Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Keyphrases

• Candidate Disease Genes 20%
• Causative Variant 20%
• Cause of Disease 20%
• Clinical Exome 20%
• Clinical Exome Sequencing 100%
• Cohesin 20%
• Cohesinopathy 100%
• Copy number 20%
• Cornelia De Lange Syndrome (CdLS) 60%
• Deletion Variant 20%
• Disease Genes 20%
• Facial Features 20%
• HDAC8 20%
• Indel 40%
• Insertion-deletion 20%
• Locus Heterogeneity 100%
• NIPBL 20%
• Overlapping Features 20%
• PDS5A 40%
• Phenotypic Characterization 20%
• Phenotypic Variation 100%
• RAD21 20%
• Single nucleotide Deletion 20%
• SMC1A 20%
• SMC3 20%
• STAG1 60%
• STAG2 60%

Biochemistry, Genetics and Molecular Biology

• Allele 33%
• Cohesin 33%
• Exome 33%
• Exome Sequencing 100%
• HDAC8 33%
• Indel 100%
• NIPBL 33%
• RAD21 33%
• SMC1A 33%
• SMC3 33%