博士（医学）, Shinshu University School of Medicine

Genome biology, Molecular Cytogenetics

Medical biochemistry, medical genetics

Genetics, Cytogenetics

Genome biology, Clinical Cytogenetics

2013
Shinshu University School of Medicine, Assistant Professor

2001 - 2002, Baylor College of Medicine, Department of Molecular and Human Genetics, USA

1996 - 2000, Shinshu University Graduate School, School of Medicine, Doctor of Philosophy

1999
Councilor, The Japan Society of Human Genetics

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Am J Med Genet A, 191(1), 37-51, Jan. 2023, Refereed

Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder
Nishizawa H, Motobayashi M, Akahane M, Wakui K, Kitazawa N, Inaba Y, Fukushima Y, Kosho T.
Brain Dev, 44(3), 229-233, Mar. 2022

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M.
J Hum Genet., 66(11), 1121-1126, Nov. 2021

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis
Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T.
Am J Med Genet A., 185(7), 2175-2179, Jul. 2021

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
Sugiyama K, Moteki H, Kitajiri SI, Kitano T, Nishio SY, Yamaguchi T, Wakui K, Abe S, Ozaki A, Motegi R, Matsui H, Teraoka M, Kobayashi Y, Kosho T, Usami SI.
Genes (Basel), 10(9), 715, Sep. 2019, Refereed

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review
Yamaguchi, Tomomi; Takano, Kyoko; Inaba, Yuji; Morikawa, Manami; Motobayashi, Mitsuo; Kawamura, Rie; Wakui, Keiko; Nishi, Eriko; Hirabayashi, Shin-ichi; Fukushima, Yoshimitsu; Kato, Hiroyuki; Takahashi, Jun; Kosho, Tomoki;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(6), 948-957, Jun. 2019

Frequency and clinical features of hearing loss caused by STRC deletions
Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;
SCIENTIFIC REPORTS, 9, 4408, 2019

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
Kawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo;
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 103(6), 2083-2088, Jun. 2018

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.
Morokawa H, Kamiya M, Wakui K, Kobayashi M, Kurata T, Matsuda K, Kawamura R, Kanno H, Fukushima Y, Nakazawa Y, Kosho T.
Hum Genome Var, 5, 6, 21 May 2018

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients
Kawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Nagasaki, Keisuke; Fukami, Maki; Kagami, Masayo;
HORMONE RESEARCH IN PAEDIATRICS, 90, 432-432, 2018

CTCF deletion syndrome: clinical features and epigenetic delineation.
Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S.
J Med Genet, 54(12), 836-842, Dec. 2017

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.
Hum Genome Var, 4, 17052, 26 Oct. 2017

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T.
Eur J Med Genet, 60(10), 521-526, Oct. 2017

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.
Ann Otol Rhinol Laryngol, 125(11), 918-923, Nov. 2016

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
Am J Med Genet A, 170A(2), 322-328, Feb. 2016

Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
Am J Med Genet A, 167A(3), 592-601, Mar. 2015

Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.
Wakui K
J Hum Genet., 59, 591-592, 2014

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Tsutomu OI, Kawame H, Narumi Y, Ohashi H, Fukushima Y.
Am J Med Genet A., 164A, 597-609, 2014

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.
Am J Med Genet A., 164A, 1272-1276, 2014

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21)
Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H.
Mol Cytogenet., 7, 55, 2014

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
Tanaka, K; Sekijima, Y; Yoshida, K; Tamai, M; Kosho, T; Sakurai, A; Wakui, K; Ikeda, S; Fukushima, Y
JOURNAL OF HUMAN GENETICS, 58(8), 560-563, Aug. 2013

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N.
Am J Med Genet A., 161A, 1221-1237, 2013

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.
Clin Genet., 83, 135-144, 2013

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
Nat Genet, 44, 376-378, 2012

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.
Am J Med Genet A, 158A, 412-6, 2012

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K
Am J Med Genet A, 158A, 861-8, 2012

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K
Chromosome Res., 20, 659-672, 2012

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.
Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K.
Autism Res Treat., 2012, 724072, 2012

A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered L-serine level associated with disruption of PSAT1 gene expression.
Ozeki Y, Pickard BS, Kano SI, Malloy MP, Zeledon M, Sun DQ, Fujii K, Wakui K, Shirayama Y, Fukushima Y, Kunugi H, Hashimoto K, Muir WJ, Blackwood DH, Sawa A
Neurosci Res, 69, 154-60, 2011

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H,Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N
Hum Genet, 56, 156-60, 2011

Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD Syndrome and a novel PTPN11 mutation Gln510His.
Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K, Fukushima Y, Matsubara Y, Aoki Y, Kosho T
Am J Med Genet A, 155A, 2529-2533, 2011

遺伝子診療を理解するための遺伝医学の基礎 臨床細胞遺伝学 (遺伝子診療学(第2版)--遺伝子診断の進歩とゲノム治療の展望) -- (遺伝子診断)
涌井 敬子;
日本臨床, 68, 13-19, Aug. 2010

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N, Kosho T (equal contribution), Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N
Hum Mutat, 31, 966-974, 2010

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Yamazaki M, Kosho T (equal contribution, corresponding author), Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y
Am J Med Genet A, 152A, 764-769, 2010

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
Muramatsu Y, Kosho T (corresponding author), Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y
Am J Med Genet A, 152A, 417-421, 2010

A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations.
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
Am J Med Genet A, 152A, 1333-1346, 2010

Identification of a high incidence region for retroviral vector integration near exon 1 of the LMO2 locus
Yamada, Koichiro; Tsukahara, Tomonori; Yoshino, Kazuhisa; Kojima, Katsuhiko; Agawa, Hideyuki; Yamashita, Yuki; Amano, Yuji; Hatta, Mariko; Matsuzaki, Yasunori; Kurotori, Naoki; Wakui, Keiko; Fukushima, Yoshimitsu; Osada, Ryosuke; Shiozawa, Tanri; Sakashita, Kazuo; Koike, Kenichi; Kumaki, Satoru; Tanaka, Nobuyuki; Takeshita, Toshikazu
RETROVIROLOGY, 6, 79, Sep. 2009

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment
Kosho, Tomoki; Sakazume, Satoru; Kawame, Hiroshi; Wakui, Keiko; Wada, Takahito; Okoshi, Yumi; Mikawa, Makoto; Hasegawa, Tomonobu; Matsuura, Nobuo; Niikawa, Norio; Matsumoto, Naomichi; Fukushima, Yoshimitsu;
CLINICAL DYSMORPHOLOGY, 17(1), 31-34, Jan. 2008

Bilateral Perisylvian Polymicrogyria, Periventricular Nodular Heterotopia, and Left Ventricular Noncompaction in a Girl With 10.5-11.1 Mb Terminal Deletion of 1p36
Saito, Shoji; Kawamura, Rie; Kosho, Tomoki; Shimizu, Takashi; Aoyama, Koki; Koike, Kenichi; Wada, Takahito; Matsumoto, Naotnichi; Kato, Mitsuhiro; Wakui, Keiko; Fukushima, Yoshimitsu;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(22), 2891-2897, 2008

Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan
Yoshida, Kunihiro; Wada, Takahito; Sakurai, Akihiro; Wakui, Keiko; Ikeda, Shu-ichi; Fukushima, Yoshimitsu;
JOURNAL OF HUMAN GENETICS, 52(8), 675-679, Aug. 2007

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12
Onouchi, Yoshihiro; Tamari, Mayumi; Takahashi, Atsushi; Tsunoda, Tatsuhiko; Yashiro, Mayumi; Nakamura, Yoshikazu; Yanagawa, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Kawasaki, Tomisaku; Nakamura, Yusuke; Hata, Akira;
JOURNAL OF HUMAN GENETICS, 52(2), 179-190, Feb. 2007

Mandibuloacral dysplasia and a novel LMNA mutationin in a woman with severe progressive skeletal changes
Kosho, Tomoki; Takahashi, Jun; Momose, Takashige; Nakamura, Akinori; Sakurai, Akihiro; Wada, Takahito; Yoshida, Kunihiro; Wakui, Keiko; Suzuki, Takefumi; Kasuga, Kazuo; Nishimura, Gen; Kato, Hiroyuki; Fukushima, Yoshimitsu;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A(21), 2598-2603, 2007

A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia
Hidaka, Eiko; Tanaka, Miyuki; Matsuda, Kazuyuki; Ishikawa-Matsumura, Masayo; Yamauchi, Kazuyoshi; Sano, Kenji; Honda, Takayuki; Wakui, Keiko; Yanagisawa, Ryu; Nakazawa, Yozo; Sakashita, Kazuo; Shiohara, Masaaki; Ishii, Eizaburo; Koike, Kenichi;
CANCER GENETICS AND CYTOGENETICS, 176(2), 137-143, 2007

Molecular characterizationof a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities
Haider, S; Matsumoto, R; Kurosaiva, N; Wakui, K; Fukushima, Y; Isobe, M
JOURNAL OF HUMAN GENETICS, 51(4), 335-340, 2006

