Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

Miles D. Thompson

doi:10.3390/genes15060715

Genes (May 2024)

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

Miles D. Thompson

Affiliations

Miles D. Thompson: Krembil Brain Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, ON M5T 2S8, Canada

DOI: https://doi.org/10.3390/genes15060715
Journal volume & issue: Vol. 15, no. 6
p. 715

Abstract

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Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using massively parallel sequencing for diagnostic purposes [...]

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Published in Genes

ISSN: 2073-4425 (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://www.mdpi.com/journal/genes/

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