Work

Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating

Year: 2025

Type: article

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2024-110144

Authors: Jorge Diogo Da Silva, Nuno Maia, Paula Jorge, Vanessa Sousa, Nataliya Tkachenko, Ana Rita Soares

Institutions: Universidade do Porto, Hospital de Santo António, Instituto de Ciências Biomédicas Albel Salazar, University of Minho, Universidade Técnica do Porto

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4407606777

FWCI:

Cites: 17

Cited by:

Related to: 10