Research Output per year
Research Output 1990 2019
- 1 - 50 out of 266 results
- Publication Year, Title (descending)
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 Jan 1, (Accepted/In press) In : Clinical Case Reports.Research output: Contribution to journal › Article
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 Jan 1, In : Endocrine journal. 66, 10, p. 853-857 5 p.Research output: Contribution to journal › Article
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
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 Jan 1, In : Journal of Human Genetics.Research output: Contribution to journal › Comment/debate
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.e9Research output: Contribution to journal › Article
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
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features
Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Letter
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
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
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 Jan 1, In : Pediatric Transplantation. e13424.Research output: Contribution to journal › Article
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
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, , 2019 Feb 1, In : Journal of biochemistry. 165, 2, p. 139-158 20 p.Research output: Contribution to journal › Article
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 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Letter
Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2A6 variants
Li, L., Fong, C. Y., Tay, C. G., Tae, S. K., Suzuki, H., Kosaki, K. & Thong, M. K., 2019 Jan 1, (Accepted/In press) In : Journal of Clinical Neuroscience.Research output: Contribution to journal › Article
Medical genetics and genomic medicine in Japan
Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 Jun 1, 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
Mutations of RAS genes in endometrial polyps
Takeda, T., Banno, K., Kobayashi, Y., Adachi, M., Yanokura, M., Tominaga, E., Kosaki, K. & Aoki, D., 2019 Jan 1, In : Oncology reports. 42, 6, p. 2303-2308 6 p.Research output: Contribution to journal › Article
Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6A37 and ms2i6A37 modifications in tRNAs from blood and urine samples
Takenouchi, T., Wei, F. Y., Suzuki, H., Uehara, T., Takahashi, T., Okazaki, Y., Kosaki, K. & Tomizawa, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model
Uehara, T., Suzuki, H., Okamoto, N., Kondoh, T., Ahmad, A., O’Connor, B. C., Yoshina, S., Mitani, S., Kosaki, K. & Takenouchi, T., 2019 Dec 1, In : Scientific reports. 9, 1, 4418.Research output: Contribution to journal › Article
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, , 2019 Jan 1, (Accepted/In press) In : Journal of Heart and Lung Transplantation.Research output: Contribution to journal › Article
Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation
Yamagata, S., Hattori, A., Miya, F., Kubota, Y., Endo, T., Negishi, Y., Nakamura, Y., Tsunoda, T., Kosaki, K. & Saitoh, S., 2019 Jan 1, In : No To Hattatsu. 51, 1, p. 29-32 4 p.Research output: Contribution to journal › Article
SATB2-associated syndrome in patients from Japan: Linguistic profiles
Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Review article
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers
Suzuki, H., Takenouchi, T., Uehara, T., Takasago, S., Ihara, S., Yoshihashi, H. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Sweat retention anhidrosis associated with tubular aggregate myopathy
Ishitsuka, Y., Inoue, S., Furuta, J., Koguchi-Yoshioka, H., Nakamura, Y., Watanabe, R., Okiyama, N., Fujisawa, Y., Enokizono, T., Fukushima, H., Suzuki, H., Nishino, I., Kosaki, K. & Fujimoto, M., 2019 Jan 1, (Accepted/In press) In : British Journal of Dermatology.Research output: Contribution to journal › Letter
