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Human Genome Variation|February 19, 2019
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type ISatomi Okano, Yoshio Makita, Akihiro Katada, et al.
Congenital Anomalies|May 20, 2026
Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous IndividualsYukiko Kuroda, Koki Nagai, Yoko Saito, et al.
Human Genome Variation|April 16, 2016
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndromeTomohiro Kohmoto, Takuya Naruto, Haruka Kobayashi, et al.
Human Genome Variation|February 2, 2017
Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detectionNobuhiko Okamoto, Miki Watanabe, Takuya Naruto, et al.
Microbes and Infection|April 9, 2011
Selection of HLA-B57-associated Gag A146P mutant by HLA-B∗48:01-restricted Gag140-147-specific CTLs in chronically HIV-1-infected JapaneseTakuya Naruto, Hayato Murakoshi, Takayuki Chikata, et al.
International Journal of Hematology|September 4, 2009
Suppressed neutrophil function in children with acute lymphoblastic leukemiaFumiko Tanaka, Hiroaki Goto, Tomoko Yokosuka, et al.
American Journal of Medical Genetics. Part A|May 8, 2014
Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsyYukiko Kuroda, Ikuko Ohashi, Toshiyuki Saito, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2Yukiko Kuroda, Ikuko Ohashi, Toshiyuki Saito, et al.
Congenital Anomalies|March 10, 2018
Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|January 20, 2020
An efficient genetic test flow for multiple congenital anomalies and intellectual disabilityTakayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, et al.
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