Associated Papers
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2023
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
Panarotto M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Structure of the cohesin loader Scc2.
Chao WC et al.
Nature Communications, 2017
28059076 (PubMed )
Supplement: ncomms13952-s1.pdf
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis LA et al.
American Journal of Human Genetics, 2004
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