Ana Rita Alcântara Gonçalves


AuthID: R-000-1GM

Confirmed Publications: 45



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TITLE: Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)  Full Text
AUTHORS: Goncalves, A ; Fortuna, A; Ariyurek, Y; Oliveira, ME ; Nadais, G; Pinheiro, J; den Dunnen, JT; Sousa, M ; Oliveira, J ; Santos, R;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles  Full Text
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Oliveira, Jorge; Salvado, Ramon; Tomaz, Jorge; Morais, Sara; Lima, Margarida; Santos, Rosario;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
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TITLE: CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2  Full Text
AUTHORS: Morais, Sara; Pereira, Monica; Lau, Catarina ; Goncalves, Ana ; Monteiro, Catarina; Goncalves, Marta; Oliveira, Jorge ; Moreira, Lurdes; Cruz, Eugenia; Santos, Rosario; Lima, Margarida ;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 22
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
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TITLE: X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy
AUTHORS: Carvalho, A; Costa, C; Pinto, M; Taipa, R; Goncalves, A ; Oliveira, ME; Ferreira, S; Ribeiro, JA;
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRIC GENETICS, VOLUME: 12, ISSUE: 03
INDEXED IN: WOS CrossRef
IN MY: ORCID
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TITLE: alpha IIb beta 3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum  Full Text
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
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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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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