De novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment C Rodger, E Flex, RJ Allison, A Sanchis-Juan, MA Hasenahuer, ... The American Journal of Human Genetics 107 (6), 1129-1148, 2020 | 51 | 2020 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods Genome biology 25 (1), 53, 2024 | 31 | 2024 |
Pockets as structural descriptors of EGFR kinase conformations MA Hasenahuer, GP Barletta, S Fernandez-Alberti, G Parisi, MS Fornasari PLoS One 12 (12), e0189147, 2017 | 24 | 2017 |
Highlights from the 1st ISCB latin american student council symposium 2014 RG Parra, FL Simonetti, MA Hasenahuer, GJ Olguin-Orellana, ... BMC bioinformatics 16, 1-4, 2015 | 20 | 2015 |
Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis KG Scheps, MA Hasenahuer, G Parisi, HM Targovnik, MS Fornasari Human Mutation 41 (1), 81-102, 2020 | 12 | 2020 |
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate A Sanchis‐Juan, MA Hasenahuer, JA Baker, A McTague, K Barwick, ... Molecular genetics & genomic medicine 8 (7), e1106, 2020 | 11 | 2020 |
Bioinformatics calls the school: Use of smartphones to introduce Python for bioinformatics in high schools AJ Velez Rueda, GI Benítez, J Marchetti, MA Hasenahuer, MS Fornasari, ... PLoS computational biology 15 (2), e1006473, 2019 | 8 | 2019 |
Second iscb latin american student council symposium (la-scs) 2016 AM Monzon, MA Hasenahuer, E Mancini, N Coimbra, F Cravero, ... F1000Research 6, ISCB Comm J-1491, 2017 | 7 | 2017 |
Two novel unstable hemoglobin variants due to in‐frame deletions of key amino acids in the β‐globin chain KG Scheps, MA Hasenahuer, G Parisi, HM Targovnik, E García, ES Veber, ... European Journal of Haematology 100 (6), 529-535, 2018 | 6 | 2018 |
Highlights of the 1st Argentine Symposium of Young Bioinformatics Researchers (1SAJIB) organized by the ISCB RSG-Argentina RG Parra, LA Defelipe, AB Guzovsky, A Monzón, F Cravero, E Mancini, ... PeerJ, 2016 | 6 | 2016 |
Twenty‐One Novel EGFR Kinase Domain variants in Patients with Nonsmall Cell Lung Cancer MA Hasenahuer, G Parisi, M Gautier, A Lazarowski, GF Bramuglia, ... Annals of Human Genetics 79 (6), 385-393, 2015 | 5 | 2015 |
Hb Wilde and Hb Patagonia: two novel elongated beta‐globin variants causing dominant beta‐thalassemia KG Scheps, MA Hasenahuer, G Parisi, MS Fornasari, SP Pennesi, ... European journal of haematology 94 (6), 498-503, 2015 | 5 | 2015 |
Dynamics fingerprints of active conformers of epidermal growth factor receptor kinase GP Barletta, MA Hasenahuer, MS Fornasari, G Parisi, ... Journal of Computational Chemistry 39 (29), 2472-2480, 2018 | 4 | 2018 |
Mapping the Constrained Coding Regions in the human genome to their corresponding proteins MA Hasenahuer, A Sanchis-Juan, RA Laskowski, JA Baker, ... Journal of Molecular Biology 435 (2), 167892, 2023 | 1 | 2023 |
Correction: Pockets as structural descriptors of EGFR kinase conformations MA Hasenahuer, GP Barletta, S Fernandez-Alberti, G Parisi, MS Fornasari Plos one 13 (2), e0192815, 2018 | 1 | 2018 |
Highlights from the 1st ISCB latin american student council symposium 2014 R Gonzalo Parra, FL Simonetti, MA Hasenahuer, GJ Olguin-Orellana, ... BMC BIOINFORMATICS 16, 2015 | 1 | 2015 |
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic … S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult, S Repo, AH Roger, ... Genome Biology 22 (22; 25 (1): 53.), 1-46, 2024 | | 2024 |
Pockets as structural descriptors of EGFR kinase conformations (vol 12, e0189147, 2017) MA Hasenahuer, GP Barletta, S Fernandez-Alberti, G Parisi, MS Fornasari PLOS ONE 13 (2), 2018 | | 2018 |
Dynamics fingerprints of active conformers of epidermal growth factor receptor kinase PG Barletta Roldan, MA Hasenahuer, MS Fornasari, GD Parisi, ... John Wiley & Sons Inc., 2018 | | 2018 |
PID 6088 Estudio de la influencia de las hormonas tiroideas en el control de los sistemas de adhesión cadherinas-cateninas durante el desarrollo de vertebrados CD Galetto, JED Zamboni, JF Adur, NB Vicente, D Larrea, MV Bessone, ... Ciencia, Docencia y Tecnología Suplemento 4 (4), 142-172, 2014 | | 2014 |