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List of works by Carolina Sismani

A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus

scientific article

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

scientific article

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.

scientific article published on 6 February 2014

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

scientific article published on 7 June 2018

De novo mosaic mutation in a female with Rett syndrome

scientific article published on 15 January 2019

De novo unbalanced translocations have a complex history/aetiology

scientific article published on 01 October 2018

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3.

scientific article published on 29 July 2015

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

scientific article published on 13 May 2020

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

scientific article published in PLoS ONE

Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.

scientific article published on 24 October 2013

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

scientific article published on 18 November 2018

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

scientific article published on 29 July 2021

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