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Autor:
Aguirre S; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, 08028, Spain., Pappa S; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, 08028, Spain., Serna-Pujol N; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, 08028, Spain., Padilla N; Vall d'Hebron Institute of Research (VHIR), Passeig de la Vall d'Hebron, 119, E-08035, Barcelona, Spain., Iacobucci S; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, 08028, Spain., Nacht AS; Center for Genomic Regulation (CRG), Barcelona Institute for Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Vicent GP; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, 08028, Spain., Jordan A; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, 08028, Spain., de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Passeig de la Vall d'Hebron, 119, E-08035, Barcelona, Spain.; Institut Català per la Recerca i Estudis Avançats (ICREA), Barcelona, 08018, Spain., Martínez-Balbás MA; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, 08028, Spain. mmbbmc@ibmb.csic.es.
Publikováno v:
EMBO reports [EMBO Rep] 2024 Aug; Vol. 25 (8), pp. 3486-3505. Date of Electronic Publication: 2024 Jun 18.
Autor:
Ozkan S; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Padilla N; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., de la Cruz X; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain. xavier.delacruz@vhir.org.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. xavier.delacruz@vhir.org.
Publikováno v:
Human genetics [Hum Genet] 2024 Jul 24. Date of Electronic Publication: 2024 Jul 24.
Autor:
Jain S; The Institute for Experiential AI, Northeastern University, Boston, MA, USA.; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Trinidad M; Innovative Genomics Institute, University of California, Berkeley, Berkeley, CA, USA.; Howard Hughes Medical Institute, University of California, Berkeley, Berkeley, CA, USA., Nguyen TB; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia., Jones K; Tuskegee University, Tuskegee, AL, USA., Neto SD; Universidad Nacional de Rosario, Rosario, Argentina., Ge F; State Key Laboratory of Organic Electronics and Information Displays & Institute of Advanced Materials (IAM), Nanjing University of Posts & Telecommunications, Nanjing, China., Glagovsky A; National University of Tucuman, Tucuman, Argentina., Jones C; Tuskegee University, Tuskegee, AL, USA., Moran G; University of Puerto Rico, San Juan, PR, USA., Wang B; Department of Bioinformatics and System Biology, University of California, San Diego, La Jolla, CA, USA., Rahimi K; Department of Computational Biology, School of Life Sciences, Ochanomizu University, Tokyo, Japan., Çalıcı SZ; Department of Genomics, Faculty of Aquatic Science, Istanbul University, Istanbul, Türkiye., Cedillo LR; University of Texas at El Paso, El Paso, USA., Berardelli S; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.; enGenome srl, Pavia, Italy., Özden B; Program of Molecular Biotechnology and Genetics, Institute of Science, Istanbul University, Istanbul, Türkiye., Chen K; University of California, Berkeley, Berkeley, CA, USA., Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Williams A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rana S; TCS Research, India., Pradhan S; TCS Research, India., Srinivasan R; TCS Research, India., Sajeed R; TCS Research, India., Joshi D; TCS Research, India., Faraggi E; Research and Information Systems LLC, Indianapolis, IN, USA.; Physics Department, Indiana University-Purdue University, Indianapolis, IN, USA., Jernigan R; Roy J. Carver Department of Biochemistry, Iowa State University, Ames, IA, USA., Kloczkowski A; Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA., Xu J; University of California, Berkeley, Berkeley, CA, USA., Song Z; Peking University, Beijing, China., Özkan S; Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain., Padilla N; Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain., de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.; Universitat Autònoma de Barcelona, Barcelona, Spain.; Institucío Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Acuna-Hidalgo R; Nostos Genomics GmbH, Berlin, Germany., Grafmüller A; Nostos Genomics GmbH, Berlin, Germany., Jiménez Barrón LT; Nostos Genomics GmbH, Berlin, Germany., Manfredi M; Biocomputing Group, University of Bologna, Bologna, Italy., Savojardo C; Biocomputing Group, University of Bologna, Bologna, Italy., Babbi G; Biocomputing Group, University of Bologna, Bologna, Italy., Martelli PL; Biocomputing Group, University of Bologna, Bologna, Italy., Casadio R; Biocomputing Group, University of Bologna, Bologna, Italy., Sun Y; Department of Electrical & Computer Engineering, Texas A&M University, College Station, TX, USA., Zhu S; Department of Electrical & Computer Engineering, Texas A&M University, College Station, TX, USA., Shen Y; Department of Electrical & Computer Engineering, Texas A&M University, College Station, TX, USA., Pucci F; Computational Biology and Bioinformatics, Université Libre de Bruxelles, Bruxelles, Belgium., Rooman M; Computational Biology and Bioinformatics, Université Libre de Bruxelles, Bruxelles, Belgium., Cia G; Computational Biology and Bioinformatics, Université Libre de Bruxelles, Bruxelles, Belgium., Raimondi D; ESAT-STADIUS, Katholieke Universiteit Leuven, Leuven, Belgium., Hermans P; Computational Biology and Bioinformatics, Université Libre de Bruxelles, Bruxelles, Belgium., Kwee S; University of California, Berkeley, Berkeley, CA, USA., Chen E; University of California, Berkeley, Berkeley, CA, USA., Astore C; San Diego, CA, USA., Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ramola R; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Velyunskiy M; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Zeiberg D; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Mishra R; Department of Bioengineering, University of California, Berkeley, CA, USA.; Department of Bioengineering, University of California, San Francisco, CA, USA., Sterling T; San Anselmo, CA, USA., Goldstein JL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Lugo-Martinez J; Ray and Stephanie Lane Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA, USA., Kazi S; Houston, TX, USA., Li S; University of California, Berkeley, Berkeley, CA, USA., Long K; University of California, Berkeley, Berkeley, CA, USA., Brenner SE; University of California, Berkeley, Berkeley, CA, USA., Bakolitsa C; University of California, Berkeley, Berkeley, CA, USA., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Suhr D; MLD Foundation, West Linn, OR, USA., Suhr T; MLD Foundation, West Linn, OR, USA., Clark WT; Greens Fork, IN, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 17. Date of Electronic Publication: 2024 Jun 17.
Akademický článek
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Autor:
Porras LM; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research, Universitat Autònoma de Barcelona, Barcelona, Spain., Padilla N; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research, Universitat Autònoma de Barcelona, Barcelona, Spain., Moles-Fernández A; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Feliubadaló L; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain; Program in Molecular Mechanisms and Experimental Therapy in Oncology, Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain., Santamariña-Pena M; Fundación Pública Galega Medicina Xenómica, Santiago de Compostela, Spain; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de enfermedades Raras, Madrid, Spain., Sánchez AT; Hereditary Cancer Program, Oncobell Program, Catalan Institute of Oncology, Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain., López-Novo A; Fundación Pública Galega Medicina Xenómica, Santiago de Compostela, Spain; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain., Blanco A; Fundación Pública Galega Medicina Xenómica, Santiago de Compostela, Spain; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de enfermedades Raras, Madrid, Spain., de la Hoya M; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Molina IJ; Instituto de Biopatología y Medicina Regenerativa, Universidad de Granada and Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain., Osorio A; Familial Cancer Clinical Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain; Spanish Network on Rare Diseases, Madrid, Spain., Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain; Program in Molecular Mechanisms and Experimental Therapy in Oncology, Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain., Rueda D; Hereditary Cancer Laboratory, 12 de Octubre University Hospital, i+12 Research Institute, Madrid, Spain., Ruiz-Ponte C; Fundación Pública Galega Medicina Xenómica, Santiago de Compostela, Spain; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de enfermedades Raras, Madrid, Spain., Vega A; Fundación Pública Galega Medicina Xenómica, Santiago de Compostela, Spain; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de enfermedades Raras, Madrid, Spain., Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain; Program in Molecular Mechanisms and Experimental Therapy in Oncology, Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain., Díez O; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Area of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Gutiérrez-Enríquez S; Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain. Electronic address: sgutierrez@vhio.net., de la Cruz X; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research, Universitat Autònoma de Barcelona, Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain. Electronic address: xavier.delacruz@vhir.org.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Jan; Vol. 26 (1), pp. 17-28. Date of Electronic Publication: 2023 Oct 19.
Autor:
Aguirre J; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, P/Vall d'Hebron, 119-129, 08035 Barcelona, Spain., Padilla N; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, P/Vall d'Hebron, 119-129, 08035 Barcelona, Spain., Özkan S; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, P/Vall d'Hebron, 119-129, 08035 Barcelona, Spain., Riera C; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, P/Vall d'Hebron, 119-129, 08035 Barcelona, Spain., Feliubadaló L; Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology, 08908 L'Hospitalet de Llobregat, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28929 Madrid, Spain., de la Cruz X; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, P/Vall d'Hebron, 119-129, 08035 Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), 08010 Barcelona, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Jul 24; Vol. 24 (14). Date of Electronic Publication: 2023 Jul 24.
