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Journal of Human Genetics|January 16, 2023
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndromeHideo Kaneko, Chizuru Kawase, Junko Seki, et al.Journal of Human Genetics|July 2, 2021
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature reviewKazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, et al.Journal of Human Genetics|June 8, 2021
Mapping genetic variability in mature miRNAs and miRNA binding sites in prostate cancerBongyong Lee, Jian-Liang Li, John Marchica, et al.Journal of Human Genetics|June 5, 2021
Clinical implementation and current advancement of blood liquid biopsy in cancerKazunori Watanabe, Yusuke Nakamura, Siew-Kee LowJournal of Human Genetics|May 31, 2022
Genetics of Alzheimer's disease: an East Asian perspectiveAkinori Miyashita, Masataka Kikuchi, Norikazu Hara, et al.Journal of Human Genetics|November 29, 2022
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assayZhouhuan Dong, Yun Wang, Jing Zhang, et al.Journal of Human Genetics|November 30, 2022
The mitochondrial genomes of two Pre-historic Hunter Gatherers in Sri LankaA S Fernando, A Wanninayaka, D Dewage, et al.Journal of Human Genetics|December 9, 2022
Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patientsHiroyuki Matsubayashi, Akiko Todaka, Takeshi Kawakami, et al.Journal of Human Genetics|December 12, 2022
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, et al.Journal of Human Genetics|July 7, 2021
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian studyThorsten Thye, Jennifer A Evans, Gerd Ruge, et al.Pageof 351