All Stories

  1. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

    Article • Molecular Genetics & Genomic Medicine, May 2017, Wiley

    Alexandra Martins

  2. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Article • The American Journal of Human Genetics, July 2016, Elsevier

    Alexandra Martins

  3. Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

    Article • PLoS Genetics, April 2016, PLOS

    Alexandra Martins

  4. 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

    Article • Human Molecular Genetics, March 2016, Oxford University Press (OUP)

    Alexandra Martins

  5. Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

    Article • PLoS Genetics, January 2016, PLOS

    Alexandra Martins

  6. A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

    Article • Clinical Genetics, July 2014, Wiley

    Alexandra Martins

  7. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Article • Nature Genetics, December 2013, Springer Science + Business Media

    Dr Juul T Wijnen, Alexandra Martins

  8. 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

    Article • Human Mutation, September 2013, Wiley

    Alexandra Martins

  9. Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

    Article • Journal of Medical Genetics, September 2012, BMJ

    Alexandra Martins

  10. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

    Article • Human Mutation, August 2011, Wiley

    Alexandra Martins

  11. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

    Article • European Journal of Human Genetics, June 2011, Nature

    Alexandra Martins

  12. The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

    Article • Journal of Medical Genetics, June 2010, BMJ

    Alexandra Martins

  13. Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants

    Article • January 2010, Springer Science + Business Media

    Alexandra Martins

  14. A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

    Article • Human Mutation, January 2010, Wiley

    Alexandra Martins

  15. A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

    Article • Human Mutation, December 2008, Wiley

    Alexandra Martins

  16. 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

    Article • Journal of Medical Genetics, May 2008, BMJ

    Alexandra Martins

  17. Crystal Structure of the Ligase Domain from M. tuberculosis LigD at 2.4A

    Article • February 2006, Protein Data Bank, Rutgers University

    Alexandra Martins

  18. Crystal Structure and Nonhomologous End-joining Function of the Ligase Component of Mycobacterium DNA Ligase D

    Article • Journal of Biological Chemistry, February 2006, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Michael S Glickman, Alexandra Martins

  19. Mechanism of nonhomologous end-joining in mycobacteria: a low-fidelity repair system driven by Ku, ligase D and ligase C

    Article • Nature Structural & Molecular Biology, March 2005, Springer Science + Business Media

    Dr Michael S Glickman, Alexandra Martins

  20. Crystal structure of baculovirus RNA 5'-phosphatase complexed with phosphate

    Article • February 2005, Protein Data Bank, Rutgers University

    Alexandra Martins

  21. Crystal Structure of Baculovirus RNA Triphosphatase Complexed with Phosphate

    Article • Journal of Biological Chemistry, February 2005, American Society for Biochemistry & Molecular Biology (ASBMB)

    Alexandra Martins

  22. An RNA Ligase from Deinococcus radiodurans

    Article • Journal of Biological Chemistry, August 2004, American Society for Biochemistry & Molecular Biology (ASBMB)

    Alexandra Martins

  23. Biochemical and Genetic Analysis of the Four DNA Ligases of Mycobacteria

    Article • Journal of Biological Chemistry, February 2004, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Michael S Glickman, Alexandra Martins

  24. Characterization of a Baculovirus Enzyme with RNA Ligase, Polynucleotide 5′-Kinase, and Polynucleotide 3′-Phosphatase Activities

    Article • Journal of Biological Chemistry, January 2004, American Society for Biochemistry & Molecular Biology (ASBMB)

    Alexandra Martins

  25. Structure-Function Analysis of Trypanosoma brucei RNA Triphosphatase and Evidence for a Two-metal Mechanism

    Article • Journal of Biological Chemistry, October 2003, American Society for Biochemistry & Molecular Biology (ASBMB)

    Alexandra Martins

  26. Mapping the triphosphatase active site of baculovirus mRNA capping enzyme LEF4 and evidence for a two-metal mechanism

    Article • Nucleic Acids Research, March 2003, Oxford University Press (OUP)

    Alexandra Martins

  27. The Domain Order of Mammalian Capping Enzyme Can Be Inverted and Baculovirus Phosphatase Can Function in Cap Formation in Vivo

    Article • Virology, December 2002, Elsevier

    Alexandra Martins

  28. Mutational Analysis of Baculovirus Phosphatase Identifies Structural Residues Important for Triphosphatase Activity in Vitro and in Vivo †

    Article • Biochemistry, November 2002, American Chemical Society (ACS)

    Alexandra Martins

  29. Mutational Analysis of Baculovirus Capping Enzyme Lef4 Delineates an Autonomous Triphosphatase Domain and Structural Determinants of Divalent Cation Specificity

    Article • Journal of Biological Chemistry, September 2001, American Society for Biochemistry & Molecular Biology (ASBMB)

    Alexandra Martins

  30. CRYSTAL STRUCTURE OF THE OXIDIZED RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME

    Article • May 2001, Protein Data Bank, Rutgers University

    Alexandra Martins

  31. CRYSTAL STRUCTURE OF THE RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME

    Article • May 2001, Protein Data Bank, Rutgers University

    Alexandra Martins

  32. Mechanism of Phosphoanhydride Cleavage by Baculovirus Phosphatase

    Article • Journal of Biological Chemistry, August 2000, American Society for Biochemistry & Molecular Biology (ASBMB)

    Alexandra Martins

  33. A Yeast-Based Genetic System for Functional Analysis of Viral mRNA Capping Enzymes

    Article • Journal of Virology, June 2000, ASM Journals

    Alexandra Martins

  34. Genetic identification and nucleotide sequence of the DNA polymerase gene of African swine fever virus

    Article • Nucleic Acids Research, January 1994, Oxford University Press (OUP)

    Alexandra Martins