Fatima Lopes - University of Aveiro | 人才画像

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个人简介

Fatima Lopes currently works at the Department of Medical Sciences, University of Aveiro. Fatima was involved in research in the field of Neurodevelopmental Disorders - Genetics. She is currently working in 'GenomePT' project.

研究兴趣

论文共 41 篇作者统计合作学者相似作者

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A Maturity Level Model for the Self-Assessment of Genomic Medicine Practices in Healthcare Systems

Maria Luis Cardoso,Fatima Lopes,Alexandra Costa,Osvaldo Santos,Melissa Konopko,Arshiya Merchant,Adrian Thorogood,Gary Saunders,Ilse Custers,Marc Van Den Bulcke,Tugce Schmitt, Ivana Bogicevic, Lene Cividanes,Dylan Spalding, Maeve Smith,Mark Bale,Erica Pitini,Paolo Villari,Valentina Baccolini, Anzelika Balciuniene,Laima Ambrozaityte, Elena Domenech,Fernando Martin-Sanchez, Francisco Sobron, Maria Luisa Saiz,Angel Carracedo,Anna Wedell,Anne Cambon-Thomsen, Annika Veimer, Bettina Lundgren, Eric Solary,Ewan Birney,Henrique Martins,Janis Klovins,Janna Saarela,Kathryn North,Mark Kroese,Mark Caulfield, Tapani Piha,Serena Scollen,Astrid Vicente

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 695-695

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Genetic heterogeneity in muscular dystrophies and congenital myopathies: data from multigene wes-based genetic studies

Alexandra M. Lopes,Fatima Lopes,Ana Filipa Brandao,Paulo Silva,Filipe Alves,Ana Lopes,Rita Bastos-Ferreira,Sara Morais,Maria Joao Nabais Sa,Joao Parente Freixo,Jorge Sequeiros,Jorge Oliveira

MEDICINEno. 13 (2023)

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Bioinformatics pitfalls, challenges and opportunities: accumulated experience of over 8,000 exomes at an accredited clinical genetics laboratory

Paulo Silva,Filipe Alves,Fatima Lopes,Alexandra Lopes,Sara Morais,Ana Lopes,Ana Filipa Brandao,Joana Sa,Rita Bastos Ferreira, Helia Ferreira,Maria Joao Sa,Joao Parente Freixo,Jorge Sequeiros,Jorge Oliveira

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 287-287

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Beyond 1 million genomes (B1MG) D5.2 Roadmap and guidance tool for countries

Fátima Lopes,Alexandra Costa,Maria Luı́s Cardoso,Melissa Konopko,Arshiya Merchant, Yun-Yun Tseng,Serena Scollen,Astrid M. Vicente

Zenodo (CERN European Organization for Nuclear Research) (2023)

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Mutational spectrum of genes related to hereditary neuropathies - data from a molecular diagnostics laboratory

Fatima Lopes,Alexandra Lopes,Ana Filipa Brandao,Paulo Silva,Ana Lopes,Rita Bastos Ferreira,Sara Morais,Joana Sa,Maria Joao Sa,Joao Parente Freixo,Jorge Sequeiros,Jorge Oliveira

MEDICINEno. 13 (2023): 214-215

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Genetic analysis in a large cohort of patients with hereditary spastic paraplegia: diagnostic challenges

Sara Morais,Ana Filipa Brandao,Ana Lopes,Rita Bastos-Ferreira,Susana Sousa,Paulo Silva,Fatima Lopes,Alexandra Lopes,Joana Damasio,Jose Leal Loureiro,Marina Magalhaes,Miguel Leao,Cristina Costa,Ricardo Mare,Jorge Sequeiros,Joao Parente Freixo,Jorge Oliveira

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Incidental carrier detection of 639 variants in patients tested for diagnostic purposes: added value for genetic counselling and a glimpse about recessive diseases in portugal

Fatima Lopes,Filipe Alves,Paulo Silva,Susana Sousa,Sara Morais,Joana Sa,Ana Filipa Brandao,Ana Lopes,Rita Bastos-Ferreira,Alexandra Lopes,Joao Parente Freixo,Jorge Sequeiros,Jorge Oliveira

MEDICINE（2022）

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Genetic characterization of 274 patients with neurofibromatosis type 1: rare and diagnostically challenging co-occurrence of two variants in the same patient

Rita Bastos Ferreira,Susana Sousa,Ana Lopes, Ana Filipa Brandaeo,Sara Morais,Paulo Silva,Fatima Lopes,Alexandra Lopes,Claudia Patraquim,Miguel Rocha,Joao Parente Freixo,Jorge Sequeiros,Jorge Oliveira

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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