published in:

International Journal of Hematology, 2017, v. 105, n. 2, p. 221, doi. 10.1007/s12185-016-2096-x

By:

Ogawa, Yoshiyuki;
Kunishima, Shinji;
Yanagisawa, Kunio;
Osaki, Yohei;
Uchiyama, Yuri;
Matsumoto, Naomichi;
Tokiniwa, Hideaki;
Horiguchi, Jun;
Nojima, Yoshihisa;
Handa, Hiroshi

Publication type:

Article

Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy.

Published in:

2016

By:

Ogawa, Yoshiyuki;
Kunishima, Shinji;
Yanagisawa, Kunio;
Osaki, Yohei;
Uchiyama, Yuri;
Matsumoto, Naomichi;
Tokiniwa, Hideaki;
Horiguchi, Jun;
Nojima, Yoshihisa;
Handa, Hiroshi

Publication type:

journal article

Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.

Published in:

Journal of Orthopaedic Research, 2017, v. 35, n. 4, p. 768, doi. 10.1002/jor.23300

By:

Sakamoto, Yuma;
Yamamoto, Takuaki;
Miyake, Noriko;
Matsumoto, Naomichi;
Iida, Aritoshi;
Nakashima, Yasuharu;
Iwamoto, Yukihide;
Ikegawa, Shiro

Publication type:

Article

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 1, p. 111, doi. 10.1111/dmcn.14666

By:

Sasaki, Masayuki;
Sumitomo, Noriko;
Shimizu‐Motohashi, Yuko;
Takeshita, Eri;
Kurosawa, Kenji;
Kosaki, Kenjiro;
Iwama, Kazuhiro;
Mizuguchi, Takeshi;
Matsumoto, Naomichi

Publication type:

Article

GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons.

Published in:

FASEB Journal, 2020, v. 34, n. 12, p. 16601, doi. 10.1096/fj.202001113R

By:

Akamine, Satoshi;
Okuzono, Sayaka;
Yamamoto, Hiroyuki;
Setoyama, Daiki;
Sagata, Noriaki;
Ohgidani, Masahiro;
Kato, Takahiro A.;
Ishitani, Tohru;
Kato, Hiroki;
Masuda, Keiji;
Matsushita, Yuki;
Ono, Hiroaki;
Ishizaki, Yoshito;
Sanefuji, Masafumi;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Kang, Dongchon;
Kanba, Shigenobu;
Nakabeppu, Yusaku;
Sakai, Yasunari

Publication type:

Article

Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 4, p. e81, doi. 10.1111/epi.13338

By:

Yamashita, Satoshi;
Chiyonobu, Tomohiro;
Yoshida, Michiko;
Maeda, Hiroshi;
Zuiki, Masashi;
Kidowaki, Satoshi;
Isoda, Kenichi;
Morimoto, Masafumi;
Kato, Mitsuhiro;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Nakahata, Tatsutoshi;
Saito, Megumu K.;
Hosoi, Hajime

Publication type:

Article

De novo DNM1 mutations in two cases of epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 1, p. e18, doi. 10.1111/epi.13257

By:

Nakashima, Mitsuko;
Kouga, Takeshi;
Lourenço, Charles Marques;
Shiina, Masaaki;
Goto, Tomohide;
Tsurusaki, Yoshinori;
Miyatake, Satoko;
Miyake, Noriko;
Saitsu, Hirotomo;
Ogata, Kazuhiro;
Osaka, Hitoshi;
Matsumoto, Naomichi

Publication type:

Article

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 3, p. e22, doi. 10.1111/epi.12533

By:

Leventer, Richard J.;
Jansen, Floor E.;
Mandelstam, Simone A.;
Ho, Alice;
Mohamed, Ismail;
Sarnat, Harvey B.;
Kato, Mitsuhiro;
Fukasawa, Tatsuya;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Itoh, Masayuki;
Kalnins, Renate M.;
Chow, Chung W.;
Harvey, A. Simon;
Jackson, Graeme D.;
Crino, Peter B.;
Berkovic, Samuel F.;
Scheffer, Ingrid E.

