Noriko Miyake

Noriko Miyake

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Noriko Miyake

Noriko Miyake

Publications by authors named "Noriko Miyake"

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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

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

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

Am J Hum Genet 2019 Nov 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
November 2019

Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.

CEN Case Rep 2019 Nov 1. Epub 2019 Nov 1.

Department of Nephrology, Kumamoto University Graduate School of Medical Sciences, 1-1-1 Honjo, Chuo-ku, Kumamoto, Kumamoto, 860-8556, Japan.

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http://dx.doi.org/10.1007/s13730-019-00429-wDOI Listing
November 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

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

Tbx6 induces cardiomyocyte proliferation in postnatal and adult mouse hearts.

Biochem Biophys Res Commun 2019 Jun 19;513(4):1041-1047. Epub 2019 Apr 19.

Department of Cardiology, Faculty of Medicine, University of Tsukuba, 1-1-1, Tennoudai, Tsukuba City, Ibaraki, 305-8575, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2019.04.087DOI Listing
June 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

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

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

Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2019 Feb 4;56(2):89-95. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2018-105625DOI 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

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 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 11 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

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.

Clin Genet 2018 11 12;94(5):487-488. Epub 2018 Sep 12.

Fulgent Genetics, Temple City, California.

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http://dx.doi.org/10.1111/cge.13436DOI 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

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

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Ann Neurol 2018 07 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

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

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

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Congenit Anom (Kyoto) 2018 May 6;58(3):105-107. Epub 2017 Oct 6.

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

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http://dx.doi.org/10.1111/cga.12242DOI Listing
May 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

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

The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.

Brain Dev 2018 Apr 28;40(4):325-329. Epub 2017 Sep 28.

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

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http://dx.doi.org/10.1016/j.braindev.2017.09.002DOI Listing
April 2018

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

J Hum Genet 2018 Apr 23;63(4):529-532. Epub 2018 Jan 23.

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

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http://dx.doi.org/10.1038/s10038-017-0399-2DOI Listing
April 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

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

J Hum Genet 2018 Mar 16;63(3):263-270. Epub 2018 Jan 16.

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

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http://dx.doi.org/10.1038/s10038-017-0405-8DOI Listing
March 2018

A novel mutation in SLC1A3 causes episodic ataxia.

J Hum Genet 2018 Feb 5;63(2):207-211. Epub 2017 Dec 5.

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

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http://dx.doi.org/10.1038/s10038-017-0365-zDOI Listing
February 2018

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

Mov Disord 2018 01 22;33(1):177-179. Epub 2017 Nov 22.

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

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http://dx.doi.org/10.1002/mds.27219DOI Listing
January 2018

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.

J Hum Genet 2017 Nov 20;62(11):997-1000. Epub 2017 Jul 20.

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

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http://dx.doi.org/10.1038/jhg.2017.77DOI Listing
November 2017

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

Pathol Int 2017 Nov 28;67(11):585-589. Epub 2017 Sep 28.

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

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http://dx.doi.org/10.1111/pin.12587DOI Listing
November 2017

Novel and recurrent and mutations in the Marshall-Stickler syndrome spectrum.

Hum Genome Var 2017 5;4:17040. Epub 2017 Oct 5.

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

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http://dx.doi.org/10.1038/hgv.2017.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628180PMC
October 2017

Incomplete recovery of the fecal flora of hematological patients with neutropenia and repeated fluoroquinolone prophylaxis.

Infect Drug Resist 2017 27;10:193-199. Epub 2017 Jun 27.

Center for the Study of Global Infection, Kyushu University Hospital, Fukuoka, Japan.

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http://dx.doi.org/10.2147/IDR.S133333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500534PMC
June 2017

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

CEN Case Rep 2016 Nov 21;5(2):137-140. Epub 2016 Jan 21.

Department of Pediatrics, Kyorin University School of Medicine, 6-20-2, Shinkawa, Mitaka, Tokyo, 181-8611, Japan.

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http://dx.doi.org/10.1007/s13730-015-0210-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413751PMC
November 2016