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    • Research Interests
    Whole Exome Sequenci...Whole Exome SequencingNeuromuscular Juncti...Neuromuscular JunctionGene ExpressionHuman GeneticsCongenital Myastheni...Congenital Myasthenic Syndrome202020152025
    20122024

    Papers共 86 篇Author StatisticsCo-AuthorSimilar Experts

    By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
    时间
    引用量
    主题
    期刊级别
    合作者
    合作机构
    All20252024202320222021202020192018201720162015201420132012
    Dominant Rhabdomyolysis Linked to a Recurrent ATP2A2 Variant Reducing SERCA2 Function in Muscle
    Sivasankar Malaichamy, Romane Idoux，Ivo Barić,Hanns Lochmüller
    Brain a journal of neurology (2025)
    Cited0Views1WOSBibtex
    0
    1
    Unravelling Undiagnosed Rare Disease Cases by HiFi Long-Read Genome Sequencing
    Wouter Steyaert,Lydia Sagath，Alexander Hoischen, Solve-RD consortium
    Genome research (2025)
    Cited0Views47WOSBibtex
    0
    47
    Applicability of Breast Cancer 313 Polygenic Risk Score (PRS313) in the Spanish Region of Navarra
    Edurne Urrutia-Lafuente, Ane Miren Sagardia, Maria Miranda Perez, David Cobos Hermosa, Elena Hualde,Leslie Matalonga,Oscar Teijido Hermida,David Gomez Cabrero,Angel Alonso Sanchez
    EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 307-307
    Cited0Views0Bibtex
    0
    0
    Load More
    Author Statistics
    00.20.40.60.81#Papers#CitationH-IndexG-IndexSociabilityDiversityActivity

    #Papers: 86

    #Citation: 590

    H-Index: 15

    G-Index: 23

    Sociability: 7

    Diversity: 2

    Activity: 15

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    • 合作者
    • 学生
    • 导师
    Sergi Beltran合作论文数
    Departament de Genètica, Universitat de Barcelona43
    S. Laurie合作论文数
    Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST),38
    Horvath Rita合作论文数
    24
    Hanns Lochmüller合作论文数
    CHEO Research Institute;Faculty of Medicine, University of Ottawa;Department of Medicine, Division of Neurology, The Ottawa Hospital23
    Davide Piscia合作论文数
    22
    Rachel Thompson合作论文数
    Institute of Genetic Medicine, Newcastle University21
    Ana Topf合作论文数
    Faculty of Medical Sciences, Newcastle University;Translational and Clinical Research Institute, Newcastle University;International Centre for Life, Newcastle University16
    Peter Robinson合作论文数
    The Jackson Laboratory for Genomic Medicine;Institute for Human and Medical Genetics, Charité - Universitätsmedizin Berlin;Berlin Institute of Health14
    Antonia Ribes合作论文数
    14
    Olaf Rieß合作论文数
    Institute of Medical Genetics and Applied Genomics, Universitätsklinikum Tübingen14
    Holm Graessner合作论文数
    13
    Matthis Synofzik合作论文数
    Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research;German Center for Neurodegenerative Diseases;Universitätsklinikum Tübingen;University College London13
    Kiran Polavarapu合作论文数
    12
    Patrick Chinnery合作论文数
    Department of Clinical Neurosciences, University of Cambridge;Cambridge Biomedical Research Centre, NIHR12
    Katherine Schon合作论文数
    (Cambridge, United Kingdom).11
    Gisele Bonne合作论文数
    INSERM, Sorbonne Univ11
    Alfons Macaya合作论文数
    Centre de Resonancia Nuclear Magnètica11
    H. Graessner合作论文数
    10
    Ida Paramonov合作论文数
    10
    Leigh Christin Carmody合作论文数
    Chemical Biology Platform, Broad Institute of MIT and Harvard10
    L.E.L.M. Vissers (Lisenka)合作论文数
    Radboudumc;Radboud University10
    A. Hoischen (Alexander)合作论文数
    Radboud Universiteit;Radboudumc10
    Christian Gilissen合作论文数
    Department of Human Genetics, UMC St. Radboud Nijmegen10
    Carles Hernandez合作论文数
    Center for Research in Environmental Epidemiology (CREAL), Doctor Aiguader 88, 08003, Barcelona, Spain. chernandez@creal.cat.9
    Evangelista Teresinha合作论文数
    8
    Cristina Jou合作论文数
    8
    Katja Lohmann合作论文数
    8
    Frederic Tort合作论文数
    7
    Corvo Alberto合作论文数
    CNAG CRG Centre for Genomic Regulation, CRG Barcelona Institute of Science and Technology7
    B Fontaine合作论文数
    7
    Richarda de Voer合作论文数
    7
    Antonio Vitobello合作论文数
    Novartis Research Foundation, Friedrich Miescher Institute for Biomedical Research7
    B. Zurek合作论文数
    7
    Carlos Ignacio Ortez González合作论文数
    Neuromuscular Unit, Hospital Sant Joan de Déu Barcelona;Universitat de Barcelona7
    A. Corvo合作论文数
    6
    Anastasios Papakonstantinou合作论文数
    6
    Matthew J Jennings合作论文数
    Department of Clinical Neurosciences, University of Cambridge6
    Raul Tonda合作论文数
    Barcelona Inst Sci & Technol BIST, Univ Pompeu Fabra6
    Kleefstra Tjitske合作论文数
    6
    Marco Savarese合作论文数
    Telethon Institute of Genetics and Medicine;Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli;Telethon Institute of Genetics and Medicine, Seconda Università di Napoli6
    Judit Garcia-Villoria合作论文数
    6
    Jonathan Baets合作论文数
    Institute Born-Bunge, University of Antwerp6
    Kornelia Ellwanger合作论文数
    6
    Rebecca Schule合作论文数
    Department of Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University6
    Rabah Ben Yaou合作论文数
    6
    Antonio Atalaia合作论文数
    6
    Francesc Palau合作论文数
    5
    I. Gut合作论文数
    5
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