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Journal of Human Genetics|June 19, 2022
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of FallotAlexandru Chelu, Simon G Williams, Bernard D Keavney, et al.Journal of Human Genetics|September 17, 2020
A genome-wide association study reveals a substantial genetic basis underlying the Ebbinghaus illusionZijian Zhu, Biqing Chen, Ren Na, et al.Journal of Human Genetics|September 19, 2020
Multi-omics study for interpretation of genome-wide association studyMasato AkiyamaJournal of Human Genetics|September 19, 2020
Unique roles of rare variants in the genetics of complex diseases in humansYukihide Momozawa, Keijiro MizukamiJournal of Human Genetics|September 12, 2020
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complexYuhuan Meng, Changshun Yu, Meijun Chen, et al.Journal of Human Genetics|September 22, 2020
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studiesMasahiro Nakatochi, Itaru Kushima, Norio OzakiJournal of Human Genetics|October 17, 2020
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3Jessica Omark, Yohei Masunaga, Mark Hannibal, et al.Journal of Human Genetics|October 10, 2020
The identification of two pathogenic variants in a family with mild and severe forms of developmental delayNoriko Miyake, Shermineh Heydari, Masoud Garshasbi, et al.Journal of Human Genetics|October 10, 2020
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteinsJing-Yi Xue, Zheng Wang, Sarah F Smithson, et al.Journal of Human Genetics|October 13, 2020
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium databaseMaiko Okano, Tadashi Nomizu, Kazunoshin Tachibana, et al.Pageof 351