Paula Maria Vieira Jorge


AuthID: R-002-5HV

Confirmed Publications: 34



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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
2
TITLE: FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition  Full Text
AUTHORS: Nunes, Isabel Serra ; Abreu, Maria; Da Silva, Jorge Diogo; Gonzaga, Diana; Jorge, Paula ; Santos, Rosario; Soares, Ana Rita; Marques, Isabel;
PUBLISHED: 2025, SOURCE: JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
3
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TITLE: A tailored stepwise strategy for improving diagnostic yield in intellectual disability and developmental disorders  Full Text
AUTHORS: Maia, Nuno ; de Brouwer, Arjan P. M.; Jorge, Paula ;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: WOS
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
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID | CIÊNCIAVITAE
7
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; Walsh, CA; Stouffs, K; Jorge, P ; Jansen, AC; Foulquier, F; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | CIÊNCIAVITAE
8
TITLE: Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
AUTHORS: Polla, DL; Edmondson, AC; Duvet, S; March, ME; Sousa, AB; Lehman, A; Niyazov, D; van Dijk, F; Demirdas, S; van Slegtenhorst, MA; Kievit, AJA; Schulz, C; Armstrong, L; Bi, X; Rader, DJ; Izumi, K; Zackai, EH; de Franco, E; Jorge, P ; Huffels, SC; Hommersom, M; Ellard, S; Lefeber, DJ; Santani, A; Hand, NJ; van Bokhoven, H; He, M; de Brouwer, APM; ...More
PUBLISHED: 2021, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 108, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: CIÊNCIAVITAE
9
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
INDEXED IN: WOS CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
10
TITLE: Intellectual disability genomics: current state, pitfalls and future challenges
AUTHORS: Maia, N; Sa, MJN ; Melo Pires, M; de Brouwer, APM; Jorge, P ;
PUBLISHED: 2021, SOURCE: BMC GENOMICS, VOLUME: 22, ISSUE: 1
INDEXED IN: WOS CrossRef: 38
IN MY: ORCID | CIÊNCIAVITAE
Page 1 of 4. Total results: 34.

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