Journal Of Human Genetics高引用文章

• Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency

  引用次数：17

• In vivo genome editing via the HITI method as a tool for gene therapy

  引用次数：16

• CRISPR/Cas9 library screening for drug target discovery

  引用次数：14

• Gene regulation by antitumor miR-130b-5p in pancreatic ductal adenocarcinoma: the clinical significance of oncogenic EPS8

  引用次数：13

• Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

  引用次数：13

• Dual strands of the miR-145 duplex (miR-145-5p and miR-145-3p) regulate oncogenes in lung adenocarcinoma pathogenesis

  引用次数：11

• Dual strands of the miR-223 duplex (miR-223-5p and miR-223-3p) inhibit cancer cell aggressiveness: targeted genes are involved in bladder cancer pathogenesis

  引用次数：11

• Urea cycle disorders-update

  引用次数：11

• Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

  引用次数：11

• A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

  引用次数：10