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Journal of Human Genetics|November 1, 2019
Visualization tools for human structural variations identified by whole-genome sequencingToshiyuki T Yokoyama, Masahiro KasaharaJournal of Human Genetics|February 15, 2019
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencingTakeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, et al.Journal of Human Genetics|November 24, 2020
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry dataDaigo Okada, Naotoshi Nakamura, Kazuya Setoh, et al.Journal of Human Genetics|September 19, 2020
GWA-based pleiotropic analysis identified potential SNPs and genes related to type 2 diabetes and obesityYong Zeng, Hao He, Lan Zhang, et al.Journal of Human Genetics|November 4, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonographyHiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, et al.Journal of Human Genetics|July 13, 2022
Genetics of brain arteriovenous malformations and cerebral cavernous malformationsHiroki Hongo, Satoru Miyawaki, Yu Teranishi, et al.Journal of Human Genetics|July 27, 2022
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort studyBin Liang, Donghong Yu, Wantong Zhao, et al.Journal of Human Genetics|July 27, 2022
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasiaGhada M H Abdel-Salam, Marian Girgis, Maha M Eid, et al.Journal of Human Genetics|February 5, 2016
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndromeHiroshi Maeda, Tomohiro Chiyonobu, Michiko Yoshida, et al.Journal of Human Genetics|February 5, 2016
New massive parallel sequencing approach improves the genetic characterization of congenital myopathiesJorge Oliveira, Ana Gonçalves, Ricardo Taipa, et al.Pageof 353