Associated Papers
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
38025242 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Synthetic lethality of cohesins with PARPs and replication fork mediators.
McLellan JL et al.
Plos Genetics, 2012
The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.
Mannini L et al.
Human Mutation, 2010
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