Cláudia Falcão-Reis is a Medical Genetics’ attending physician at Centro Hospitalar e Universitário de Santo António (Porto, Portugal) since 2018 and the Clinical Genetics Outreach Care coordinator at Hospital de Santo Espírito da Ilha Terceira (Terceira Island, Azores) and at Hospital da Horta (Faial Island, Azores). She is Lecturer at the School of Medicine of the University of Minho where she teaches Clinical Genetics and Genomics and Medical Ethics. Her clinical research focuses mainly on sensorineural hearing loss, neurodevelopmental conditions, and bioethics. She regularly supervises clinical research projects and clinical genetics fellows, as well as master students from University of Porto and University of Minho.
Cláudia Falcão-Reis is a Medical Genetics’ attending physician at Centro Hospitalar e Universitário de Santo António (Porto, Portugal) since 2018 and the Clinical Genetics Outreach Care coordinator at Hospital de Santo Espírito da Ilha Terceira (Terceira Island, Azores) and at Hospital da Horta (Faial Island, Azores). She is Lecturer at the School of Medicine of the University of Minho where she teaches Clinical Genetics and Genomics and Medical Ethics. Her clinical research focuses mainly on sensorineural hearing loss, neurodevelopmental conditions, and bioethics. She regularly supervises clinical research projects and clinical genetics fellows, as well as master students from University of Porto and University of Minho.
Articles
Abreu, M., Branco, T., Figueiroa, S., & Reis, C. F. (2023). Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report. Frontiers in genetics, 14, 1156847. https://doi.org/10.3389/fgene.2023.1156847
Sousa, E., Abreu, M., Tkachenko, N., Rocha, J., & Falcão Reis, C. (2023). Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk. Frontiers in neurology, 14, 1161940. https://doi.org/10.3389/fneur.2023.1161940
Monteiro, S. S., Monteiro, M. P., Inocêncio, G., Borges, T., Garrido, S., Pereira, M. T., Vilaverde, J., Sales, M., Pinto, C., Rodrigues, M. D. C., Guedes-Martins, L., Dores, J., & Reis, C. F. (2023). Successful Prenatal Management of Inherited Congenital Non-Autoimmune Hyperthyroidism. Thyroid: official journal of the American Thyroid Association, 33(5), 653–654. https://doi.org/10.1089/thy.2022.0648
Johnson, B.V.,…, Reis, C.F.,…, Jolly, L.A .(2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biological psychiatry, 87(2), 100–112. https://doi.org/10.1016/j.biopsych.2019.05.028
Our multidisciplinary research team aims at dentifying and validating novel genetic causes of neurodevelopmental disorders in human patients, taking advantage of clinically well characterized patient cohorts and…
Phone: +351 253 604 967
Fax: +351 253 604 809
Email: icvs.sec@med.uminho.pt
Life and Health Sciences
Research Institute (ICVS)
School of Medicine,
University of Minho,
Campus de Gualtar
4710-057 Braga
Portugal
Copyright ©2022 ICVS. All Rights Reserved
Copyright ©2022 ICVS. All Rights Reserved
Life and Health Sciences
Research Institute (ICVS)
School of Medicine,
University of Minho,
Campus de Gualtar
4710-057 Braga
Portugal
Copyright ©2022 ICVS. All Rights Reserved
Life and Health Sciences
Research Institute (ICVS)
School of Medicine,
University of Minho,
Campus de Gualtar
4710-057 Braga
Portugal
