Center for Medical Genetics

Research Output

Research Output per year

1990 2020

• 269 Article
• 33 Letter
• 15 Review article
• 7 Comment/debate
• 2 More
  • 2 Chapter

Research Output per year

Research Output per year

Search results

• 2020

  A call for global action for rare diseases in Africa

  Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., Chipeta, J. & 30 others, Gavhed, D., Larsson, A., Stojiljkovic, M., Nordgren, A., Roldan, E. J. A., Taruscio, D., Wong-Rieger, D., Nowak, K., Bilkey, G. A., Easteal, S., Bowdin, S., Reichardt, J. K. V., Beltran, S., Kosaki, K., van Karnebeek, C. D. M., Gong, M., Shuyang, Z., Mehrian-Shai, R., Adams, D. R., Puri, R. D., Zhang, F., Pachter, N., Muenke, M., Nellaker, C., Gahl, W. A., Cederroth, H., Broley, S., Schoonen, M., Boycott, K. M. & Posada, M., 2020 Jan 1, In : Nature genetics. 52, 1, p. 21-26 6 p.

  Research output: Contribution to journal › Comment/debate › peer-review

• A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles

  Fukaishi, T., Minami, I., Masuda, S., Miyachi, Y., Tsujimoto, K., Izumiyama, H., Hashimoto, K., Yoshida, M., Takahashi, S., Kashimada, K., Morio, T., Kosaki, K., Maezawa, Y., Yokote, K., Yoshimoto, T. & Yamada, T., 2020, In : Endocrine journal. 67, 2, p. 211-218 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Generalized Lipodystrophy
  • metreleptin
  • Metabolome
  • Leptin
  • Serum

• A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

  Yokoi, T., Enomoto, Y., Uehara, T., Kosaki, K. & Kurosawa, K., 2020 Dec 1, In : Human Genome Variation. 7, 1, 22.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Xeroderma Pigmentosum
  • Whole Exome Sequencing
  • Skin
  • Genetic Testing
  • Skin Neoplasms

• ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

  Sasaki, M., Sumitomo, N., Shimizu-Motohashi, Y., Takeshita, E., Kurosawa, K., Kosaki, K., Iwama, K., Mizuguchi, T. & Matsumoto, N., 2020, (Accepted/In press) In : Developmental Medicine and Child Neurology.

  Research output: Contribution to journal › Article › peer-review

  • Cerebellar Ataxia
  • Child
  • Atrophy
  • Whole Exome Sequencing
  • Mutation
  1 Citation (Scopus)

• Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

  Uehara, T., Yamada, M., Umetsu, S., Nittono, H., Suzuki, H., Fujisawa, T., Takenouchi, T., Inui, A. & Kosaki, K., 2020 Jun, In : Journal of Pediatrics. 221, p. 251-254 4 p.

  Research output: Contribution to journal › Article › peer-review

  • lipolysis-stimulated receptor
  • Intrahepatic Cholestasis
  • Lipoprotein Receptors
  • Tight Junctions
  • Cholestasis
  1 Citation (Scopus)

• BioHackathon 2015: Semantics of data for life sciences and reproducible research

