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Alexandra Martins

Observed names: A Martins, A. Martins, ALEXANDRA MARTINS, Martins, Alexandra
Observed institutions: Oslo University Hospital, Memorial Sloan Kettering Cancer Center, University of Lisbon, Medical University of Białystok, Inserm, Czech Academy of Sciences, Charles University, Maastricht University, Hospital Prof. Dr. Fernando Fonseca, Normandie Université, Hospital Curry Cabral, National Cancer Centre Singapore, Czech Academy of Sciences, Institute of Molecular Genetics, Institute for Research and Innovation in Biomedicine, Hospital de Santa Maria, Centre Hospitalier Universitaire de Rouen, Génomique du cancer et du cerveau, Instituto de Medicina Molecular João Lobo Antunes, Instituto Gulbenkian de Ciência, New York University, Université de Rouen Normandie, The University of Tokyo
ORCID: 0000-0003-4322-8497
Observed ORCID: 0000-0003-4322-8497
OpenAlex ID: A5007952303
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
2013 · on behalf of InSiGHT, Bryony A Thompson, et al. · Nature Genetics · 467
Mechanism of nonhomologous end-joining in mycobacteria: a low-fidelity repair system driven by Ku, ligase D and ligase C
2005 · Chunling Gong, Paola Bongiorno, et al. · Nature Structural & Molecular Biology · 214
Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants
2010 · Pascaline Gaildrat, Audrey Killian, et al. · Methods in molecular biology · 194
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
2016 · Omar Soukarieh, Pascaline Gaildrat, et al. · PLoS Genetics · 167
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A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects
2008 · Isabelle Tournier, Myriam Vezain, et al. · Human Mutation · 163
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Biochemical and Genetic Analysis of the Four DNA Ligases of Mycobacteria
2004 · Chunling Gong, Alexandra Martins, et al. · Journal of Biological Chemistry · 137
A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
2009 · Myriam Vezain, Pascale Saugier-Veber, et al. · Human Mutation · 127
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Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
2008 · C Bonnet, S Krieger, et al. · Journal of Medical Genetics · 126
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
2022 · Raphaël Leman, Béatrice Parfait, et al. · Human Mutation · 109
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
2024 · Michael T. Parsons, Miguel de la Hoya, et al. · The American Journal of Human Genetics · 103
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
2018 · Raphaël Leman, Pascaline Gaildrat, et al. · Nucleic Acids Research · 102
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Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
2011 · Jean Christophe Théry, Sophie Krieger, et al. · European Journal of Human Genetics · 94
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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
2016 · Miguel de la Hoya, Omar Soukarieh, et al. · Human Molecular Genetics · 90
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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
2016 · Brian N. Harding, Amanda Moccia, et al. · The American Journal of Human Genetics · 77
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Crystal Structure and Nonhomologous End-joining Function of the Ligase Component of Mycobacterium DNA Ligase D
2006 · David Akey, Alexandra Martins, et al. · Journal of Biological Chemistry · 67
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
2017 · Grégoire Davy, Antoine Rousselin, et al. · European Journal of Human Genetics · 60
Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
2013 · Daniela Di Giacomo, Pascaline Gaildrat, et al. · Human Mutation · 56
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Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
2012 · Pascaline Gaildrat, Sophie Krieger, et al. · Journal of Medical Genetics · 53
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
2017 · Benedito Mauro Rossi, Edenir Inêz Palmero, et al. · BMC Cancer · 50
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The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements
2010 · Pascaline Gaildrat, Sophie Krieger, et al. · Journal of Medical Genetics · 47
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
2020 · Raphaël Leman, Hélène Tubeuf, et al. · BMC Genomics · 46
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Characterization of a Baculovirus Enzyme with RNA Ligase, Polynucleotide 5′-Kinase, and Polynucleotide 3′-Phosphatase Activities
2004 · Alexandra Martins, Stewart Shuman · Journal of Biological Chemistry · 44
Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements
2020 · Hélène Tubeuf, Camille Charbonnier, et al. · Human Mutation · 43
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An end-healing enzyme from Clostridium thermocellum with 5′ kinase, 2′,3′ phosphatase, and adenylyltransferase activities
2005 · ALEXANDRA MARTINS, STEWART SHUMAN · RNA · 43
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An RNA Ligase from Deinococcus radiodurans
2004 · Alexandra Martins, Stewart Shuman · Journal of Biological Chemistry · 38
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Works count: 132
Citation count: 3,552
H-index: 31
I10-index: 57
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