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Marcia A. Hasenahuer
Marcia A. Hasenahuer
Dirección de correo verificada de crick.ac.uk
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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
512020
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome biology 25 (1), 53, 2024
312024
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
242017
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
202015
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
122020
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
112020
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
82019
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
72017
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
62018
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
62016
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
52015
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
52015
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
42018
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
12023
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
12018
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
12015
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
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Artículos 1–20