Unit for Multidisciplinary Research in Biomedicine

MJ Nabais Sá, MD, PhD

Clinical Researcher

orcid.org/0000-0002-9472-6050

Academic degrees:

2014: Doctor’s Degree (PhD), at Abel Salazar Institute of Biomedical Sciences, University of Porto (Porto, Portugal)

2013: Master of Public Health (MPH), at the Harvard T.H. Chan School of Public Health (Boston, MA, USA)

2006: Medical Degree, at Faculty of Medicine, University of Coimbra (Coimbra, Portugal)

Positions:

October 2017-present: Clinical Geneticist and Clinical Researcher, at Radboud University Medical Centre (Nijmegen, The Netherlands)

2016 – 2017: Clinical Geneticist, at Centro de Genética Médica Dr. Jacinto de Magalhães (Porto, Portugal)

2008 – 2016: Clinical Geneticist in training, at Centro de Genética Médica Dr. Jacinto de Magalhães (Porto, Portugal):

2015 (2 months): Oncogenetics, at Familial Cancer Risk Clinic, Portuguese Institute of Oncology Francisco Gentil (Lisboa, Portugal)

2015 (1 month): Oncogenetics, at East Anglian Medical Genetics Service, Addenbrooke’s Hospital (Cambridge, UK)

2014 (3 months): Molecular Genetics using massive parallel sequencing technologies, at Maastricht University Medical Centre (Maastricht, The Netherlands)

Research interests:

Human Genetics, Neurodevelopmental Disorders, Intellectual Disability

Prizes, honors, awards:

• 2009: Clinical Research/Career Development Award - Junior category, from the Harvard Medical School-Portugal Program, sponsored by the Foundation for Science and Technology (FCT, Portugal)

Selected publications:

1. Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L. Infantile. Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. JIMD Rep. 2016;26:53-60. doi: 10.1007/8904_2015_487. Epub 2015 Aug 25.
2. Marques I, Sá MJ, Soares G, Mota Mdo C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, Leventer RJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133. Epub 2015 Feb 25.
   
3. Nabais Sá MJ, Sampaio S, Oliveira A, Alves S, Moura CP, Silva SE, Castro R, Araújo JA, Rodrigues M, Neves F, Seabra J, Soares C, Gaspar MA, Tavares I, Freitas L, Sousa TC, Henriques AC, Costa FT, Morgado E, Sousa FT, Sousa JP, da Costa AG, Filipe R, Garrido J, Montalban J, Ponce P, Alves R, Faria B, Carvalho MF, Pestana M, Carvalho F, Oliveira JP. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families. Clin Genet. 2015 Nov;88(5):462-7. doi: 10.1111/cge.12522. Epub 2014 Nov 10.
4. Nabais Sá MJ, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo JA, Gaspar MA, Soares C, Oliveira A, Henriques AC, da Costa AG, Abreu CP, Ponce P, Alves R, Pinho L, Silva SE, de Moura CP, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira JP. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10.
   
5. Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno. JR, Alves S, Carvalho F, Froyen G, Oliveira JP. Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome. J Med Genet. 2013 Nov;50(11):745-53. doi: 10.1136/jmedgenet-2013-101670. Epub 2013 Aug 19.