  Katayama, T., Vos, R. A., Mishima, H., Kawano, S., Kawashima, S., Kim, J. D., Moriya, Y., Tokimatsu, T., Yamaguchi, A., Yamamoto, Y., Wu, H., Amstutz, P., Antezana, E., Aoki, N. P., Arakawa, K., Bolleman, J. T., Bolton, E., Bonnal, R. J. P., Bono, H., Burger, K. & 57 others, Chiba, H., Cohen, K. B., Deutsch, E. W., Fernández-Breis, J. T., Fu, G., Fujisawa, T., Fukushima, A., García, A., Goto, N., Groza, T., Hercus, C., Hoehndorf, R., Itaya, K., Juty, N., Kawashima, T., Kim, J. H., Kinjo, A. R., Kotera, M., Kozaki, K., Kumagai, S., Kushida, T., Lütteke, T., Matsubara, M., Miyamoto, J., Mohsen, A., Mori, H., Naito, Y., Nakazato, T., Nguyen-Xuan, J., Nishida, K., Nishida, N., Nishide, H., Ogishima, S., Ohta, T., Okuda, S., Paten, B., Perret, J. L., Prathipati, P., Prins, P., Queralt-Rosinach, N., Shinmachi, D., Suzuki, S., Tabata, T., Takatsuki, T., Taylor, K., Thompson, M., Uchiyama, I., Vieira, B., Wei, C. H., Wilkinson, M., Yamada, I., Yamanaka, R., Yoshitake, K., Yoshizawa, A. C., Dumontier, M., Kosaki, K. & Takagi, T., 2020, In : F1000Research. 9, 136.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Data Science
  • Biological Science Disciplines
  • Reusability
  • Semantics
  • Glycomics
  1 Citation (Scopus)

• Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

  Murakami, H., Uehara, T., Tsurusaki, Y., Enomoto, Y., Kuroda, Y., Aida, N., Kosaki, K. & Kurosawa, K., 2020 Mar, In : Brain and Development. 42, 3, p. 289-292 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Angelman Syndrome
  • Uniparental Disomy
  • Chromosomes, Human, Pair 15
  • Whole Exome Sequencing
  • Phenotype

• Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

  Japan Eye Genetics Consortium, 2020 Dec 1, In : Scientific reports. 10, 1, 9531.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Association Studies
  • Cone-Rod Dystrophies
  • Phenotype
  • Genotype
  • Late Onset Disorders
  3 Citations (Scopus)

• Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

  Kosaki, R., Kubota, M., Uehara, T., Suzuki, H., Takenouchi, T. & Kosaki, K., 2020 Jul 1, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1601-1607 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Exome
  • Economics
  • Health
  • Genes
  • Computational Biology

• Cowden syndrome complicated by schizophrenia: A first clinical report

  Kobayashi, Y., Takeda, T., Kunitomi, H., Ueki, A., Misu, K., Kowashi, A., Takahashi, T., Anko, M., Watanabe, K., Masuda, K., Uchida, T., Tominaga, E., Banno, K., Kosaki, K. & Aoki, D., 2020 Aug, In : European Journal of Medical Genetics. 63, 8, 103959.

  Research output: Contribution to journal › Article › peer-review

  • Multiple Hamartoma Syndrome
  • Schizophrenia
  • Megalencephaly
  • Hallucinations
  • Endometrial Neoplasms

• De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

  Kondo, Y., Aoyama, K., Suzuki, H., Hattori, A., Hori, I., Ito, K., Yoshida, A., Koroki, M., Ueda, K., Kosaki, K. & Saitoh, S., 2020 Dec 1, In : Human Genome Variation. 7, 1, 19.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • 4-nitrophenylphosphorylcholine
  • Haploinsufficiency
  • Phenotype
  • Hand
  • Audition

• Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

  Yamada, M., Shiraishi, Y., Uehara, T., Suzuki, H., Takenouchi, T., Abe-Hatano, C., Kurosawa, K. & Kosaki, K., 2020 Sep 1, In : Molecular Genetics and Genomic Medicine. 8, 9, e1364.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Craniosynostoses
  • Exome
  • Cleft Palate
  • Gene Expression Profiling
  • Intellectual Disability

• Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca

  Oiso, N., Kubo, A., Shimizu, A., Suzuki, H., Kosaki, K., Chikugo, T., Nakabayashi, K., Hata, K., Yanagihara, S., Ishikawa, O., Matsubara, Y., Amagai, M. & Kawada, A., 2020 Sep 1, In : International Journal of Dermatology. 59, 9, p. e334-e336

