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Journal of Human Genetics|September 28, 2019
Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemiaXiaowen Huang, Dankang Li, Qinglin Zhao, et al.Journal of Human Genetics|January 27, 2017
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutationJasmin Roohi, Jennifer Crowe, Denis Loredan, et al.Journal of Human Genetics|October 7, 2016
INPPL1 gene mutations in opsismodysplasiaAnaïs Fradet, Jamie FitzgeraldJournal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.Journal of Human Genetics|August 18, 2019
Solid-state nanopores towards single-molecule DNA sequencingYusuke Goto, Rena Akahori, Itaru Yanagi, et al.Journal of Human Genetics|March 1, 2019
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKDShewata Pandita, Vijaya Ramachandran, Prahlad Balakrishnan, et al.Journal of Human Genetics|March 13, 2019
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?Catherine J Spellicy, Yunhui Peng, Leah Olewiler, et al.Journal of Human Genetics|February 22, 2019
A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosisKazuki Takeda, Ikuyo Kou, Nao Otomo, et al.Journal of Human Genetics|November 20, 2018
Recent trends in mucopolysaccharidosis researchHiroshi KobayashiJournal of Human Genetics|November 22, 2018
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphismVenugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, et al.Pageof 351