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Journal 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.Journal of Human Genetics|November 22, 2018
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general populationVíctor Faundes, Geraldine Malone, William G Newman, et al.Journal of Human Genetics|March 8, 2019
Previously undescribed thyroid-specific miRNA sequences in papillary thyroid carcinomaMateus Camargo Barros-Filho, Michelle Pewarchuk, Brenda de Carvalho Minatel, et al.Journal of Human Genetics|February 21, 2021
Characterization of early postzygotic somatic mutations through multi-organ analysisHyeonjin Lee, Eun Na Kim, Ji-Young Lee, et al.Pageof 353