  Research output: Contribution to journal › Letter › peer-review

• Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

  Suzuki-Muromoto, S., Kosaki, R., Kosaki, K. & Kubota, M., 2020 Mar, In : Brain and Development. 42, 3, p. 293-297 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Migraine with Aura
  • Population Biological Variation
  • Carbamazepine
  • Mutation
  • Spontaneous Remission
  3 Citations (Scopus)

• Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

  JEGC study group, 2020 Dec 1, In : Scientific reports. 10, 1, 5497.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Retinal Diseases
  • Gene Frequency
  • Cone-Rod Dystrophies
  • Leber Congenital Amaurosis
  • Whole Exome Sequencing
  2 Citations (Scopus)

• Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism

  Sakaguchi, Y., Uehara, T., Sasaki, M., Fujimura, K., Kishi, K., Kosaki, K. & Takenouchi, T., 2020 Apr, In : European Journal of Medical Genetics. 63, 4, 103803.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Melanocytic nevus syndrome
  • Hereditary Spastic Paraplegia
  • Mosaicism
  • Neurocutaneous Syndromes
  • Mutation

• Hypercoagulopathy Associated with Uniparental Disomy of Chromosome 2

  Takenouchi, T., Yamada, T., Kashiwagi, Y., Yamaguchi, Y., Uehara, T. & Kosaki, K., 2020 Jul 1, In : Journal of Pediatric Hematology/Oncology. 42, 5, p. 370-371 2 p.

  Research output: Contribution to journal › Letter › peer-review

• Improvement of opsoclonus after congenital cataract surgery in an infant

  Yamaguchi, H., Morisada, N., Maruyama, A., Kosaki, K. & Nomura, K., 2020 Jan 1, In : Pediatrics International. 62, 1, p. 108-109 2 p.

  Research output: Contribution to journal › Article › peer-review

• Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants

  Li, L., Fong, C. Y., Tay, C. G., Tae, S. K., Suzuki, H., Kosaki, K. & Thong, M. K., 2020 Jan, In : Journal of Clinical Neuroscience. 71, p. 289-292 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Neuroaxonal Dystrophies
  • Auditory neuropathy
  • Siblings
  • Atrophy
  • Muscle Hypotonia

• Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

  Yamada, M., Sokoda, T., Uehara, T., Suzuki, H., Takenouchi, T., Yagihashi, T., Maruo, Y. & Kosaki, K., 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

  Research output: Contribution to journal › Letter › peer-review

• Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome

  Fujisawa, T., Aizawa, Y., Katsumata, Y., Kimura, K., Hashimoto, K., Yamashita, T., Miyama, H., Kimura, T., Kosaki, K., Takatsuki, S., Shimizu, W. & Fukuda, K., 2020 Feb 1, In : journal of arrhythmia. 36, 1, p. 193-196 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mexiletine
  • Long QT Syndrome
  • Pedigree
  • Syncope
  • Torsades de Pointes

• Novel ARX mutation identified in infantile spasm syndrome patient

  Takeshita, Y., Ohto, T., Enokizono, T., Tanaka, M., Suzuki, H., Fukushima, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2020 Dec 1, In : Human Genome Variation. 7, 1, 9.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Infantile Spasms
  • Homeobox Genes
  • Genes
  • Brain
  • Drug therapy

• Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

  Suzuki, H., Yamada, M., Uehara, T., Takenouchi, T. & Kosaki, K., 2020 Nov 1, In : American Journal of Medical Genetics, Part A. 182, 11, p. 2529-2532 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Exome
  • Nucleotides
  • Dual (Psychiatry) Diagnosis
  • Base Pairing
  • Rare Diseases

• Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants

  Uehara, T., Abe, K., Oginuma, M., Ishitani, S., Yoshihashi, H., Okamoto, N., Takenouchi, T., Kosaki, K. & Ishitani, T., 2020 Dec 1, In : Scientific reports. 10, 1, 17575.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cyclin-Dependent Kinase 8
  • Zebrafish
  • Phosphotransferases
  • In Vitro Techniques
  • human CDK8 protein

• Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty

  Ko, S., Komuro, J., Katsumata, Y., Shiraishi, Y., Kawakami, T., Yamada, Y., Yuasa, S., Kono, T., Kosaki, K. & Fukuda, K., 2020, In : Pulmonary Circulation. 10, 4

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pulmonary Artery Stenosis
  • Noonan Syndrome
  • Pulmonary Valve Stenosis
  • Balloon Angioplasty
  • Lung

• Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension

  Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Isobe, S., Katsumata, Y., Goto, S., Kanekura, K., Yamada, Y., Moriyama, H., Kitakata, H., Endo, J., Yuasa, S., Arai, Y., Hirose, N., Satoh, T., Hakamata, Y., Sano, M., Gamou, S. & 2 others, Kosaki, K. & Fukuda, K., 2020 Feb, In : Journal of Heart and Lung Transplantation. 39, 2, p. 103-112 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Pulmonary Hypertension
  • Familial Primary Pulmonary Hypertension
  • Lung Transplantation
  • Bone and Bones
  • Proteins
  4 Citations (Scopus)

• Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation

  Fujita, H., Sasaki, T., Miyamoto, T., Akutsu, S. N., Sato, S., Mori, T., Nakabayashi, K., Hata, K., Suzuki, H., Kosaki, K., Matsuura, S., Matsubara, Y., Amagai, M. & Kubo, A., 2020, (Accepted/In press) In : Aging Cell.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • M Phase Cell Cycle Checkpoints
  • Premature Aging
  • Chromosomal Instability
  • Aneuploidy
  • Mutation

• Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome

  Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T. & Kosaki, K., 2020 Nov 1, In : American Journal of Medical Genetics, Part A. 182, 11, p. 2709-2714 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Exons
  • Urogenital Abnormalities
  • Nonsense Mediated mRNA Decay
  • Coloboma
  • RNA Splicing Factors

• Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

  Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Inui, A., Ikemiyagi, M., Kamimaki, I. & Kosaki, K., 2020 Jul 1, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1631-1636 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Shwachman syndrome
  • Pseudogenes
  • Exome
  • Alleles
  • Gene Conversion

• The Undiagnosed Diseases Network International: Five years and more!

  Taruscio, D., Baynam, G., Cederroth, H., Groft, S. C., Klee, E. W., Kosaki, K., Lasko, P., Melegh, B., Riess, O., Salvatore, M. & Gahl, W. A., 2020 Apr, In : Molecular Genetics and Metabolism. 129, 4, p. 243-254 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Rare Diseases
  • Foster Home Care
  • Patient Participation
  • Practice (Psychology)
  • Biomedical Research
  1 Citation (Scopus)

• Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

  Murakami, H., Tsurusaki, Y., Enomoto, K., Kuroda, Y., Yokoi, T., Furuya, N., Yoshihashi, H., Minatogawa, M., Abe-Hatano, C., Ohashi, I., Nishimura, N., Kumaki, T., Enomoto, Y., Naruto, T., Iwasaki, F., Harada, N., Ishikawa, A., Kawame, H., Sameshima, K., Yamaguchi, Y. & 12 others, Kobayashi, M., Tominaga, M., Ishikiriyama, S., Tanaka, T., Suzumura, H., Ninomiya, S., Kondo, A., Kaname, T., Kosaki, K., Masuno, M., Kuroki, Y. & Kurosawa, K., 2020 Oct 1, In : American Journal of Medical Genetics, Part A. 182, 10, p. 2333-2344 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Kabuki syndrome
  • Genetic Testing
  • Lysine
  • Genotype
  • Phenotype

• Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan

  Sunaga, Y., Muramatsu, K., Kosaki, K., Sugai, K., Mizuno, T., Kouno, M. & Tashiro, M., 2020 Aug, In : Brain and Development. 42, 7, p. 529-533 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Vesicle-Associated Membrane Protein 2
  • SNARE Proteins
  • Japan
  • Infantile Spasms
  • Muscle Hypotonia
  1 Citation (Scopus)
• 2019

