João Parente Freixo
European Organisation for Research and Treatment of Cancer(NL)Universidade do Porto(PT)Institut des Sciences Moléculaires(FR)IPO Porto(PT)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA regulation and disease, Mitochondrial Function and Pathology, Congenital heart defects research
Most-Cited Works
- → A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis(2021)17 cited
- → Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape(2020)11 cited
- LAMA2 Muscular Dystrophy(2020)
- → Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study(2021)7 cited
- → A Case of YY1‐Related Isolated Dystonia with Severe Oromandibular Involvement(2021)7 cited
- → MYORG gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodes(2020)7 cited
- → Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1