Autor:
Gracia-Diaz C; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Yang Q; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Espana-Bonilla P; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Lee CH; Department of Biomedical Sciences and Pharmacology, Seoul National University, College of Medicine, Seoul, South Korea., Zhang S; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Padilla N; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain., Fueyo R; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Waxman EA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lei S; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Otrimski G; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mark P; Department of Pediatrics, Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Powel C; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Mohammed S; Guy's Hospital, London, UK., Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzaidan H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Turchetti V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Rahman F; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Ibrahim SH; Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., di Rosa G; Child Neuropsychiatry Unit, Department of Pediatrics, University of Messina, Messina, 98100, Italy., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Alharbi MN; Maternity and Children Hospital Buraidah, Qassim Health Cluster, Buraydah, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Bauer P; Centogene GmbH, Rostock, Germany., Zifarelli G; Centogene GmbH, Rostock, Germany., Estaras C; Center for Translational Medicine, Department of Cardiovascular Sciences, Temple University, Philadelphia, PA, USA., Hurst ACE; University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Chassevent A; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks CL; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA., de la Cruz X; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Holtz AM; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, 20877, USA., Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., French DL; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Heller EA; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Saade M; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Song H; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Ming GL; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Agrawal PB; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami School of Medicine and Holtz Children's Hospital, Jackson Heath System, Miami, FL, USA., Reinberg D; HHMI/NYU Langone School of Medicine, New York, NY, USA., Bhoj EJ; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Martínez-Balbás MA; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. aquizun@chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA. aquizun@chop.edu.
Publikováno v:
Nature communications [Nat Commun] 2023 Jul 11; Vol. 14 (1), pp. 4109. Date of Electronic Publication: 2023 Jul 11.
Autor:
Lesueur, F., Easton, D. F., Renault, A. -L., Tavtigian, S. V., Bernstein, J. L., Kote-Jarai, Z., Eeles, R. A., Plaseska-Karanfia, D., Feliubadalo, L., Moles-Fernandez, A., Santamarina-Pena, M., Sanchez, A. T., Lopez-Novo, A., Porras, L. -M., Blanco, A., Capella, G., de la Hoya, M., Molina, I. J., Osorio, A., Pineda, M., Rueda, D., de la Cruz, X., Diez, O., Ruiz-Ponte, C., Gutierrez-Enriquez, S., Vega, A., Lazaro, C., Arun, B., Herold, N., Versmold, B., Schmutzler, R. K., Nguyen-Dumont, T., Southey, M. C., Dorling, L., Dunning, A. M., Ghiorzo, P., Dalmasso, B. S., Cavaciuti, E., Le Gal, D., Roberts, N. J., Dominguez-Valentin, M., Rookus, M., Taylor, A. M. R., Goldstein, A. M., Goldgar, D. E., Couch, F., Kraft, P., Weitzel, J., Nathanson, K., Domchek, S., Laduca, H., Stoppa-Lyonnet, D., Andrieu, N.
Publikováno v:
Fam Cancer
The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated by the fact that germ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f15fec2bfdc6211ab4a9d904d906f28
https://europepmc.org/articles/PMC9969796/
https://europepmc.org/articles/PMC9969796/
Autor:
Olivan M, Garcia-López M, Suárez L, Guiu M, Gros L, Méndez O, Rigau M, Reventós J, Segura MF, de Torres I, Planas J, de la Cruz X, Gomis RR, Morote J, Rodríguez-Barrueco R, Santamaria A
Publikováno v:
Cancers
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
About 70% of advanced-stage prostate cancer (PCa) patients will experience bone metastasis, which severely affects patients' quality of life and progresses to lethal PCa in most cases. Hence, understanding the molecular heterogeneity of PCa cell popu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::a9ddc658342076d32ba80f986d9e54de
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20467
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20467
Autor:
Viñas-Giménez L, Donadeu L, Alsina L, Rincón R, de la Campa EÁ, Esteve-Sole A, Català-Temprano A, Colobran R, de la Cruz X, Sayós J, Martínez-Gallo M
Publikováno v:
INTERNATIONAL JOURNAL OF HEMATOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The presence of mutations in PRF1, UNC13D, STX11 and STXBP2 genes in homozygosis or compound heterozygosis results in immune deregulation. Most such cases lead to clinical manifestations of haemophagocytic lymphohistiocytosis (HLH). In the present st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::df3f99e39651a6b6519663dcf9e0fbc0
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17109
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17109