  A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

  Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K. & Takada, H., 2019 Nov 1, In : Clinical Case Reports. 7, 11, p. 2059-2063 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cleft Lip
  • Cleft Palate
  • Autism Spectrum Disorder
  • Exons
  • Mutation

• A case of familial episodic pain syndrome with SCN11A mutation treated prophylactically with sodium channel blockers

  Tanaka, F., Goto, T., Ogawa, E., Moriyama, S., Ito, A., Kurosawa, K. & Kosaki, K., 2019 Jan 1, In : NO TO HATTATSU. 51, 4, p. 266-270 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Sodium Channel Blockers
  • Pain
  • Mutation
  • Somatoform Disorders
  • Lamotrigine
  1 Citation (Scopus)

• Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

  Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019, In : Endocrine journal. 66, 10, p. 853-857 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Growth Hormone-Secreting Pituitary Adenoma
  • Acromegaly
  • Neurofibromatosis 1
  • Neurofibromatosis 1 Genes
  • Follicular Adenocarcinoma
  2 Citations (Scopus)

• A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

  Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 Dec 1, In : Human Genome Variation. 6, 1, 25.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Megalencephaly
  • Tensins
  • Macrocephaly Autism Syndrome
  • Phosphoric Monoester Hydrolases
  • Multiple Hamartoma Syndrome
  3 Citations (Scopus)

• Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)

  Kato, K., Miya, F., Hori, I., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2019 Jul 1, In : Journal of Human Genetics. 64, 7, p. 701-702 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Periventricular Nodular Heterotopia
  • Polymicrogyria
  • Human Genetics
  • Cleft Palate
  • Missense Mutation

• Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes

  Kubo, A., Sasaki, T., Suzuki, H., Shiohama, A., Aoki, S., Sato, S., Fujita, H., Ono, N., Umegaki-Arao, N., Kawai, T., Nakabayashi, K., Hata, K., Yamada, D., Matsubara, Y., Kosaki, K. & Amagai, M., 2019 Dec, In : Journal of Investigative Dermatology. 139, 12, p. 2458-2466.e9

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Keratinocytes
  • Porokeratosis
  • Heterozygote
  • Genetic Recombination
  • Skin
  5 Citations (Scopus)

• CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

  Uehara, T., Takenouchi, T., Yamaguchi, Y., Daimon, Y., Suzuki, H., Sakaguchi, Y. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.

  Research output: Contribution to journal › Article › peer-review

  • Phenotype
  • Carbon
  • Genes
  • Intellectual Disability
  • Micrognathism
  1 Citation (Scopus)

• CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

  Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Dec 1, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2506-2509 4 p.

  Research output: Contribution to journal › Letter › peer-review
  2 Citations (Scopus)

• De novo NSF mutations cause early infantile epileptic encephalopathy

  Suzuki, H., Yoshida, T., Morisada, N., Uehara, T., Kosaki, K., Sato, K., Matsubara, K., Takano-Shimizu, T. & Takenouchi, T., 2019 Nov 1, In : Annals of Clinical and Translational Neurology. 6, 11, p. 2334-2339 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Epileptic Encephalopathy, Early Infantile, 1
  • N-Ethylmaleimide-Sensitive Proteins
  • Mutation
  • Transport Vesicles
  • Eye

• Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

  Yamada, M., Suzuki, H., Shiraishi, Y. & Kosaki, K., 2019 Dec, In : Molecular Genetics and Metabolism Reports. 21, 100531.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Exome
  • Transcriptome
  • Genes
  • Silent Mutation
  • RNA Splice Sites
  3 Citations (Scopus)

• Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion

  Hosaka, S., Kobayashi, C., Saito, H., Imai-Saito, A., Suzuki, R., Iwabuchi, A., Kato, Y., Jimbo, T., Watanabe, N., Onodera, M., Imadome, K. I., Masumoto, K., Nanmoku, T., Fukushima, T., Kosaki, K., Sumazaki, R. & Takada, H., 2019 Jun, In : Pediatric Transplantation. 23, 4, e13424.

