Journal Of Medical Genetics高引用文章

• New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

  引用次数：33

• Kabuki syndrome: international consensus diagnostic criteria

  引用次数：29

• Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

  引用次数：24

• Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

  引用次数：20

• Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

  引用次数：20

• Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

  引用次数：19

• Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

  引用次数：19

• Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

  引用次数：18

• Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017

  引用次数：18

• Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

  引用次数：18