Research Output per year
Research Output
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, , 2020 Jan 1, In : Nature genetics. 52, 1, p. 21-26 6 p.Research output: Contribution to journal › Comment/debate
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 Jan 1, In : Endocrine journal. 67, 2, p. 211-218 8 p.Research output: Contribution to journal › Article
Open Access
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 Jan 1, (Accepted/In press) In : Journal of Pediatrics.Research output: Contribution to journal › Article
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 Jan 1, (Accepted/In press) In : Brain and Development.Research output: Contribution to journal › Article
Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy
Suzuki-Muromoto, S., Kosaki, R., Kosaki, K. & Kubota, M., 2020 Jan 1, (Accepted/In press) In : Brain and Development.Research output: Contribution to journal › Article
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
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
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
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
Open Access
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
Open Access
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
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 Jan 1, (Accepted/In press) In : Brain and Development.Research output: Contribution to journal › Article
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
Open Access
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
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
Open Access
1
Citation
(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
Open Access
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
Open Access
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
Open Access
2
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
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 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
Open Access
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
Open Access
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
7
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, , 2019 Feb 1, In : Journal of biochemistry. 165, 2, p. 139-158 20 p.Research output: Contribution to journal › Article
10
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
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 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.Research output: Contribution to journal › Article
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
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
Open Access
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
Open Access
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
Open Access
4
Citations
(Scopus)
Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: Cone dystrophy with normal funduscopic appearance
Japan Eye Genetics Consortium, 2019 Jan 1, In : Investigative Ophthalmology and Visual Science. 60, 10, p. 3432-3446 15 p.Research output: Contribution to journal › Article
Open Access
1
Citation
(Scopus)
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
1
Citation
(Scopus)
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
Open Access
1
Citation
(Scopus)
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., 2019 Mar, In : American Journal of Medical Genetics, Part A. 179, 3, p. 341-343 3 p.Research output: Contribution to journal › Article
1
Citation
(Scopus)
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 Aug, In : American Journal of Medical Genetics, Part A. 179, 8, p. 1628-1630 3 p.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 Nov 1, In : British Journal of Dermatology. 181, 5, p. 1104-1106 3 p.Research output: Contribution to journal › Letter
2018
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
2
Citations
(Scopus)
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
2
Citations
(Scopus)
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
23
Citations
(Scopus)
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
1
Citation
(Scopus)
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
1
Citation
(Scopus)
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
1
Citation
(Scopus)
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
2
Citations
(Scopus)
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
1
Citation
(Scopus)
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
2
Citations
(Scopus)