Your browser doesn't support javascript.
loading
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; Vissers, Lisenka E L M; de Voer, Richarda; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou, Anastasios; Corvó, Alberto; Joshi, Ricky; Diez, Hector; Gut, Ivo; Hoischen, Alexander; Graessner, Holm; Beltran, Sergi.
Affiliation
  • Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Hernández-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
  • Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
  • Töpf A; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Vissers LELM; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • de Voer R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Picó D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Garcia-Linares C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Corvó A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Joshi R; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Diez H; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Gut I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Hoischen A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Graessner H; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
  • Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
Eur J Hum Genet ; 29(9): 1337-1347, 2021 09.
Article in En | MEDLINE | ID: mdl-34075210
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Software / Genetic Testing / Genomics / Rare Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Software / Genetic Testing / Genomics / Rare Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: