MIYAKE Noriko

J-GLOBAL         Last updated: Jan 28, 2019 at 21:08
 
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Name
MIYAKE Noriko
URL
http://www-user.yokohama-cu.ac.jp/~hygiene/
Affiliation
Yokohama City University
Section
School of Medicine, Medical Course, Human Genetics', Medical Studies
Job title
Associate Professor

Research Areas

 
 

Academic & Professional Experience

 
 
   
 
Assistant Professor, Department of Human Genetics, Yokohama City University Graduate School of Medicine
 

Education

 
 
   
 
Nagasaki University
 

Awards & Honors

 
2014
John M. Opitz Young Investigator Award
 

Published Papers

 
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N.
Ann Neurol.   84(6) 843-853   Dec 2018   [Refereed]
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N.
Ann Neurol.   84(6) 814-828   Dec 2018   [Refereed]
Novel SUZ12 mutations in Weaver-like syndrome.
Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorg AAL, Matsumoto N.
Clin Genet.   64(5) 461-466   Nov 2018   [Refereed]
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N
Clin Genet.      Oct 2018   [Refereed]
A novel SLC9A1 mutation causes cerebellar ataxia.
Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N.
J Hum Genet.   63(10) 1049-1054   Oct 2018   [Refereed]
PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N.
Clin Genet.   94(3-4) 362-367   Oct 2018   [Refereed]
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y.
Clin Genet.   94(3-4) 391-392   Oct 2018   [Refereed]
Screening of known disease genes in congenital scoliosis.
Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S.
Mol Genet Genomic Med.      Sep 2018   [Refereed]
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.
Am J Med Genet A.      Sep 2018   [Refereed]
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K.
J Hum Genet.   63(9) 1003-1007   Sep 2018   [Refereed]
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N.
J Hum Genet.      Sep 2018   [Refereed]
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.
Genet Med.      Sep 2018   [Refereed]
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N.
Clin Genet.   94(2) 274-275   Aug 2018   [Refereed]
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N,Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka F.
Clin Genet.   94(2) 232-238   Aug 2018   [Refereed]
Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N
Brain & development   40(7) 566-569   Aug 2018   [Refereed]
Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N, Saitsu H
Human mutation   39(8) 1070-1075   Aug 2018   [Refereed]
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian Genomics., DDD Study., Reis A, Sticht H, Zweier C
American journal of human genetics   103(2) 305-316   Aug 2018   [Refereed]
Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, Ohga S
Journal of pediatric hematology/oncology   40(5) 391-394   Jul 2018   [Refereed]
Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N
Annals of neurology   84(1) 159-161   Jul 2018   [Refereed]
Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N
Journal of human genetics      Jul 2018   [Refereed]

Misc

 
MIYAKE Noriko
Clinical Genetics   74(4) 8   2008
MIYAKE Noriko
American journal of medical genetics. Part A   146A(14) 4   2008
MIYAKE Noriko
Journal of Medical Genetics   45(7) 2   2008
MIYAKE Noriko
Journal of Human Genetics   53(10) 914-919   2008

Books etc

 
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N, Kosho T, Matsumoto N.
Adv Exp Med Biol.   2014   

Conference Activities & Talks

 
Prospect of genome analysis in Mendelian disorders [Invited]
MIYAKE Noriko
63th Annual Meeting of JSHG   13 Oct 2018