Associated Papers
Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.
Yue X et al.
Molecular Genetics & Genomic Medicine, 2024
STAG2: Computational Analysis of Missense Variants Involved in Disease.
Ros-Pardo D et al.
International Journal of Molecular Sciences, 2024
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.
Abarca-Barriga HH et al.
Genes, 2023
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
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC et al.
Human Genetics, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
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A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Gudmundsson S et al.
European Journal of Medical Genetics, 2019
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
Boyle MI et al.
Clinical Genetics, 2017
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E et al.
Gastroenterology, 2015
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
Genetic basis of cohesinopathies.
Barbero JL
The Application of Clinical Genetics, 2013
RAD21 mutations cause a human cohesinopathy.
Deardorff MA et al.
American Journal of Human Genetics, 2012
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