Naomichi Matsumoto

Naomichi Matsumoto

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Naomichi Matsumoto

Publications by authors named "Naomichi Matsumoto"

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A novel de novo frameshift variant in SETD1B causes epilepsy.

J Hum Genet 2019 Aug 20;64(8):821-827. Epub 2019 May 20.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://www.nature.com/articles/s10038-019-0617-1
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http://dx.doi.org/10.1038/s10038-019-0617-1DOI Listing
August 2019

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.

J Hum Genet 2019 Jul 15;64(7):647-652. Epub 2019 Apr 15.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-019-0596-2DOI Listing
July 2019

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.

Mol Genet Genomic Med 2019 Jul 20;7(7):e00698. Epub 2019 May 20.

Department of Embryology, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.

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http://dx.doi.org/10.1002/mgg3.698DOI Listing
July 2019

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 Jul 13;93(3):e237-e251. Epub 2019 Jun 13.

From the Departments of Human Genetics (A.F., S. Mitsuhashi, T.M., A.T., S. Miyatake, N. Miyake, N. Matsumoto) and Neurosurgery (M.S.), Yokohama City University Graduate School of Medicine; Departments of Functional Neurosurgery (T.H., H. Shirozu, H.M., M.F., S.K.) and Child Neurology (J.T.), Epilepsy Center, National Hospital Organization Nishiniigata Chuo Hospital Niigata, Japan; Department of Pediatrics and Neurology (M.S.), Wayne State University, Children's Hospital of Michigan, Detroit Medical Center; Department of Pediatrics (M.K.), Showa University School of Medicine, Tokyo; Department of Biochemistry (M.N., H. Saitsu), Hamamatsu University School of Medicine; and Clinical Research Institute (Y.T.), Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000007774DOI Listing
July 2019

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

Epilepsy Res 2019 Jul 2;155:106161. Epub 2019 Jul 2.

Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106161DOI Listing
July 2019

A Japanese patient with RAD51-associated Fanconi anemia.

Am J Med Genet A 2019 Jun 25;179(6):900-902. Epub 2019 Mar 25.

Department of Pediatrics, University of Tokyo, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61130DOI Listing
June 2019

A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy.

Epilepsy Res 2019 Jun 3;155:106149. Epub 2019 Jun 3.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1016/j.eplepsyres.2019.06.001DOI Listing
June 2019

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

J Hum Genet 2019 May 14;64(5):487-492. Epub 2019 Feb 14.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0571-yDOI Listing
May 2019

A message for 2019.

J Hum Genet 2019 May 25;64(5):355-357. Epub 2019 Apr 25.

Journal of Human Genetics, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0580-xDOI Listing
May 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.

Neuropediatrics 2019 04 29;50(2):126-129. Epub 2019 Jan 29.

Departments of Pediatrics, Seirei-Mikatahara General Hospital, Shizuoka, Japan.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1677869
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http://dx.doi.org/10.1055/s-0039-1677869DOI Listing
April 2019

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Am J Hum Genet 2019 Apr 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451697PMC
April 2019

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation.

Brain Dev 2019 Apr 24. Epub 2019 Apr 24.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.04.009DOI Listing
April 2019

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Neurol Genet 2019 Apr 25;5(2):e319. Epub 2019 Mar 25.

Department of Pediatrics (Y.N., K. Hirohata, R.I., A.O.), Graduate School of Medicine, The University of Tokyo; Department of Human Genetics (K. Hamanaka, S.M., N.M.), Graduate School of Medicine, Yokohama City University; Department of Pediatrics (M.M.), School of Medicine, Teikyo University, Tokyo; and Department of Pediatrics (H.S.), Graduate School of Medicine, Osaka City University, Osaka, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454308PMC
April 2019

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.

J Hum Genet 2019 Mar 17;64(3):191-197. Epub 2018 Dec 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-018-0551-7DOI Listing
March 2019

SOFT syndrome in a patient from Chile.

Am J Med Genet A 2019 Mar 20;179(3):338-340. Epub 2018 Dec 20.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.61015
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http://dx.doi.org/10.1002/ajmg.a.61015DOI Listing
March 2019

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

Genome Biol 2019 03 19;20(1):58. Epub 2019 Mar 19.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1186/s13059-019-1667-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425644PMC
March 2019

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).

Seizure 2019 Feb 18;65:118-123. Epub 2019 Jan 18.

National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka-shi, Shizuoka, 420-8688, Japan.

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http://dx.doi.org/10.1016/j.seizure.2019.01.009DOI Listing
February 2019

RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype.

Congenit Anom (Kyoto) 2019 Feb 13. Epub 2019 Feb 13.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12327DOI Listing
February 2019

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation.

Congenit Anom (Kyoto) 2019 Feb 25. Epub 2019 Feb 25.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1111/cga.12330DOI Listing
February 2019

A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.

Brain Dev 2019 Jan 1;41(1):101-105. Epub 2018 Aug 1.

Department of Pediatrics, Gifu Prefectural General Medical Center, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.07.011DOI Listing
January 2019

The 2018 JHG Young Scientist Award.

