MIYAKE Noriko

J-GLOBAL         Last updated: Jan 7, 2020 at 09:46
 
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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

 
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomiza S, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Oho K, Kato M, Ogata K, Matsumoto N.
Am J Hum Genet.   106(1) 13-25   Jan 2020   [Refereed]
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
306. Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N.
J Hum Genet.   64(12) 1173-1186   Dec 2019   [Refereed]
GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy.
301. Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F.
Ann Neurol.   86(6) 962-968   Dec 2019   [Refereed]
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene.
298. Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B.
Genet Med.   21(12) 2734-2743   Dec 2019   [Refereed]
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.
300. Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N.
J Hum Genet.   64(11) 1107-1116   Nov 2019   [Refereed]
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K.
Am J Hum Genet.   105(5) 987-995   Nov 2019   [Refereed]
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
305. Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
J Hum Genet.   64(10) 967-978   Oct 2019   [Refereed]
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N.
BMC Neurol.   19(1) 253   Oct 2019   [Refereed]
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
302. Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N
J Hum Genet.   64(9) 885-890   Sep 2019   [Refereed]
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
299. Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE.
Am J Hum Genet.   105(2) 403-412   Aug 2019   [Refereed]
A novel de novo frameshift variant in SETD1B causes epilepsy.
Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N.
J Hum Genet.   64(8) 821-827   Aug 2019   [Refereed]
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
296. Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.
Genet Med.   21(7) 1629-1638   Jul 2019   [Refereed]
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.
Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N.
J Hum Genet.   64(7) 647-652   Jul 2019   [Refereed]
Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.
Am J Med Genet A.   179(7) 1126-1138   Jul 2019   [Refereed]
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.
Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N.
J Hum Genet.   64(7) 647-652   Jun 2019   [Refereed]
Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
291. Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N.
Neurology.   93(3) e237-e251   Jun 2019   [Refereed]
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S.
Ann Neurol.   85(6) 927-933   Jun 2019   [Refereed]
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N.
J Med Genet.   56(6) 396-407   Jun 2019   [Refereed]
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.
Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N.
Arthritis Res Ther.   21(1) 137-137   Jun 2019   [Refereed]
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.
Nat Commun.   10(1) 2506-2506   Jun 2019   [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

 
Coffin-Siris syndrome
MIYAKE Noriko (Part:Contributor)
Jun 2019   
Aicardi syndrome
MIYAKE Noriko
May 2019   
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
Miyake N, Kosho T, Matsumoto N.
Adv Exp Med Biol.   2014   

Conference Activities & Talks

 
Genetic analysis for Mendelian disorders with new technologies [Invited]
MIYAKE Noriko
the Genomic Medicine 2019   7 Jun 2019   
Prospect of genome analysis in Mendelian disorders [Invited]
MIYAKE Noriko
63th Annual Meeting of JSHG   13 Oct 2018