Bita Hashemi
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View article: Mainstreaming of clinical genetic testing: A conceptual framework
Mainstreaming of clinical genetic testing: A conceptual framework Open
This framework will help guide clinical teams in the design and evaluation of mainstreaming efforts. It is critical that these programs are evaluated and shared in a standardized way so that we can implement strategies that allow optimal u…
View article: Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation
Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation Open
Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, re…
View article: A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant
A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant Open
Cyclin-dependent kinase 13 (CDK13) is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. CDK13-related disorder…
View article: Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine Open