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Journal of Human Genetics|October 11, 2020
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arraysYanjie Fan, Lili Wang, Yu Sun, et al.Journal of Human Genetics|January 8, 2020
Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancerHyun-Ki Kim, Eun Jin Lee, Young-Jae Lee, et al.Journal of Human Genetics|January 8, 2020
Phenome-wide screening for traits causally associated with the risk of coronary artery diseaseMajid Nikpay, Sara MohammadzadehJournal of Human Genetics|January 4, 2023
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasisMai-Huong Thi Nguyen, Anh-Hoa Pham Nguyen, Diem-Ngoc Ngo, et al.Journal of Human Genetics|January 11, 2023
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profilingYoshimi Kiyozumi, Keisuke Goto, Shusuke Yoshikawa, et al.Journal of Human Genetics|January 11, 2023
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicismRie Seyama, Yuri Uchiyama, Yosuke Kaneshi, et al.Journal of Human Genetics|June 21, 2022
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndromeTenghui Wu, Leilei Mao, Chen Chen, et al.Journal of Human Genetics|June 12, 2022
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapyNaoki Suzuki, Ayumi Nishiyama, Hitoshi Warita, et al.Journal of Human Genetics|October 22, 2010
Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infantsXiuyong Cheng, Tongchuan Li, Honglian Wang, et al.Journal of Human Genetics|October 29, 2010
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomaliesShin Hayashi, Issei Imoto, Yoshinori Aizu, et al.Pageof 353