小崎 健次郎

論文

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

  Lizhu Yang, Kaoru Fujinami, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Mineo Kondo, Atsushi Mizota, Nobuhisa Naoi, Kei Shinoda, Shuhei Kameya …

  Scientific Reports 10(1) 2020年12月
• Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

  Yu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, Takaaki Hayashi, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Gavin Arno, Nikolas Pontikos, Lizhu Yang …

  Scientific Reports 10(1) 2020年12月
• 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

  Human Genome Variation 7(1) 22-22 2020年12月1日
• Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan

  Yasuo Sunaga, Kazuhiro Muramatsu, Kenjirou Kosaki, Kenji Sugai, Takahisa Mizuno, Miyuki Kouno, Masahiko Tashiro

  Brain and Development 42(7) 529-533 2020年8月
• 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 …

  European Journal of Medical Genetics 63(8) 103959-103959 2020年8月
• 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.

  Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe-Hatano, Kenji Kurosawa, Kenjiro Kosaki

  Molecular genetics & genomic medicine 8(9) e1364 2020年6月26日
• 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 …

  Molecular Genetics and Metabolism 129(4) 243-254 2020年4月
• Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

  Suzuki-Muromoto S, Kosaki R, Kosaki K, Kubota M

  Brain and Development 42(3) 293-297 2020年3月
• 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 …

  Endocrine Journal 67(2) 211-218 2020年
• 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

  Journal of Clinical Neuroscience 71 289-292 2020年1月
• Improvement of opsoclonus after congenital cataract surgery in an infant

  Hiroshi Yamaguchi, Naoya Morisada, Azusa Maruyama, Kenjiro Kosaki, Koji Nomura

  Pediatrics International 62(1) 108-109 2020年1月
• De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.

  Yuto Kondo, Kohei Aoyama, Hisato Suzuki, Ayako Hattori, Ikumi Hori, Koichi Ito, Aya Yoshida, Mari Koroki, Kentaro Ueda, Kenjiro Kosaki …

  Human genome variation 7(1) 19-19 2020年
• Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders.

  Mamiko Yamada, Hisato Suzuki, Yuichi Shiraishi, Kenjiro Kosaki

  Molecular genetics and metabolism reports 21 100531-100531 2019年12月
• Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta

  Takenouchi T, Okuno H, Kosaki K

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics 181(4) 650-657 2019年12月1日
• Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i(6)A37 and ms(2)i(6)A37 modifications in tRNAs from blood and urine samples

  Toshiki Takenouchi, Fan-Yan Wei, Hisato Suzuki, Tomoko Uehara, Takao Takahashi, Yasushi Okazaki, Kenjiro Kosaki, Kazuhito Tomizawa

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179(8) 1609-1614 2019年8月
• Medical genetics and genomic medicine in Japan.

  Hisato Suzuki, Tomoko Watanabe, Tomoko Uehara, Kenjiro Kosaki

  American journal of medical genetics. Part C, Seminars in medical genetics 181(2) 166-169 2019年6月
• SATB2-associated syndrome in patients from Japan: Linguistic profiles

  Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Hiroshi Yoshihashi, Hiroshi Suzumura, Seiji Mizuno, Kenjiro Kosaki

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179(6) 896-899 2019年6月
• 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 …

  Pediatric Transplantation 23(4) e13424 2019年6月
• 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 …

  Hum Genome Var. 2019年5月
• Sweat Retention Anhidrosis Associated with Tubular Aggregate Myopathy.

  Ishitsuka Y, Inoue S, Furuta JI, Koguchi-Yoshioka H, Nakamura Y, Watanabe R, Okiyama N, Fujisawa Y, Enokizono T, Hiroko F …

  Br J Dermatol. 2019年5月