J Hum Genet 2019 Jan 2;64(1). Epub 2018 Nov 2.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-018-0526-8DOI Listing
January 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 Nov 6;94(5):461-466. Epub 2018 Aug 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://doi.wiley.com/10.1111/cge.13415
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http://dx.doi.org/10.1111/cge.13415DOI Listing
November 2018

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Am J Med Genet A 2018 11 23;176(11):2446-2450. Epub 2018 Sep 23.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.40479DOI Listing
November 2018

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.

Brain 2018 11;141(11):3098-3114

Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, 713-8 Kamiya, Kasugai, Aichi, Japan.

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http://dx.doi.org/10.1093/brain/awy246DOI Listing
November 2018

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

Cerebellum 2018 Oct;17(5):525-530

Department of Brain Disease Research, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.

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http://dx.doi.org/10.1007/s12311-018-0941-6DOI Listing
October 2018

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

Int J Hematol 2018 Oct 30;108(4):443-446. Epub 2018 Apr 30.

Department of Hematology, Gunma University Graduate School of Medicine, Maebashi, Japan.

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http://dx.doi.org/10.1007/s12185-018-2462-yDOI Listing
October 2018

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Brain Dev 2018 Oct 12;40(9):819-823. Epub 2018 Jun 12.

Department of Pediatrics, Nagasaki University Hospital, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.05.012DOI Listing
October 2018

A novel SLC9A1 mutation causes cerebellar ataxia.

J Hum Genet 2018 Oct 17;63(10):1049-1054. Epub 2018 Jul 17.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

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http://www.nature.com/articles/s10038-018-0488-x
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http://dx.doi.org/10.1038/s10038-018-0488-xDOI Listing
October 2018

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

J Hum Genet 2018 Sep 8;63(9):1003-1007. Epub 2018 Jun 8.

Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1038/s10038-018-0473-4DOI Listing
September 2018

Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.

Brain Dev 2018 Aug 17;40(7):566-569. Epub 2018 Apr 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.03.012DOI Listing
August 2018

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.

Seizure 2018 Aug 13;60:91-93. Epub 2018 Jun 13.

Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.

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http://dx.doi.org/10.1016/j.seizure.2018.06.012DOI Listing
August 2018

Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.

Epileptic Disord 2018 Aug;20(4):313-318

Department of Pediatrics, Showa University School of Medicine, 1-5-8, Hatanodai, Shinagawa-ku, Tokyo, Japan.

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http://dx.doi.org/10.1684/epd.2018.0981DOI Listing
August 2018

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Ann Neurol 2018 Jul 30;84(1):159-161. Epub 2018 Jul 30.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

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http://dx.doi.org/10.1002/ana.25256DOI Listing
July 2018

PEX10-related autosomal recessive cerebellar ataxia with hearing loss.

Acta Neurol Belg 2018 Jul 19. Epub 2018 Jul 19.

Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

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http://dx.doi.org/10.1007/s13760-018-0987-8DOI Listing
July 2018

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.

BMC Med Genet 2018 07 27;19(1):131. Epub 2018 Jul 27.

Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, South Korea.

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http://dx.doi.org/10.1186/s12881-018-0649-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063015PMC
July 2018

A recurrent homozygous variant in siblings with Lafora disease.

Hum Genome Var 2018 12;5:16. Epub 2018 Jul 12.

5Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://dx.doi.org/10.1038/s41439-018-0015-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043589PMC
July 2018

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

Brain Dev 2018 Jun 12;40(6):493-497. Epub 2018 Mar 12.

Research Center for Children and Research Center for Rett syndrome, St. Mary's Hospital, Fukuoka, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.02.002DOI Listing
June 2018

Dysosteosclerosis is also caused by TNFRSF11A mutation.

J Hum Genet 2018 Jun 22;63(6):769-774. Epub 2018 Mar 22.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.

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http://dx.doi.org/10.1038/s10038-018-0447-6DOI Listing
June 2018

The second point mutation in PREPL: a case report and literature review.

J Hum Genet 2018 May 26;63(5):677-681. Epub 2018 Feb 26.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-018-0426-yDOI Listing
May 2018

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

J Hum Genet 2018 May 28;63(5):673-676. Epub 2018 Feb 28.

Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://www.nature.com/articles/s10038-018-0421-3
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http://dx.doi.org/10.1038/s10038-018-0421-3DOI Listing
May 2018

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Brain Dev 2018 May 5;40(5):406-409. Epub 2018 Mar 5.

Department of Pediatrics, Research Center for Children, Research Center for Rett Syndrome, St. Mary's Hospital, Kurume, Fukuoka 830-8543, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.12.013DOI Listing
May 2018

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

Hum Genome Var 2018 21;5. Epub 2018 May 21.

1Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, P.O. Box 14115-331 Tehran, Iran.

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http://dx.doi.org/10.1038/s41439-018-0007-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960644PMC
May 2018

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

J Hum Genet 2018 Apr 6;63(4):487-491. Epub 2018 Feb 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-017-0404-9DOI Listing
April 2018

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.

J Hum Genet 2018 Apr 13;63(4):425-430. Epub 2018 Feb 13.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-018-0410-6DOI Listing
April 2018

A message for 2018.

J Hum Genet 2018 Apr 26;63(4):393-396. Epub 2018 Mar 26.

Journal of Human Genetics, .

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http://dx.doi.org/10.1038/s10038-018-0417-zDOI Listing
April 2018