João Silva
Publications by Year
Research Areas
BRCA gene mutations in cancer, Family Support in Illness, Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics
Most-Cited Works
- → Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis(2016)149 cited
- → Further clinical and molecular delineation of the 15q24 microdeletion syndrome(2011)92 cited
- → Redefining the MED13L syndrome(2015)82 cited
- → Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations(2015)45 cited
- → Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe(2017)39 cited
- → Family Adjustment to Hereditary Cancer Syndromes: A Systematic Review(2022)30 cited
- → Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon(2013)29 cited
- → Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome(2010)23 cited
- → Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal(2019)22 cited
- → Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects(2020)21 cited