Publication type:

Article

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 2, p. e13, doi. 10.1111/epi.12508

By:

Nakamura, Kazuyuki;
Osaka, Hitoshi;
Murakami, Yoshiko;
Anzai, Rie;
Nishiyama, Kiyomi;
Kodera, Hirofumi;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Kinoshita, Taroh;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1441, doi. 10.1111/j.1528-1167.2012.03548.x

By:

Saitsu, Hirotomo;
Kato, Mitsuhiro;
Osaka, Hitoshi;
Moriyama, Nobuko;
Horita, Hideki;
Nishiyama, Kiyomi;
Yoneda, Yuriko;
Kondo, Yukiko;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Miyake, Noriko;
Hayasaka, Kiyoshi;
Matsumoto, Naomichi

Publication type:

Article

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 6, p. e106, doi. 10.1111/j.1528-1167.2012.03437.x

By:

Writzl, Karin;
Primec, Zvonka Rener;
Stražišar, Barbara Gnidovec;
Osredkar, Damjan;
Pečarič-Meglič, Nuška;
Kranjc, Branka Stirn;
Nishiyama, Kiyomi;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

Haploinsufficiency of STXBP1 and Ohtahara syndrome.

Published in:

Epilepsia (Series 4), 2010, v. 51, p. 71, doi. 10.1111/j.1528-1167.2010.02857.x

By:

Saitsu, Hirotomo;
Kato, Mitsuhiro;
Matsumoto, Naomichi

Publication type:

Article

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.

Published in:

BMC Genetics, 2002, v. 3, p. 1

By:

Engle, Elizabeth C.;
McIntosh, Nathalie;
Yamada, Koki;
Lee, Bjorn A.;
Johnson, Roger;
O'Keefe, Michael;
Letson, Robert;
London, Arnold;
Ballard, Evan;
Ruttum, Mark;
Matsumoto, Naomichi;
Saito, Nakamichi;
Collins, Mary Louise Z.;
Morris, Lisa;
Del Monte, Monte;
Magli, Adriano;
De Berardinis, Teresa

Publication type:

Article

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Published in:

2018

By:

Miyatake, Satoko;
Koshimizu, Eriko;
Shirai, Ikuko;
Kumada, Satoko;
Nakata, Yasuhiro;
Kamemaru, Aiko;
Nakashima, Mitsuko;
Mizuguchi, Takeshi;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Case Study

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Published in:

Movement Disorders, 2013, v. 28, n. 4, p. 552, doi. 10.1002/mds.25296

By:

Higashiyama, Yuichi;
Doi, Hiroshi;
Wakabayashi, Masatoshi;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Ohba, Chihiro;
Fukai, Ryoko;
Miyatake, Satoko;
Joki, Hideto;
Koyano, Shigeru;
Suzuki, Yume;
Tanaka, Fumiaki;
Kuroiwa, Yoshiyuki;
Matsumoto, Naomichi

Publication type:

Article

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.

Published in:

Movement Disorders, 2010, v. 25, n. 13, p. 2265, doi. 10.1002/mds.23164

By:

Kanazawa, Kyoko;
Kumada, Satoko;
Kato, Mitsuhiro;
Saitsu, Hirotomo;
Kurihara, Eiji;
Matsumoto, Naomichi

Publication type:

Article

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia.

Published in:

JAMA Neurology, 2015, v. 72, n. 7, p. 797, doi. 10.1001/jamaneurol.2015.0610

By:

Kokoro Ozaki;
Hiroshi Doi;
Jun Mitsui;
Nozomu Sato;
Yoichiro Iikuni;
Takamasa Majima;
Kiyomi Yamane;
Takashi Irioka;
Hiroyuki Ishiura;
Koichiro Doi;
Shinichi Morishita;
Miwa Higashi;
Teruhiko Sekiguchi;
Kazuo Koyama;
Naohisa Ueda;
Yoshiharu Miura;
Satoko Miyatake;
Naomichi Matsumoto;
Takanori Yokota;
Fumiaki Tanaka

Publication type:

Article

Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.

Published in:

Pathology International, 2017, v. 67, n. 11, p. 585, doi. 10.1111/pin.12587

By:

Iwashita, Hiromichi;
Okudela, Koji;
Matsumura, Mai;
Yamanaka, Shoji;
Sawazumi, Tomoe;
Enaka, Makiko;
Udaka, Naoko;
Miyake, Akio;
Hibiya, Takashi;
Miyake, Noriko;
Matsumoto, Naomichi;
Makiyama, Kazuhide;
Yao, Masahiro;
Nagashima, Yoji;
Ohashi, Kenichi

Publication type:

Article

Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.

