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; Ceccherini, Isabella; Shinar, Yael; Carbo, Ellen; Slofstra, Mariska; Arostegui, Juan; Sarrabay, Guillaume; Rowczenio, Dorota; Omoyimni, Ebun; Balci-Peynircioglu, BANU; Hoffman, Hal; Milhavet, Florian; Swertz, Morris; Touitou, Isabelle

doi:10.1136/jmedgenet-2017-105216

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 M. E., Ceccherini I., Shinar Y., Carbo E. C., Slofstra M., Arostegui J. I., ...Daha Fazla

Journal of medical genetics, cilt.55, sa.8, ss.530-537, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 55 Sayı: 8
Basım Tarihi: 2018
Doi Numarası: 10.1136/jmedgenet-2017-105216
Dergi Adı: Journal of medical genetics
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.530-537
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

Background Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing.