publicações selecionadas
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artigo académico
- Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating. Journal of Medical Genetics. 2025
- "Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene". Clinics and Research in Hepatology and Gastroenterology. 2025
- An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy. Neurological Sciences. 2023
- Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions. Genetics in Medicine Open. 2023
- A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large Dup(2)(q14.3q21.1). Biomedicine. 2022
- Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication. Biomedicine. 2022
- Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service. Journal of Community Genetics. 2022
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documento
- Establishing an objective clinical spectrum and genotype-phenotype correlations in the Ellis-van Creveld syndrome: the first systematic review of EVC and EVC2-associated conditions. 2022
- Complexo Esclerose Tuberosa: desafio no diagnóstico e aconselhamento em pré-natal 2022
- Rare hormones in a rare disease: the mutational spectrum of the GNAS gene 2022
- A familial case of the chromosome 1q21.1 deletion syndrome: the relevance of accurate cytogenetic testing for genetic counselling 2022