Sara Joana Fino dos Santos Rodrigues de Carvalho
AuthID: R-001-0G9
1
TITLE: A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
AUTHORS: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 1
AUTHORS: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Morphological, Molecular and Genomic Identification and Characterisation of Monilinia fructicola in Prunus persica from Portugal
AUTHORS: Baltazar, Elsa; Rodrigues, Sara; Ares, Aitana; Camelo, Alexandra; Brandao, Ines; Santo, Christophe Espirito; Trovao, Joao; Garcia, Eva; Costa, Joana;
PUBLISHED: 2023, SOURCE: AGRONOMY-BASEL, VOLUME: 13, ISSUE: 6
AUTHORS: Baltazar, Elsa; Rodrigues, Sara; Ares, Aitana; Camelo, Alexandra; Brandao, Ines; Santo, Christophe Espirito; Trovao, Joao; Garcia, Eva; Costa, Joana;
PUBLISHED: 2023, SOURCE: AGRONOMY-BASEL, VOLUME: 13, ISSUE: 6
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage Full Text
AUTHORS: David, Dezso ; Fino, Joana; Oliveira, Renata; Doria, Sofia ; Morton, Cynthia C.;
PUBLISHED: 2023, SOURCE: GENE, VOLUME: 887
AUTHORS: David, Dezso ; Fino, Joana; Oliveira, Renata; Doria, Sofia ; Morton, Cynthia C.;
PUBLISHED: 2023, SOURCE: GENE, VOLUME: 887
4
TITLE: Nonlinear systems of parabolic IBVP: A stable super-supraconvergent fully discrete piecewise linear FEM Full Text
AUTHORS: Carvalho, S.; Ferreira, J. A. ; Pena, G.;
PUBLISHED: 2022, SOURCE: APPLIED MATHEMATICS AND COMPUTATION, VOLUME: 419
AUTHORS: Carvalho, S.; Ferreira, J. A. ; Pena, G.;
PUBLISHED: 2022, SOURCE: APPLIED MATHEMATICS AND COMPUTATION, VOLUME: 419
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants (vol 12, 757170, 2021) Full Text
AUTHORS: Fino, Joana; Marques, Barbara; Dong, Zirui; David, Dezso;
PUBLISHED: 2022, SOURCE: FRONTIERS IN GENETICS, VOLUME: 13
AUTHORS: Fino, Joana; Marques, Barbara; Dong, Zirui; David, Dezso;
PUBLISHED: 2022, SOURCE: FRONTIERS IN GENETICS, VOLUME: 13
INDEXED IN: WOS
WOS6
TITLE: A 3,195 kb duplication at 2q14.3 in a proband with a t(17;19)(p13.1;p13.3)mat is most likely associated with craniofacial dimorphisms, developmental and neurological anomalies
AUTHORS: Oliva Teles, Natalia ; Marques, Mariana; Mota Freitas, Manuela; Candeias, Cristina; Fino, Joana; Fortuna, Ana; David, Dezso;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Oliva Teles, Natalia ; Marques, Mariana; Mota Freitas, Manuela; Candeias, Cristina; Fino, Joana; Fortuna, Ana; David, Dezso;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS7
TITLE: SVInterpreter: a web-based tool for structural variants inspection and identification of possible disease-causing candidate genes
AUTHORS: Fino, Joana; Marques, Barbara; Dong, Zirui; David, Dezso;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Fino, Joana; Marques, Barbara; Dong, Zirui; David, Dezso;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS8
TITLE: Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape Full Text
AUTHORS: Dezso David; Joao P Freixo; Joana Fino; Ines Carvalho; Mariana Marques; Manuela Cardoso; Raul E Pina Aguilar; Cynthia C Morton;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 4
AUTHORS: Dezso David; Joao P Freixo; Joana Fino; Ines Carvalho; Mariana Marques; Manuela Cardoso; Raul E Pina Aguilar; Cynthia C Morton;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 4
INDEXED IN: Scopus WOS
Scopus WOS9
TITLE: Solar observations at the Coimbra Astronomical Observatory
AUTHORS: Ana Lourenco; Sara Carvalho; Teresa Barata; Adriana Garcia; Victor Carrasco; Nuno Peixinho;
PUBLISHED: 2019, SOURCE: OPEN ASTRONOMY, VOLUME: 28, ISSUE: 1
AUTHORS: Ana Lourenco; Sara Carvalho; Teresa Barata; Adriana Garcia; Victor Carrasco; Nuno Peixinho;
PUBLISHED: 2019, SOURCE: OPEN ASTRONOMY, VOLUME: 28, ISSUE: 1
INDEXED IN: WOS
WOS10
TITLE: Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis Full Text
AUTHORS: Dezso David; Deepti Anand; Carlos Araujo; Brian Gloss; Joana Fino; Marcel Dinger; Paivi Lindahl; Minna Poyhonen; Laivuori Hannele; Joao Lavinha;
PUBLISHED: 2018, SOURCE: EXPERIMENTAL EYE RESEARCH, VOLUME: 168
AUTHORS: Dezso David; Deepti Anand; Carlos Araujo; Brian Gloss; Joana Fino; Marcel Dinger; Paivi Lindahl; Minna Poyhonen; Laivuori Hannele; Joao Lavinha;
PUBLISHED: 2018, SOURCE: EXPERIMENTAL EYE RESEARCH, VOLUME: 168
INDEXED IN: Scopus WOS
Scopus WOS