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Journal of Human Genetics|November 10, 2023
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, et al.Journal of Human Genetics|July 19, 2024
INTS11-related neurodevelopmental disorder: a case report and literature reviewLihua Jiang, Yilong Wang, Weiqin Zhang, et al.Journal of Human Genetics|July 17, 2024
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genomeKenta Orimo, Jun Mitsui, Takashi Matsukawa, et al.Journal of Human Genetics|July 2, 2024
Investigating druggable kinases for targeted therapy in retinoblastomaKumar Jeyaprakash, Manojkumar Kumaran, Usha Kim, et al.Journal of Human Genetics|July 1, 2024
Association of Crohn's disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization studyYinan Wang, Yiming Jia, Qingyun Xu, et al.Journal of Human Genetics|June 4, 2024
Genetic association mapping leveraging Gaussian processesNatsuhiko KumasakaJournal of Human Genetics|July 10, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 proteinBoudour Khabou, Umar Bin Mohamad Sahari, Abir Ben Issa, et al.Journal of Human Genetics|June 16, 2024
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese populationRui Dong, Ruifeng Jin, Hongwei Zhang, et al.Journal of Human Genetics|August 17, 2023
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipationTakeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, et al.Journal of Human Genetics|August 17, 2023
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family historyXi Chen, Yuqian Wang, Shuo Guan, et al.Pageof 353