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution
Takenouchi, T., Sakamoto, Y., Sato, H., Suzuki, H., Uehara, T., Ohsone, Y. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome
Hori, I., Miya, F., Negishi, Y., Hattori, A., Ando, N., Boroevich, K. A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2018 Jun 15, (Accepted/In press) In : Journal of Human Genetics. p. 1-7 7 p.Research output: Contribution to journal › Article
A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin
Takenouchi, T., Shimada, H., Uehara, T., Kanai, Y., Takahashi, T. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.Research output: Contribution to journal › Article
Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
Okada, Y., Momozawa, Y., Sakaue, S., Kanai, M., Ishigaki, K., Akiyama, M., Kishikawa, T., Arai, Y., Sasaki, T., Kosaki, K., Suematsu, M., Matsuda, K., Yamamoto, K., Kubo, M., Hirose, N. & Kamatani, Y., 2018 Dec 1, In : Nature Communications. 9, 1, 1631.Research output: Contribution to journal › Article
Development of monomorphic ventricular tachycardia in a patient with fever-induced Brugada syndrome
Sato, Y., Aizawa, Y., Fujisawa, T., Ito, S., Katano, K., Fuse, N., Miyabe, A., Osada, K., Ishihara, R., Tosaka, A., Tamamura, T., Mizumura, T., Sugimura, Y., Nakajima, K., Katsumata, Y., Nishiyama, T., Kimura, T., Furukawa, Y., Takatsuki, S., Kosaki, K. & 1 others, , 2018 Jan 1, In : Journal of Arrhythmia. 34, 4, p. 465-468 4 p.Research output: Contribution to journal › Article
Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation
Kawaguchi, T., Yoshida, T., Hirahashi, J., Uehara, T., Takenouchi, T., Kosaki, K., Itoh, H. & Hayashi, M., 2018 Jul 10, (Accepted/In press) In : Nephron. p. 1-5 5 p.Research output: Contribution to journal › Article
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder
Sakaguchi, A., Yamashita, Y., Ishii, T., Uehara, T., Kosaki, K., Takahashi, T. & Takenouchi, T., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.Research output: Contribution to journal › Article
Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension
Suzuki, H., Kataoka, M., Hiraide, T., Aimi, Y., Yamada, Y., Katsumata, Y., Chiba, T., Kanekura, K., Isobe, S., Sato, Y., Satoh, T., Gamou, S., Fukuda, K. & Kosaki, K., 2018 Dec 1, In : Circulation. Genomic and precision medicine. 11, 12, p. e002317Research output: Contribution to journal › Letter
Growth pattern of Rahman syndrome
Takenouchi, T., Uehara, T., Kosaki, K. & Mizuno, S., 2018 Mar 1, In : American Journal of Medical Genetics, Part A. 176, 3, p. 712-714 3 p.Research output: Contribution to journal › Article
Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis
Sakaguchi, Y., Uehara, T., Suzuki, H., Sakamoto, Y., Fujiwara, M., Kosaki, K. & Takenouchi, T., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
Shigemizu, D., Miya, F., Akiyama, S., Okuda, S., Boroevich, K. A., Fujimoto, A., Nakagawa, H., Ozaki, K., Niida, S., Kanemura, Y., Okamoto, N., Saitoh, S., Kato, M., Yamasaki, M., Matsunaga, T., Mutai, H., Kosaki, K. & Tsunoda, T., 2018 Dec 1, In : Scientific Reports. 8, 1, 5608.Research output: Contribution to journal › Article
Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1
Yoshida, Y., Ehara, Y., Kosaki, K. & Yamamoto, O., 2018 Mar 1, In : Journal of Dermatology. 45, 3, p. 363-364 2 p.Research output: Contribution to journal › Comment/debate
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
Kato, K., Miya, F., Hamada, N., Negishi, Y., Narumi-Kishimoto, Y., Ozawa, H., Ito, H., Hori, I., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Kanemura, Y., Kosaki, K., Takahashi, Y., Nagata, K. I. & Saitoh, S., 2018 Jan 1, (Accepted/In press) In : Journal of Medical Genetics.Research output: Contribution to journal › Article
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis (Scientific Reports (2018) DOI: 10.1038/s41598-018-23978-z)
