De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Autor: Rodger C; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK., Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Allison RJ; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK., Sanchis-Juan A; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge CB2 0XY, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK., Hasenahuer MA; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK; European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK., Cecchetti S; Microscopy Area, Core Facilities, Istituto Superiore di Sanità, Rome 00161, Italy., French CE; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK., Edgar JR; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK., Carpentieri G; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Onesimo R; Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy., Zampino G; Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy; Università Cattolica del Sacro Cuore, Rome 00168, Italy., Marcon F; Unit of Mechanisms, Biomarkers and Models, Department of Environment and Health, Istituto Superiore di Sanità, Rome 00161, Italy., Siniscalchi E; Unit of Mechanisms, Biomarkers and Models, Department of Environment and Health, Istituto Superiore di Sanità, Rome 00161, Italy., Lees M; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK., Krishnakumar D; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., McCann E; Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool L8 7SS, UK., Yosifova D; Department of Medical Genetics, Guys' and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Jarvis J; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK., Kruer MC; Phoenix Children's Hospital, Phoenix, AZ 76109, USA., Marks W; Cook Children's Medical Centre, Fort Worth, TX 76104, USA., Campbell J; Colchester Hospital, East Suffolk and North Essex NHS Foundation Trust, Essex CO4 5JL, UK., Allen LE; Ophthalmology Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Gustincich S; Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova 16163, Italy; Area of Neuroscience, SISSA, Trieste 34136, Italy., Raymond FL; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net., Reid E; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK. Electronic address: ealr4@cam.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1129-1148. Date of Electronic Publication: 2020 Nov 12.

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Autor: Scheps KG; Departamento de Microbiología, Inmunología, Biotecnología y Genética, Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.; Instituto de Inmunología, Genética y Metabolismo (INIGEM), Universidad de Buenos Aires - CONICET, Buenos Aires, Argentina., Hasenahuer MA; Departamento de Ciencia y Tecnología, Universidad Nacional de Quilmes, Bernal, Argentina.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, United Kingdom.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Parisi G; Departamento de Ciencia y Tecnología, Universidad Nacional de Quilmes, Bernal, Argentina., Targovnik HM; Departamento de Microbiología, Inmunología, Biotecnología y Genética, Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.; Instituto de Inmunología, Genética y Metabolismo (INIGEM), Universidad de Buenos Aires - CONICET, Buenos Aires, Argentina., Fornasari MS; Departamento de Ciencia y Tecnología, Universidad Nacional de Quilmes, Bernal, Argentina.

Publikováno v: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 81-102. Date of Electronic Publication: 2019 Oct 14.

Dynamics fingerprints of active conformers of epidermal growth factor receptor kinase.

Autor: Barletta GP; Departamento de Ciencia y Tecnologia, Universidad Nacional de Quilmes/CONICET, Roque Saenz Peña 352, B1876BXD, Bernal, Argentina., Hasenahuer MA; Departamento de Ciencia y Tecnologia, Universidad Nacional de Quilmes/CONICET, Roque Saenz Peña 352, B1876BXD, Bernal, Argentina., Fornasari MS; Departamento de Ciencia y Tecnologia, Universidad Nacional de Quilmes/CONICET, Roque Saenz Peña 352, B1876BXD, Bernal, Argentina., Parisi G; Departamento de Ciencia y Tecnologia, Universidad Nacional de Quilmes/CONICET, Roque Saenz Peña 352, B1876BXD, Bernal, Argentina., Fernandez-Alberti S; Departamento de Ciencia y Tecnologia, Universidad Nacional de Quilmes/CONICET, Roque Saenz Peña 352, B1876BXD, Bernal, Argentina.

Publikováno v: Journal of computational chemistry [J Comput Chem] 2018 Nov 05; Vol. 39 (29), pp. 2472-2480. Date of Electronic Publication: 2018 Oct 09.

Correction: Pockets as structural descriptors of EGFR kinase conformations.

Autor: Hasenahuer MA, Barletta GP, Fernandez-Alberti S, Parisi G, Fornasari MS

Publikováno v: PloS one [PLoS One] 2018 Feb 08; Vol. 13 (2), pp. e0192815. Date of Electronic Publication: 2018 Feb 08 (Print Publication: 2018).

Second ISCB Latin American Student Council Symposium (LA-SCS) 2016.

Autor: Monzon AM; Structural Bioinformatics Group, Departamento de Ciencia y Tecnología, Universidad Nacional de Quilmes, Buenos Aires, B1876BXD, Argentina., Hasenahuer MA; Structural Bioinformatics Group, Departamento de Ciencia y Tecnología, Universidad Nacional de Quilmes, Buenos Aires, B1876BXD, Argentina., Mancini E; Regulation of Alternative pre-mRNA Splicing during Cell Differentiation, Development and Disease, Centre for Genomic Regulation, Barcelona, Spain., Coimbra N; Department of Bioinformatics, Institute of Biological Sciences, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, 31270-90, Brazil., Cravero F; Chemoinformatics Group, Process Engineering PLAPIQUI (UNS-CONICET), Bahía Blanca, 8000, Argentina., Cáceres-Molina J; Laboratorio de Fisiología y Genómica de Frutales, Centro de Biotecnología Vegetal (CBV), Universidad Andrés Bello, Santiago, Chile., Ramírez-Sarmiento CA; Institute for Biological and Medical Engineering, Schools of Engineering, Medicine and Biological Sciences, Pontificia Universidad Católica de Chile, Santiago, Chile., Palopoli N; Structural Bioinformatics Group, Departamento de Ciencia y Tecnología, Universidad Nacional de Quilmes, Buenos Aires, B1876BXD, Argentina.; Structural Bioinformatics Unit, Fundación Instituto Leloir, IIBBA-CONICET, Buenos Aires, C1405BWE, Argentina., Meysman P; Biomedical Informatics Research Center Antwerp (biomina), University of Antwerp, Antwerp, 2000, Belgium.; Advanced Database Research and Modelling (ADReM), Department of Mathematics and Computer Science, University of Antwerp, Antwerp, 2000, Belgium., Parra RG; Quantitative and Computational Biology Group, Max Planck Institute for Biophysical Chemistry, Göttingen, 37077, Germany.

Publikováno v: F1000Research [F1000Res] 2017 Aug 16; Vol. 6. Date of Electronic Publication: 2017 Aug 16 (Print Publication: 2017).