ProfileOfResearchers

TITLE: A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report Full Text
AUTHORS: Costa, Antonio; Pereira, Diogo; Malaquias, Maria Joao; Brandao, Ana Filipa; Oliveira, Jorge ; Magalhaes, Marina;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 2

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TITLE: Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals Full Text
AUTHORS: Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venancio, Margarida; Sequeiros, Jorge ; Freixo, Joao Parente; Antunes, Diana; Oliveira, Jorge ;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 8

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TITLE: Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches
AUTHORS: Susana Valente; Mariana Ribeiro; Jennifer Schnur; Filipe Alves; Nuno Moniz; Dominik Seelow; João Parente Freixo; Paulo Filipe Silva; Jorge Oliveira ;
PUBLISHED: 2024, SOURCE: BioMedInformatics, VOLUME: 4, ISSUE: 4

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TITLE: Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility Full Text
AUTHORS: Pereira, R. ; Carvalho, V.; Dias, C.; Barbosa, T.; Oliveira, J. ; Alves, A. ; Elsa Oliveira ; Sa, R. ; Sousa, M. ;
PUBLISHED: 2023, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 40, ISSUE: 4

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TITLE: Familial occipital lobe epilepsy associated with GABAA receptor variants
AUTHORS: Fonte, Joana; Videira, Goncalo; Chorao, Rui; Freitas, Joel; Carrilho, Ines; Freixo, Joao Parente; Oliveira, Jorge ; Chaves, Joao;
PUBLISHED: 2023, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 112

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TITLE: The impact of time-of-day reperfusion on remote ischemic conditioning in ST-elevation myocardial infarction: a RIC-STEMI substudy Full Text
AUTHORS: Pires, Carla Marques; Lamas, Diana; Gaspar, Antonio ; Lourenco, Andre P. ; Antunes, Nuno; Marques, Jorge ; Leite Moreira, Adelino F. ;
PUBLISHED: 2023, SOURCE: HEART AND VESSELS, VOLUME: 38, ISSUE: 7

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TITLE: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
AUTHORS: Maria Nabais N Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M De Brouwer; Jorge Oliveira ;
PUBLISHED: 2022, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8

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