Next-generation phenotyping improves the diagnostic yield in a Cornelia de Lange Syndrome Brazilian cohort

Author(s):Show less -

Nunes, Beatriz Carvalho ; Vilella, Thaina ; Pinheiro, Isabel ; Aoi, Hiromi ; Seyama, Rie ; Matsumoto, Naomichi ; Bellucco, Fernanda Teixeira ; Kim, Chong ; Melaragno, Maria Isabel ; Krawitz, Peter ; Hsieh, Tzung-Chien

• Document type: Journal article
• Source: European Journal of Human Genetics; v. 32, p. 2-pg., 2024-12-01.
• FAPESP's process: 23/12833-9 - Applying next-generation phenotyping to prioritize Cornelia de Lange Syndrome patients for additional exams and improve variant classification
• Grantee: Beatriz de Carvalho Nunes
• Support Opportunities: Scholarships abroad - Research Internship - Doctorate (Direct)
• FAPESP's process: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype
• Grantee: Maria Isabel de Souza Aranha Melaragno
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 22/03428-0 - Search for genetic variants with pathogenic potential in patients with a characteristic phenotype of coesinopathies focusing on the Cornelia de Lange Syndrome
• Grantee: Beatriz de Carvalho Nunes
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)