  Research output: Contribution to journal › Article › peer-review

  • Lymphocyte Transfusion
  • DiGeorge Syndrome
  • Epstein-Barr Virus Infections
  • Blood Transfusion
  • Immunity

• Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

  Mishima, H., Suzuki, H., Doi, M., Miyazaki, M., Watanabe, S., Matsumoto, T., Morifuji, K., Moriuchi, H., Yoshiura, K. I., Kondoh, T. & Kosaki, K., 2019 Aug 1, In : Journal of Human Genetics. 64, 8, p. 789-794 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Japan
  • Down Syndrome
  • Deep Learning
  • Facial Recognition
  • Newborn Infant
  10 Citations (Scopus)

• Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare

  Yasuda, J., Kinoshita, K., Katsuoka, F., Danjoh, I., Sakurai-Yageta, M., Motoike, I. N., Kuroki, Y., Saito, S., Kojima, K., Shirota, M., Saigusa, D., Otsuki, A., Kawashima, J., Yamaguchi-Kabata, Y., Tadaka, S., Aoki, Y., Mimori, T., Kumada, K., Inoue, J., Makino, S. & 31 others, Kuriki, M., Fuse, N., Koshiba, S., Tanabe, O., Nagasaki, M., Tamiya, G., Shimizu, R., Takai-Igarashi, T., Ogishima, S., Hozawa, A., Kuriyama, S., Sugawara, J., Tsuboi, A., Kiyomoto, H., Ishii, T., Tomita, H., Minegishi, N., Suzuki, Y., Suzuki, K., Kawame, H., Tanaka, H., Taki, Y., Yaegashi, N., Kure, S., Nagami, F., Kosaki, K., Sutoh, Y., Hachiya, T., Shimizu, A., Sasaki, M. & Yamamoto, M., 2019 Feb 1, In : Journal of biochemistry. 165, 2, p. 139-158 20 p.

  Research output: Contribution to journal › Article › peer-review

  • Genes
  • Genome
  • Metagenomics
  • Delivery of Health Care
  • Polymorphism
  14 Citations (Scopus)

• IFT172 as the 19th gene causative of oral-facial-digital syndrome

  Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M. & Kosaki, K., 2019 Dec 1, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2510-2513 4 p.

  Research output: Contribution to journal › Letter › peer-review

• Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta

  Takenouchi, T., Okuno, H. & Kosaki, K., 2019 Dec 1, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 4, p. 650-657 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Platelet-Derived Growth Factor beta Receptor
  • Myofibroma
  • Penttinen-Aula syndrome
  • White Matter
  • Arachnoid Cysts
  1 Citation (Scopus)

• Medical genetics and genomic medicine in Japan

  Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 Jun, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 2, p. 166-169 4 p.

  Research output: Contribution to journal › Review article › peer-review

  • Medical Genetics
  • Japan
  • Medicine
  • Rare Diseases
  • Research Support
  1 Citation (Scopus)

• MGeND: an integrated database for Japanese clinical and genomic information

  Kamada, M., Nakatsui, M., Kojima, R., Nohara, S., Uchino, E., Tanishima, S., Sugiyama, M., Kosaki, K., Tokunaga, K., Mizokami, M. & Okuno, Y., 2019 Dec 1, In : Human Genome Variation. 6, 1, 53.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genomics
  • Japan
  • Genome-Wide Association Study
  • Databases
  • Disease Susceptibility

• Mutations of RAS genes in endometrial polyps

  Takeda, T., Banno, K., Kobayashi, Y., Adachi, M., Yanokura, M., Tominaga, E., Kosaki, K. & Aoki, D., 2019, In : Oncology reports. 42, 6, p. 2303-2308 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Polyps
  • Mutation
  • Genes
  • Adenomyoma
  • Laser Capture Microdissection