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG
Eur J Hum Genet, 138, 528-540, 2005

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome
Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL
Am J Med Genet A, 133, 180-183, 2005

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B
Am J Hum Genet, 77, 161-168, 2005

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation
Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B
Mol Genet Metab, 86, 257-268, 2005

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats
Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR
Hum Mol Genet, 14(4), 535-542, 2005

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1) t(1;1) (p36; q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
Ballif BC, Wakui K, Gajecka M, Shaffer LG
Hum Genet, 114, 198-206, 2004

CD40 ligand gene and Kawasaki disease
Onouchi Y, Onoue S, Tamari M, Wakui K, Fukushima Y, Yashiro M, Nakamura Y, Yanagawa H, Kishi F, Ouchi K, Terai M, Hamamoto K, Kudo F, Aotsuka H, Sato Y, Nariai A, Kaburagi Y, Miura M, Saji T, Kawasaki T, Nakamura Y, Hata A
EUROPEAN JOURNAL OF HUMAN GENETICS, 12(12), 1062-1068, 2004

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N
J Hum Genet, 49(7), 360-365, 2004

‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t (15, 22) (q14; q11.2) translocation
Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T
Clin Genet, 63, 79-81, 2003

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE
Hum Mol Genet, 12, 1823-1837, 2003

Genome architecture catalyzes nonrecurrent chromosomal rearrangements
Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR
Am J Hum Genet, 72, 1101-1116, 2003

A genome wide search for KawasakiDisease susceptibility genes
Onouchi, Y; Onoue, S; Tamari, M; Wakui, K; Fukushima, Y; Yashiro, M; Nakamura, Y; Yanagawa, H; Kawasaki, T; Nakamura, Y; Hata, A
AMERICAN JOURNAL OF HUMAN GENETICS, 73(5), 492-492, 2003

染色体検査 (増刊号 小児外来の検査の要領と診断への活かし方) -- (生検-遺伝子検査)
和田 敬仁; 涌井 敬子; 福嶋 義光;
小児科臨床, 56, 1472-1480, 2003

Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y
J Hum Genet, 47(10), 511-516, 2002

Three novel DNMT3B mutations in Japanese patients with ICF syndrome
Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, SuetakeI, Tajima T, Wakui K,Miki Y, Hayashi M, Fukushima Y, Sasaki H
Am J Med Genet, 112(1), 31-37, 2002

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease
Inoue, K; Kanai, M; Tanabe, Y; Kubota, T;Kashork, CD; Wakui, K; Fukushima, Y; Lupski, JR; Shaffer, LG
PRENATAL DIAGNOSIS, 21(13), 1133-1136, 2001

Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1
Miyoshi, O; Yabe, R; Wakui,K; Fukushima, Y; Koizumi, S; Uchikawa, M; Kajii, T; Numakura, C; Takahashi, S; Hayasaka, K; Niikawa, N
AMERICAN JOURNAL OF MEDICAL GENETICS, 104(3), 250-256, 2001

A familial 14Mb interstitial deletion of 21q11-q21.3 confirmed by FISH using sub-regional-specific DNA clones.
Wakui, K; Toyoda, A; Hattori, M; Kubota, T; Hidaka, E; Ishikawa, M; Katsuyama, T; Sakaki, Y; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 69(4), 331-331, 2001

Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1
Saito, T; Kinoshita, A; Yoshiura, K; Makita, Y; Wakui, K; Honke, K; Niikawa, N; Taniguchi, N
JOURNAL OF BIOLOGICAL CHEMISTRY, 276(15), 11469-11472, 2001

Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period - A case report
Saito, N; Ebara, S; Fukushima, Y; Wakui, K; Takaoka, K
SPINE, 26(7), 835-837, 2001

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses
Seki, H; Kubota, T; Ikegawa, S; Haga, N; Fujioka, F; Ohzeki, S; Wakui, K; Yoshikawa, H; Takaoka, K; Fukushima, Y
AMERICAN JOURNAL OF MEDICAL GENETICS, 99(1), 59-62, 2001

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature
Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 85(8), 2927-2930, 2000

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26
Ogata, T; Muroya, K; Sasagawa, I; Kosho, T; Wakui, K; Sakazume, S; Ito, K; Matsuo, N; Ohashi, H; Nagai, T
KIDNEY INTERNATIONAL, 58(6), 2281-2290, 2000

Jumping translocations of 9q onto 14p, 13q and 7q, and pseudo isochromosome 9p results in 9p trisomy syndrome.
Wakui, K; Hidaka, E; Ishikawa, M; Ichikawa, M; Katsuyama, T; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 152-152, 2000

Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?
Ishikawa, S; Ishikawa, M; Tokuda, T; Yoshida, K; Wakui, K; Matsuura, S; Ohara, S; Sekijima, Y; Hidaka, E; Fukushima, Y; Shigeta, H; Komatsu, K; Ikeda, S
AMERICAN JOURNAL OF MEDICAL GENETICS, 94(4), 265-270, 2000

Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases
Muroya, K; Okuyama, T; Goishi, K; Ogiso, Y; Fukuda, S; Kameyama, J; Sato, H; Suzuki, Y; Terasaki, H; Gomyo, H; Wakui, K; Fukushima, Y; Ogata, T
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 85(9), 3094-3100, 2000

An autosomal dominant posterior polar cataract locus maps to human chromosome 20pl 12-q12
Yamada, K; Tomita, H; Yoshiura, K; Kondo, S; Wakui, K; Fukushima, Y; Ikegawa, S; Nakamura, Y; Amemiya, T; Niikawa, N
EUROPEAN JOURNAL OF HUMAN GENETICS, 8(7), 535-539, 2000

Structural analysis of a rare rearranged Y chromosome and itsbearing on genotype-phenotype correlation
Ogata, T; Wakui, K; Kosho, T; Muroya, K; Yamanouchi, Y; Takano, T; Fukushima, Y; Rappold, G; Suzuki, Y
AMERICAN JOURNAL OF MEDICAL GENETICS, 92(4), 256-259, 2000

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3
Ghadami, M; Makita, Y; Yoshida, K; Nishimura, G; Fukushima, Y; Wakui, K; Ikegawa, S; Yamada, K; Kondo, S; Niikawa, N; Tomita, H
AMERICAN JOURNAL OF HUMAN GENETICS, 66(1), 143-147, 2000

Severity of developmental delay is associated with the proportion of cells with functional X disomy in female patients with mosaic for small ring X chromosomes.
Kubota, T; Wakui, K; Watanabe, Y; Yoshino, M; Okamoto, N; Kida, T; Ohashi, H; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 157-157, 2000

A locus for an autosomal dominant posterior polar cataract on chromosome 20.
Yamada, K; Tomita, H; Yoshiura, K; Kondo, S; Wakui, K; Fukushima, Y; Ikegawa, S; Nakamura, Y; Amemiya, T; Niikawa, N
INVESTIGATIVE OPHTHALMOLOGY&VISUAL SCIENCE, 41(4), S2-S2, 2000

A gene responsible for paroxysmal kinesigenic choreoathetosis mapped to chromosome 16p11.2-g12.1.
Tomita, H; Yamada, K; Niikawa, N; Nakane, Y; Nagamitsu, S; Matsuishi, T; Wakui, K; Fukushima, Y; Kato, N
AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A449-A449, 1999

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies
Wakui, K; Tanemura, M; Suzumori, K; Hidaka, E; Ishikawa, M; Kubota, T; Fukushima, Y
JOURNAL OF HUMAN GENETICS, 44(2), 85-90, 1999

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
Kubota, T;Nonoyama, S; Tonoki, H; Masuno, M; Imaizumi, K; Kojima, M; Wakui, K; Shimadzu, M; Fukushima, Y
Human Genetics, 104(1), 49-55, 1999

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
Tomita, H; Nagamitsu, S; Wakui, K; Fukushima, Y; Yamada, K; Sadamatsu, M; Masui, A; Konishi, T; Matsuishi, T; Aihara, M; Shimizu, K; Hashimoto, K; Mineta, M; Matsushima, M; Tsujita, T; Saito, M; Tanaka, H; Tsuji, S; Takagi, T; Nakamura, Y; Nanko, S; Kato, N; Nakane, Y; Niikawa, N
AMERICAN JOURNAL OF HUMAN GENETICS, 65(6), 1688-1697, 1999

Aberrant DNA methylation occurs in multiple genes in esophageal cancer tissues.
Kbota, T; Seki, H; Wakui, K; Adachi, W; Nasu, T; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A40-A40, 1999

A familial interstitial deletion of 21q. It is possible for a recessive gene responsible for mental retardation to exist within 21q11-21.
Wakui, K; Kubota, T; Hidaka, E; Ishikawa, M; Katsuyama, T; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A362-A362, 1999

Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome
Kubota, T; Sakurai, A; Arakawa, K; Shimazu, M; Wakui, K; Furihata, K; Fukushima, Y
CLINICAL GENETICS, 54(3), 199-202, 1998

