Paula Maria Vieira Jorge
AuthID: R-002-5HV
1
TITLE: Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS
2
TITLE: Quality of life in adolescents with narcolepsy type 1-a transversal study in a tertiary hospital Full Text
AUTHORS: Salazar, Luis; Vieira, Paula Manuel; Cascais, Ines; Figueiroa, Sonia; Rios, Marta;
PUBLISHED: 2024, SOURCE: SLEEP MEDICINE, VOLUME: 113
AUTHORS: Salazar, Luis; Vieira, Paula Manuel; Cascais, Ines; Figueiroa, Sonia; Rios, Marta;
PUBLISHED: 2024, SOURCE: SLEEP MEDICINE, VOLUME: 113
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TITLE: Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system
AUTHORS: Pires, Silvia; Jorge, Paula; Liehr, Thomas; Oliva Teles, Natalia;
PUBLISHED: 2024, SOURCE: HUMAN GENOME VARIATION, VOLUME: 11, ISSUE: 1
AUTHORS: Pires, Silvia; Jorge, Paula; Liehr, Thomas; Oliva Teles, Natalia;
PUBLISHED: 2024, SOURCE: HUMAN GENOME VARIATION, VOLUME: 11, ISSUE: 1
4
TITLE: Cumulus cell DNA damage linked to fertilization success in females with an ovulatory dysfunction phenotype
AUTHORS: Rodrigues, Barbara; Sousa, Vanessa; Esteves, Filipa ; Vale Fernandes, Emidio; Costa, Solange; Sousa, Daniela; Brandao, Raquel; Leal, Carla; Pires, Joana; Gaivao, Isabel; Teixeira, Joao Paulo; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2024, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 12
AUTHORS: Rodrigues, Barbara; Sousa, Vanessa; Esteves, Filipa ; Vale Fernandes, Emidio; Costa, Solange; Sousa, Daniela; Brandao, Raquel; Leal, Carla; Pires, Joana; Gaivao, Isabel; Teixeira, Joao Paulo; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2024, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 12
5
TITLE: Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
AUTHORS: Maia, N; Potelle, S; Yildirim, H; Duvet, S; Akula, SK; Schulz, C; Wiame, E; Gheldof, A; O'Kane, K; Lai, A; Sermon, K; Proisy, M; Loget, P; Attie Bitach, T; Quelin, C; Fortuna, AM; Soares, AR; de Brouwer, APM; Van Schaftingen, E; Nassogne, MC; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 2
AUTHORS: Maia, N; Potelle, S; Yildirim, H; Duvet, S; Akula, SK; Schulz, C; Wiame, E; Gheldof, A; O'Kane, K; Lai, A; Sermon, K; Proisy, M; Loget, P; Attie Bitach, T; Quelin, C; Fortuna, AM; Soares, AR; de Brouwer, APM; Van Schaftingen, E; Nassogne, MC; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 2
6
TITLE: Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22-related Ritscher-Schinzel syndromes
AUTHORS: Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Hojte, Anne F.; Fenger, Christina D.; Moller, Rikke S.; Bayat, Allan;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 11
AUTHORS: Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Hojte, Anne F.; Fenger, Christina D.; Moller, Rikke S.; Bayat, Allan;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 11
7
TITLE: Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
9
TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
10
TITLE: Two Compound Heterozygous Variants inSNX14Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20 Full Text
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
