Unit for Multidisciplinary Research in Biomedicine

Ana Maria Figueiredo Tavares Fortuna, MD

Selected publications:

1. Lopes F, Torres F, Lynch SA, Jorge A, Sousa S, Silva J, Rendeiro P, Tavares P,Fortuna AM, Maciel P. The contribution of 7q33 copy number variations forintellectual disability. Neurogenetics. 2018 Jan;19(1):27-40. doi:10.1007/s10048-017-0533-5. Epub 2017 Dec 19. PubMed PMID: 29260337.

2. Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, ChungWK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, AvolaE, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D,Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study, Kukolich MK, McGaughran J,Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C,Eichler EE, de Vries BB. The Koolen-de Vries syndrome: a phenotypic comparison ofpatients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur JHum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26.PubMed PMID: 26306646; PubMed Central PMCID: PMC4930086.

3. 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. PubMedPMID: 26303611; PubMed Central PMCID: PMC4864718.

4. Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van MaarleMC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-DijkstraI, Schrander-Stumpel CT, Hofstra RM. Genotype-phenotype correlations in L1syndrome: a guide for genetic counselling and mutation analysis. J Med Genet.2010 Mar;47(3):169-75. doi: 10.1136/jmg.2009.071688. Epub 2009 Oct 20. PubMedPMID: 19846429.

5. Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, GonçalvesAR, Froufe H, Egas C, Santos R, Sousa M. New splicing mutation in the cholinekinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exomesequencing. J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub2015 Mar 5. PubMed PMID: 25740612.