Shigemizu, D., Miya, F., Akiyama, S., Okuda, S., Boroevich, K. A., Fujimoto, A., Nakagawa, H., Ozaki, K., Niida, S., Kanemura, Y., Okamoto, N., Saitoh, S., Kato, M., Yamasaki, M., Matsunaga, T., Mutai, H., Kosaki, K. & Tsunoda, T., 2018 Dec 1, In : Scientific Reports. 8, 1, 10367.Research output: Contribution to journal › Comment/debate
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects
Uehara, T., Takenouchi, T., Kosaki, R., Kurosawa, K., Mizuno, S. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.Research output: Contribution to journal › Article
Schuurs-Hoeijmakers syndrome in two patients from Japan
Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A. e9.Research output: Contribution to journal › Article
Sex-dependent phenotypic variability of an SCN5a mutation: Brugada syndrome and sick sinus syndrome
Aizawa, Y., Fujisawa, T., Katsumata, Y., Kosaka, S., Kunitomi, A., Ohno, S., Sonoda, K., Hayashi, H., Hojo, R., Fukamizu, S., Nagase, S., Ito, S., Nakajima, K., Nishiyama, T., Kimura, T., Kurita, Y., Furukawa, Y., Takatsuki, S., Ogawa, S., Nakazato, Y. & 4 others, , 2018 Sep 1, In : Journal of the American Heart Association. 7, 18, e009387.Research output: Contribution to journal › Article
SOX17 mutations in Japanese patients with pulmonary arterial hypertension
Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Kanekura, K., Satoh, T., Fukuda, K., Gamou, S. & Kosaki, K., 2018 Nov 1, In : American Journal of Respiratory and Critical Care Medicine. 198, 9, p. 1231-1233 3 p.Research output: Contribution to journal › Letter
Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism
Yasuhara, J., Omori, S., Maeda, J., Nakagawa, N., Kamada, M., Kosaki, K., Aeba, R. & Yamagishi, H., 2018 May 1, In : Canadian Journal of Cardiology. 34, 5, p. 690.e5-690.e8Research output: Contribution to journal › Article
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association
Uehara, T., Hosogaya, N., Matsuo, N. & Kosaki, K., 2018 Jul 1, In : American Journal of Medical Genetics, Part A. 176, 7, p. 1662-1666 5 p.Research output: Contribution to journal › Article
Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model
Saito, A., Ooki, A., Nakamura, T., Onodera, S., Hayashi, K., Hasegawa, D., Okudaira, T., Watanabe, K., Kato, H., Onda, T., Watanabe, A., Kosaki, K., Nishimura, K., Ohtaka, M., Nakanishi, M., Sakamoto, T., Yamaguchi, A., Sueishi, K. & Azuma, T., 2018 Jan 22, In : Stem Cell Research and Therapy. 9, 1, 12.Research output: Contribution to journal › Article
The Rare Disease Bank of Japan: establishment, current status and future challenges
Tada, M., Hirata, M., Sasaki, M., Sakate, R., Kohara, A., Takahashi, I., Kameoka, Y., Masui, T. & Matsuyama, A., 2018 Apr 2, (Accepted/In press) In : Human Cell. p. 1-6 6 p.Research output: Contribution to journal › Article
Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation
Uehara, T., Ishige, T., Hattori, S., Yoshihashi, H., Funato, M., Yamaguchi, Y., Takenouchi, T. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval
Kosaki, R., Ono, H., Terashima, H. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells
Harigai, R., Sakai, S., Nobusue, H., Hirose, C., Sampetrean, O., Minami, N., Hata, Y., Kasama, T., Hirose, T., Takenouchi, T., Kosaki, K., Kishi, K., Saya, H. & Arima, Y., 2018 Dec 1, In : Scientific Reports. 8, 1, 6069.Research output: Contribution to journal › Article
Wilms tumor and congenital malformation syndromes
Uehara, T. & Kosaki, K., 2018 Oct 1, In : Japanese Journal of Clinical Urology. 72, 11, p. 924-926 3 p.Research output: Contribution to journal › Article
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
Negishi, Y., Miya, F., Hattori, A., Johmura, Y., Nakagawa, M., Ando, N., Hori, I., Togawa, T., Aoyama, K., Ohashi, K., Fukumura, S., Mizuno, S., Umemura, A., Kishimoto, Y., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & 2 others, , 2017 Jan 13, In : BMC Medical Genetics. 18, 1, 4.Research output: Contribution to journal › Article