Assignment of human fatty-acid-Coenzyme A ligase, very long-chain 1 gene (FACVL1) to human chromosome band 15q21.2 by fluorescence in situ hybridization
Wakui, K; Aoyama, T; Uchiyama, A; Hashimoto, T; Fukushima, Y
CYTOGENETICS AND CELL GENETICS, 81(3-4), 292-293, 1998

Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
Ogata, T; Wakui, K; Muroya, K; Ohashi, H; Matsuo, N; Brown, DM; Ishii, T; Fukushima, Y
Human Genetics, 103(1), 51-56, 1998

4q33-qter deletion and absorptive hypercalciuria: Report of two unrelated girls
Imamura, K; Tonoki, H; Wakui, K; Fukushima, Y; Sasaki, S; Yausda, K; Takekoshi, Y; Tochimaru, H
AMERICAN JOURNAL OF MEDICAL GENETICS, 78(1), 52-54, 1998

Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution
Aoyama, T; Wakui, K; Orii, KE; Hashimoto, T; Fukushima, Y
CYTOGENETICS AND CELL GENETICS, 79(3-4), 221-224, 1997

Advanced diagnosis of chromosome aberrations by FISH analysis with telomeric probes.
Wakui, K; Kubota, T; Suzumori, K; Ogata, T; Ledbetter, DH; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 61(4), A142-A142, 1997

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
Hasegawa,T; Hasegawa, Y; Aso, T; Koto, S; Nagai, T; Tsuchiya, Y; Kim, KC; Ohashi, H; Wakui, K; Fukushima, Y
AMERICAN JOURNAL OF MEDICAL GENETICS, 73(4), 416-418, 1997

Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1
Nagai, M; Sakakibara, J; Wakui, K; Fukushima, Y; Igarashi, S; Tsuji, S; Arakawa, M; Ono, T
GENOMICS, 44(1), 141-143, 1997

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
Orii, KE; Aoyama, T; Wakui, K; Fukushima, Y; Miyajima, H; Yamaguchi, S; Orii, T; Kondo, N; Hashimoto, T
HUMAN MOLECULAR GENETICS, 6(8), 1215-1224, 1997

Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13
Kim, KC; Wakui, K; Yamagishi, A; Ohno, T; Sato, M; Imaizumi, S; Aihara, T; Fukushima,Y; Ohashi, H
AMERICAN JOURNALOF MEDICAL GENETICS, 68(1), 70-73, 1997

Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization
Aoyama, T; Wakui, K; Fukushima, Y; Orii, KO; Hashimoto, T
GENOMICS, 37(1), 144-145, 1996

Interstitial duplication 8q22-q24: Report of a case proven by FISH with mapped cosmid probes
Wakui, K; Ohashi, H; Yamagishi, A; Hamano, S; Nara, T; Ishikiriyama, S; Nakamura, Y; Fukushima, Y
AMERICAN JOURNAL OF MEDICAL GENETICS, 65(1), 36-39, 1996

TETRAMELIC MIRROR-IMAGE LIKE POLYDACTYLY AND DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(2-14)(P23.2-Q13)]
OHASHI, H; KIN, Y; IWASAKI, M; OHNO, T; SATO, M; IMAIZUMI, S; AIHARA, T; YAMAGISHI, A; WAKUI, K; FUKUSHIMA, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 57(4), 543-543, 1995

細胞遺伝学的検査結果を理解するために　−染色体核型記載の基本−
涌井敬子, Single work
メディカルドゥ, 104-110 Jan. 2020

臨床細胞遺伝学
2014

Three individuals with neurodevelopmental disorders caused by hetero-zygous protein- truncating variants in KMT5B.
Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho
The American Society of Human Genetics 68th Annual Meeting, 2018

日本人類遺伝学会

日本遺伝子診療学会

日本小児遺伝学会

日本遺伝カウンセリング学会

RNA-FISH法による１細胞発現解析とエピジェネティックメカニズムに関する研究
科学研究費補助金, 基盤研究（Ｃ）
2015 - 2017

相同染色体上の遺伝子領域間三次元核内配置と遺伝子発現に関する研究
科学研究費補助金, 挑戦的萌芽研究
2012 - 2013

構成的染色体異常部位近傍の候補遺伝子の核内３次元配置の変化と位置効果に関する研究
科学研究費補助金, 基盤研究（Ｃ）
2008 - 2010

均衡型染色体構造異常の転座切断点近傍の候補遺伝子の核内配置と位置効果に関する研究
科学研究費補助金, 基盤研究（Ｃ）
2006 - 2007

Genomic Variants and Gene expression

Nuclear Architecture of human genome and gene expression

molecular cytogenetic research of chromosomal structural abnormalities