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New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn, Marielle E; Ceccherini, Isabella; Shinar, Yael; Carbo, Ellen C; Slofstra, Mariska; Arostegui, Juan I; Sarrabay, Guillaume; Rowczenio, Dorota; Omoyimni, Ebun; Balci-Peynircioglu, Banu; Hoffman, Hal M; Milhavet, Florian; Swertz, Morris A; Touitou, Isabelle.
Affiliation
  • Van Gijn ME; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Ceccherini I; UOC Medical Genetics, Giannina Gaslini Institute, Genova, Italy.
  • Shinar Y; Laboratory of FMF, Amyloidosis and Rare Autoinflammatory Diseases, Sheba Medical Center, Tel Hashomer, Israel.
  • Carbo EC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Slofstra M; Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Arostegui JI; Department of Immunology, Hospital Clinic-IDIBAPS, Barcelona, Spain.
  • Sarrabay G; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier University, INSERM U1183, Montpellier, France.
  • Rowczenio D; National Amyloidosis Centre, Division of Medicine, UCL, Royal Free Hospital, London, UK.
  • Omoyimni E; Great Ormond Street Institute of Child Health (ICH), University College London, London, UK.
  • Balci-Peynircioglu B; Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Hoffman HM; Department of Pediatrics, University of California, San Diego, California, USA.
  • Milhavet F; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier University, INSERM U1183, Montpellier, France.
  • Swertz MA; Genomics Coordination Center, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Touitou I; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier University, INSERM U1183, Montpellier, France.
J Med Genet ; 55(8): 530-537, 2018 08.
Article in En | MEDLINE | ID: mdl-29599418
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetic Predisposition to Disease / Hereditary Autoinflammatory Diseases / Genetic Association Studies / Workflow Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2018 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genetic Predisposition to Disease / Hereditary Autoinflammatory Diseases / Genetic Association Studies / Workflow Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2018 Document type: Article Affiliation country: