文章名稱引用次數

• New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)33
• Kabuki syndrome: international consensus diagnostic criteria29
• Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD24
• Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy20
• Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children20
• Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases19
• Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank19
• Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring18
• Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-201718
• Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study18