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Journal of Human Genetics|October 5, 2019
Portable sequencer in the fight against infectious diseaseArthur Elia Mongan, Josef Sem Berth Tuda, Lucky Ronald RuntuweneJournal of Human Genetics|October 6, 2019
Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan ProjectKeiko Hikino, Takeshi Ozeki, Masaru Koido, et al.Journal of Human Genetics|January 24, 2021
Pregnant women's opinions toward prenatal pretest genetic counseling in JapanMiyuki Nishiyama, Kohei Ogawa, Fuyuki Hasegawa, et al.Journal of Human Genetics|January 31, 2021
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patientsParith Wongkittichote, Daniel J Wegner, Marwan S ShinawiJournal of Human Genetics|January 31, 2021
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermiaShoaib Nawaz, Muhammad Imran Ullah, Beenish Samreen Hamid, et al.Journal of Human Genetics|February 2, 2021
A Nepalese family with an REEP2 mutation: clinical and genetic studyHaitian Nan, Ryusuke Takaki, Takanori Hata, et al.Journal of Human Genetics|January 27, 2021
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 diseaseMonis Bilal Shamsi, Mohamed Saleh, Makki Almuntashri, et al.Journal of Human Genetics|January 29, 2021
Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48Maxat Zhabagin, Zhaxylyk Sabitov, Inkar Tazhigulova, et al.Journal of Human Genetics|January 5, 2022
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in JapanMasayuki Sekine, Takayuki Enomoto, Masami Arai, et al.Journal of Human Genetics|March 21, 2021
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathyAya Inoue-Shibui, Tetsuya Niihori, Michio Kobayashi, et al.Pageof 353