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Publications by Carolina Sismani
De Novo Unbalanced Translocations Have a Complex History/Aetiology
Human Genetics
Genetics
Position Effect, Cryptic Complexity, and Direct Gene Disruption as Disease Mechanisms in De Novo Apparently Balanced Translocation Cases
PLoS ONE
Multidisciplinary
Targeted Capture Enrichment Followed by NGS: Development and Validation of a Single Comprehensive NIPT for Chromosomal Aneuploidies, Microdeletion Syndromes and Monogenic Diseases
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Cryptic Breakpoint Identified by Whole-Genome Mate-Pair Sequencing in a Rare Paternally Inherited Complex Chromosomal Rearrangement
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Apparent Homozygosity of p.Phe508del inCFTRdue to a Large Gene Deletion of Exons 4–11
Case Reports in Genetics
Screening for Subtelomeric Chromosome Abnormalities in Children With Idiopathic Mental Retardation Using Multiprobe Telomeric FISH and the New MAPH Telomeric Assay
European Journal of Human Genetics
Genetics