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Publications by Carolina Sismani

De Novo Unbalanced Translocations Have a Complex History/Aetiology

Human Genetics
Genetics
2018English

Position Effect, Cryptic Complexity, and Direct Gene Disruption as Disease Mechanisms in De Novo Apparently Balanced Translocation Cases

PLoS ONE
Multidisciplinary
2018English

Targeted Capture Enrichment Followed by NGS: Development and Validation of a Single Comprehensive NIPT for Chromosomal Aneuploidies, Microdeletion Syndromes and Monogenic Diseases

Molecular Cytogenetics
BiochemistryMolecular MedicineGeneticsMolecular Biology
2019English

Cryptic Breakpoint Identified by Whole-Genome Mate-Pair Sequencing in a Rare Paternally Inherited Complex Chromosomal Rearrangement

Molecular Cytogenetics
BiochemistryMolecular MedicineGeneticsMolecular Biology
2018English

Apparent Homozygosity of p.Phe508del inCFTRdue to a Large Gene Deletion of Exons 4–11

Case Reports in Genetics
2014English

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
2001English

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