Published in:

Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02033-6

By:

Kimura, Hiroki;
Nakatochi, Masahiro;
Aleksic, Branko;
Guevara, James;
Toyama, Miho;
Hayashi, Yu;
Kato, Hidekazu;
Kushima, Itaru;
Morikawa, Mako;
Ishizuka, Kanako;
Okada, Takashi;
Tsurusaki, Yoshinori;
Fujita, Atsushi;
Miyake, Noriko;
Ogi, Tomoo;
Takata, Atsushi;
Matsumoto, Naomichi;
Buxbaum, Joseph;
Ozaki, Norio;
Sebat, Jonathan

Publication type:

Article

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86

By:

Tsurusaki, Yoshinori;
Kobayashi, Yasuko;
Hisano, Masataka;
Ito, Shuichi;
Doi, Hiroshi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72

By:

Tsurusaki, Yoshinori;
Tanaka, Ryuta;
Shimada, Shino;
Shimojima, Keiko;
Shiina, Masaaki;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Miyake, Noriko;
Ogata, Kazuhiro;
Yamamoto, Toshiyuki;
Matsumoto, Naomichi

Publication type:

Article

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 509, doi. 10.1038/jhg.2015.57

By:

Fukumura, Shinobu;
Ohba, Chihiro;
Watanabe, Toshihide;
Minagawa, Kimio;
Shimura, Masaru;
Murayama, Kei;
Ohtake, Akira;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Tsutsumi, Hiroyuki

Publication type:

Article

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 381, doi. 10.1038/jhg.2015.35

By:

Kohrogi, Kensaku;
Imagawa, Eri;
Muto, Yuichiro;
Hirai, Katsuki;
Migita, Masahiro;
Mitsubuchi, Hiroshi;
Miyake, Noriko;
Matsumoto, Naomichi;
Nakamura, Kimitoshi;
Endo, Fumio

Publication type:

Article

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 277, doi. 10.1038/jhg.2015.13

By:

Fukai, Ryoko;
Hiraki, Yoko;
Yofune, Hiroko;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Tanaka, Fumiaki;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 167, doi. 10.1038/jhg.2015.5

By:

Tohyama, Jun;
Nakashima, Mitsuko;
Nabatame, Shin;
Gaik-Siew, Ch'ng;
Miyata, Rie;
Rener-Primec, Zvonka;
Kato, Mitsuhiro;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7

By:

Kunii, Misako;
Doi, Hiroshi;
Higashiyama, Yuichi;
Kugimoto, Chiharu;
Ueda, Naohisa;
Hirata, Junichi;
Tomita-Katsumoto, Atsuko;
Kashikura-Kojima, Mari;
Kubota, Shun;
Taniguchi, Midori;
Murayama, Kei;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Tanaka, Fumiaki

Publication type:

Article

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124

By:

Miyatake, Satoko;
Koshimizu, Eriko;
Fujita, Atsushi;
Fukai, Ryoko;
Imagawa, Eri;
Ohba, Chihiro;
Kuki, Ichiro;
Nukui, Megumi;
Araki, Atsushi;
Makita, Yoshio;
Ogata, Tsutomu;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

A message for 2015.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 109, doi. 10.1038/jhg.2015.9

By:

Matsumoto, Naomichi

Publication type:

Article

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103

By:

Kodera, Hirofumi;
Osaka, Hitoshi;
Iai, Mizue;
Aida, Noriko;
Yamashita, Akio;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 649, doi. 10.1038/jhg.2014.88

By:

Suzuki, Toshifumi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Saitsu, Hirotomo;
Takeda, Satoru;
Matsumoto, Naomichi

Publication type:

Article

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 687, doi. 10.1038/jhg.2014.91

By:

Saitsu, Hirotomo;
Yamashita, Sumimasa;
Tanaka, Yukichi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 691, doi. 10.1038/jhg.2014.95

By:

Nakashima, Mitsuko;
Miyajima, Masakazu;
Sugano, Hidenori;
Iimura, Yasushi;
Kato, Mitsuhiro;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Arai, Hajime;
Matsumoto, Naomichi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 589, doi. 10.1038/jhg.2014.75

By:

Yoshida, Kunihiro;
Miyatake, Satoko;
Kinoshita, Tomomi;
Doi, Hiroshi;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71

By:

Saitsu, Hirotomo;
Tohyama, Jun;
Walsh, Tom;
Kato, Mitsuhiro;
Kobayashi, Yu;
Lee, Ming;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Goto, Yu-ichi;
Nishino, Ichizo;
Ohtake, Akira;
King, Mary-Claire;
Matsumoto, Naomichi

Publication type:

Article

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51

By:

Nakashima, Mitsuko;
Takano, Kyoko;
Osaka, Hitoshi;
Aida, Noriko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 5, p. 292, doi. 10.1038/jhg.2014.18

By:

Ohba, Chihiro;
Nabatame, Shin;
Iijima, Yoshitaka;
Nishiyama, Kiyomi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Tanaka, Fumiaki;
Ozono, Keiichi;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article