Naomichi Matsumoto

Naomichi Matsumoto

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Naomichi Matsumoto

Publications by authors named "Naomichi Matsumoto"

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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

J Hum Genet 2020 Sep 27;65(9):727-734. Epub 2020 Apr 27.

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

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http://dx.doi.org/10.1038/s10038-020-0758-2DOI Listing
September 2020

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

J Hum Genet 2020 Sep 14;65(9):751-757. Epub 2020 May 14.

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

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http://dx.doi.org/10.1038/s10038-020-0765-3DOI Listing
September 2020

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

Genome Med 2020 Jul 31;12(1):67. Epub 2020 Jul 31.

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/s13073-020-00762-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393826PMC
July 2020

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.

J Neurol Sci 2020 Jul 17;416:117047. Epub 2020 Jul 17.

Department of Neurology and Stroke Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.117047DOI Listing
July 2020

Effect of total callosotomy on KCNQ2-related intractable epilepsy.

Brain Dev 2020 Jun 9. Epub 2020 Jun 9.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-2606, Japan.

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http://dx.doi.org/10.1016/j.braindev.2020.05.005DOI Listing
June 2020

A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly.

J Hum Genet 2020 May 31;65(5):481-485. Epub 2020 Jan 31.

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://dx.doi.org/10.1038/s10038-020-0728-8DOI Listing
May 2020

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.

J Hum Genet 2020 May 18;65(5):475-480. Epub 2020 Feb 18.

Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-020-0733-yDOI Listing
May 2020

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Am J Hum Genet 2020 05 2;106(5):596-610. Epub 2020 Apr 2.

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212265PMC
May 2020

[A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs].

Rinsho Shinkeigaku 2020 May 18;60(5):317-320. Epub 2020 Apr 18.

Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine.

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http://dx.doi.org/10.5692/clinicalneurol.cn-001324DOI Listing
May 2020

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

Eur J Med Genet 2020 Mar 16;63(3):103769. Epub 2019 Sep 16.

Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai-shi, Miyagi, 989-3126, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212193016
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http://dx.doi.org/10.1016/j.ejmg.2019.103769DOI Listing
March 2020

Novel variants of ABCC9 in Japanese children with Cantú syndrome.

Pediatr Int 2020 Mar 21;62(3):410-412. Epub 2020 Mar 21.

Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.

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http://dx.doi.org/10.1111/ped.14098DOI Listing
March 2020

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

Congenit Anom (Kyoto) 2020 Jan 2;60(1):40-41. Epub 2019 Apr 2.

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
January 2020

Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients.

Biol Pharm Bull 2019 ;42(9):1596-1599

Department of Biosignaling and Radioisotope Experiment, Interdiscipnary Center for Science Research, Organization for Research and Academic Information, Shimane University.

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http://dx.doi.org/10.1248/bpb.b19-00168DOI Listing
January 2020

Long-read sequencing for rare human genetic diseases.

J Hum Genet 2020 Jan 27;65(1):11-19. Epub 2019 Sep 27.

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

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http://dx.doi.org/10.1038/s10038-019-0671-8DOI Listing
January 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

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

Front Pediatr 2019 20;7:531. Epub 2019 Dec 20.

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

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http://dx.doi.org/10.3389/fped.2019.00531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951394PMC
December 2019

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

Congenit Anom (Kyoto) 2019 Nov 8;59(6):195-196. Epub 2019 Mar 8.

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
November 2019

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.

J Hum Genet 2019 Nov 13;64(11):1107-1116. Epub 2019 Aug 13.

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://dx.doi.org/10.1038/s10038-019-0654-9DOI Listing
November 2019

Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders".

Ann Neurol 2019 11 4;86(5):805-806. Epub 2019 Oct 4.

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

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http://dx.doi.org/10.1002/ana.25599DOI Listing
November 2019

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 11 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848994PMC
November 2019

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.

J Hum Genet 2019 Oct 16;64(10):1005-1014. Epub 2019 Jul 16.

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

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http://dx.doi.org/10.1038/s10038-019-0641-1DOI Listing
October 2019

Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome.

Neurol Clin Pract 2019 Oct;9(5):e45-e47

Department of Neurology and Stroke Medicine (HN, HK, EU, YN, KT, MK, MT, HJ, SK, HD, HT, FT) and Department of Human Genetics (NM), Yokohama City University Graduate School of Medicine, Fukuura, Kanazawa-ku, Japan.

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http://dx.doi.org/10.1212/CPJ.0000000000000599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814421PMC
October 2019

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

Brain Dev 2019 Sep 24;41(8):726-730. 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
September 2019

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

Epilepsy Res 2019 09 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
September 2019

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

Epilepsy Res 2019 09 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
September 2019

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 07 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625133PMC
July 2019

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 07 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

A Japanese patient with RAD51-associated Fanconi anemia.

Am J Med Genet A 2019 06 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

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 05 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 04 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

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 03 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

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