Alexandra Martins

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 9

Top Topics

Acute Myeloid Leukemia

Gene Expression

High Throughput Sequencing

Top Venues

Cancer research

Scientific reports

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Waddington Achatz, Christine B Ambrosone, Paraskevi Apostolou, Banu K Arun, Paul L Auer, Mollie E Barnard, Birgitte Bertelsen, null null, Marinus J Blok, Nicholas J Boddicker, Joan Brunet, Elizabeth S Burnside, Mariarosaria Calvello, Ian G Campbell, Sock Hoai Chan, Fei Chen, Jian Bang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, null null, Kim De Leeneer, Robin de Putter, Allison DePersia, Lisa Devereux, Susan M Domchek, Anna Efremidis, Christoph Engel, Corinna Ernst, Dafydd Gareth Evans, Lidia Feliubadaló, Florentia Fostira, Olivia Fuentes-Ríos, Encarna B Gómez-García, Sara González, Christopher A Haiman, Thomas Van Overeem Hansen, Jan Hauke, James M Hodge, Chunling Hu, Hongyan Huang, Nur Diana Binte Ishak, Yusuke Iwasaki, Irene Konstantopoulou, Peter Kraft, James V Lacey, Conxi Lazaro Garcia, Na Li, Weng Khong Lim, Sara Lindström, Adriana Lori, María Elena Martínez, Alexandra Martins, Koichi Matsuda, Giuseppe Matullo, Simone McInerny, Kyriaki Michailidou, Marco Montagna, Alvaro N A Monteiro, Luigi Mori, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Janet E Olson, Julie R Palmer, Barbara Pasini, Alpa V Patel, Maria Piane, Bruce Poppe, Paolo Radice, Alessandra Renieri, Nicoletta Resta, Marcy E Richardson, Toon Rosseel, Kathryn J Ruddy, Marta Santamariña, Elizabeth Santana Dos Santos, Lauren R Teras, Amanda Ewart Toland, Amy Trentham-Dietz, Celine M Vachon, Alexander E Volk, Nana Weber-Lassalle, Jeffrey N Weitzel, Lisa Wiesmuller, Stacey J Winham, Siddhartha Yadav, Drakoulis Yannoukakos, Song Yao, Valentina Zampiga, Magnus Zethoven, Ze Wen Zhang, Tomáš Zima, Amanda B Spurdle, Ana Vega, Maria Rossing, Jesús Del Valle, Arcangela De Nicolo, Eric Hahnen, Kathleen B M Claes, Joanne Ngeow Yuen Yie, Yukihide Momozawa, Paul A James, Fergus J Couch, Libor Macůrek, Zdenek Kleibl
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. Clinical cancer research : an official journal of the American Association for Cancer Research (2023)
Monika Morak, Marta Pineda, Alexandra Martins, Pascaline Gaildrat, Hélène Tubeuf, Aurélie Drouet, Carolina Gómez, Estela Dámaso, Kerstin Schaefer, Verena Steinke-Lange, Udo Koehler, Andreas Laner, Julie Hauchard, Karine Chauris, Elke Holinski-Feder, Gabriel Capellá Munar
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group. European journal of human genetics : EJHG 30 (9) (2022)
Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, Gaia Castelain, Audrey Killian, Julie Hauchard, Thierry Frebourg, Florence Coulet, Alexandra Martins, Martine Muleris, Pascaline Gaildrat
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations. Journal of medical genetics (2022)
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud-Bataille, Sandrine M Caputo, Virginie Caux-Moncoutier, Nadia Boutry-Kryza, Françoise Bonnet-Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T Parsons, Amanda B Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. Human mutation (2022)
Cécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex, Omar Soukarieh, Jean-Baptiste Arnoux, Julien Buratti, Delphine Bouvet, Thierry Frébourg, Pascaline Gaildrat, Show-Ling Shyng, Christine Bellanné-Chantelot, Alexandra Martins
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism. Human mutation 42 (4) (2021)
Tamara Alejandra Piñero, Omar Soukarieh, Marion Rolain, Karin Alvarez, Francisco López-Köstner, Giovana Tardin Torrezan, Dirce Maria Carraro, Ivana Lucia De Oliveira Nascimento, Thaís Ferreira Bomfim, Taísa Manuela Bonfim Machado-Lopes, Juliana Côrtes Freitas, Maria Betânia Toralles, Kiyoko Abe Sandes, Benedito Mauro Rossi, Samuel Aguiar Junior, Joanna Goes Castro Meira, Mev Dominguez-Valentin, Pål Møller, Carlos Alberto Vaccaro, Alexandra Martins, Walter Hernán Pavicic
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing. Familial cancer 19 (4) (2021)
Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre, Hélène Dauchel, Thierry Frebourg, Pascaline Gaildrat, Alexandra Martins
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements. Human mutation 41 (10) (2020)
Hélène Tubeuf, Sandrine M Caputo, Teresa Sullivan, Julie Rondeaux, Sophie Krieger, Virginie Caux-Moncoutier, Julie Hauchard, Gaia Castelain, Alice Fiévet, Laëtitia Meulemans, Françoise Révillion, Mélanie Léoné, Nadia Boutry-Kryza, Capucine Delnatte, Marine Guillaud-Bataille, Linda Cleveland, Susan Reid, Eileen Southon, Omar Soukarieh, Aurélie Drouet, Daniela Di Giacomo, Myriam Vezain, Françoise Bonnet-Dorion, Violaine Bourdon, Hélène Larbre, Danièle Muller, Pascal Pujol, Fátima Vaz, Séverine Audebert-Bellanger, Chrystelle Colas, Laurence Venat Bouvet, Angela R Solano, Dominique Stoppat-Lyonnet, Claude Houdayer, Thierry Frebourg, Pascaline Gaildrat, Shyam K Sharan, Alexandra Martins
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System. Cancer research 80 (17) (2020)
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Arild Holth, Gabriel Capella, Ben Davidson, D Gareth Evans, Alexandra Martins, Pål Møller, Eivind Hovig
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing. Scientific reports 9 (1) (2019)