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Journal of Human Genetics|February 16, 2019
Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.Journal of Human Genetics|March 12, 2019
Investigation of novel variations of ORAI1 gene and their association with Kawasaki diseaseKyaw Thiha, Yoichi Mashimo, Hiroyuki Suzuki, et al.Journal of Human Genetics|March 10, 2019
Detectible mosaic truncating PPM1D mutations, age and breast cancer riskMitchell J Machiela, Timothy A Myers, Christopher J Lyons, et al.Journal of Human Genetics|February 24, 2019
Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structuresHidehito Inagaki, Sayuri Ota, Haruki Nishizawa, et al.Journal of Human Genetics|February 24, 2019
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndromeHitomi Shimizu, Satoshi Watanabe, Akira Kinoshita, et al.Journal of Human Genetics|March 1, 2019
Identification of novel genetic variants for type 2 diabetes, childhood obesity, and their pleiotropic lociChun-Ping Zeng, Xu Lin, Cheng Peng, et al.Journal of Human Genetics|August 28, 2019
Application of ACMG criteria to classify variants in the human gene mutation databaseHui-Qi Qu, Xiang Wang, Lifeng Tian, et al.Journal of Human Genetics|September 14, 2019
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegiaEtienne Leveille, Mehrdad A Estiar, Lynne Krohn, et al.Journal of Human Genetics|August 18, 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephalyTakuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, et al.Journal of Human Genetics|September 11, 2019
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcificationElisa Giorgio, Emanuela Garelli, Adriana Carando, et al.Pageof 353