Maria Carmo Salazar Velez Roque Fonseca


AuthID: R-000-APC

Confirmed Publications: 193



11
TITLE: Computational prediction of human deep intronic variation  Full Text
AUTHORS: Barbosa, Pedro; Savisaar, Rosina; Carmo Fonseca, Maria ; Fonseca, Alcides ;
PUBLISHED: 2023, SOURCE: GIGASCIENCE, VOLUME: 12
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID | CIÊNCIAVITAE
12
TITLE: Sweet splicing
AUTHORS: Carmo Fonseca, Maria ;
PUBLISHED: 2023, SOURCE: CELL, VOLUME: 186, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
13
14
TITLE: Gene architecture directs splicing outcome in separate nuclear spatial regions
AUTHORS: Tammer, L; Hameiri, O; Keydar, I; Roy, VR; Ashkenazy Titelman, A; Custodio, N; Sason, I; Shayevitch, R; Rodriguez Vaello, V; Rino, J; Maor, GL; Leader, Y; Khair, D; Aiden, EL; Elkon, R; Irimia, M; Sharan, R; Shav Tal, Y; Carmo Fonseca, M ; Ast, G;
PUBLISHED: 2022, SOURCE: MOLECULAR CELL, VOLUME: 82, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 36
IN MY: CIÊNCIAVITAE
15
TITLE: Pseudouridylation: A new player in co-transcriptional splicing regulation
AUTHORS: Rui Sousa Luís; Maria Carmo Fonseca ;
PUBLISHED: 2022, SOURCE: Molecular cell, VOLUME: 82, ISSUE: 3
INDEXED IN: Scopus CrossRef: 2
IN MY: CIÊNCIAVITAE
16
TITLE: Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
AUTHORS: Silveira, C; Sousa, AC; Janeiro, A; Malveiro, S; Teixeira, E; Brysch, E; Pantarotto, M; Felizardo, M; Madureira, R; Nogueira, F; Guimaraes, C; Matos, C; Canario, D; Bruges Armas, J; Carmo Fonseca, M ;
PUBLISHED: 2021, SOURCE: TRANSLATIONAL LUNG CANCER RESEARCH, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA
AUTHORS: Silva, TP; Pereira, CA; Oliveira, AR; Raposo, AC; Arez, M; Cabral, JMS; Milagre, I; Carmo Fonseca, M ; da Rocha, ST;
PUBLISHED: 2021, SOURCE: STEM CELL RESEARCH, VOLUME: 52
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: CIÊNCIAVITAE
18
TITLE: Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation  Full Text
AUTHORS: Silva, TP; Pereira, CA; Raposo, AC; Oliveira, AR; Arez, M; Cabral, JMS; Milagre, I; Carmo Fonseca, M ; da Rocha, ST;
PUBLISHED: 2021, SOURCE: STEM CELL RESEARCH, VOLUME: 53
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: CIÊNCIAVITAE
19
TITLE: POINT technology illuminates the processing of polymerase-associated intact nascent transcripts
AUTHORS: Sousa Luís, R; Dujardin, G; Zukher, I; Kimura, H; Weldon, C; Carmo Fonseca, M ; Proudfoot, NJ; Nojima, T;
PUBLISHED: 2021, SOURCE: Molecular Cell, VOLUME: 81, ISSUE: 9
INDEXED IN: Scopus CrossRef: 80
IN MY: CIÊNCIAVITAE
20
TITLE: Cryptic Splice-Altering Variants inMYBPC3Are a Prevalent Cause of Hypertrophic Cardiomyopathy
AUTHORS: Lopes, LR; Barbosa, P; Torrado, M; Quinn, E; Merino, A; Ochoa, JP; Jager, J; Futema, M; Carmo Fonseca, M ; Monserrat, L; Syrris, P; Elliott, PM;
PUBLISHED: 2020, SOURCE: CIRCULATION-GENOMIC AND PRECISION MEDICINE, VOLUME: 13, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 27
IN MY: ORCID | CIÊNCIAVITAE
Page 2 of 20. Total results: 193.

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