Concepedia

Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

Ferhat Demir, Özlem Akgün Doğan, Yasemin Kendir Demirkol, Kübra Ermiş Tekkuş, Sezin Canbek, Şerife Gül Karadağ, Hafize Emine Sönmez, Nuray Aktay Ayaz, Levent Doğanay, Betül Sözeri

Clinical Rheumatology · 2020 · 22 citations · 26 references

DOI

Concepts

References

26

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Criteria for the diagnosis of familial mediterranean fever

Avi Livneh, Pnina Langevitz, Deborah Zemer et al. · Arthritis & Rheumatism · 1997 · 1.6K citations

, , +11

Familial Mediterranean Fever (FMF) in Turkey

Turkish FMF Study Group · Medicine · 2005 · 760 citations

, , +7

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson, Martin P. Powers et al. · Genetics in Medicine · 2017 · 759 citations · Full text

, , +15

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch et al. · Genome Medicine · 2019 · 621 citations · Full text

, , +13