Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients

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

Life Sciences, Genetics, Molecular Genetics +17

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ISCEV Standard for full-field clinical electroretinography (2015 update)

Daphne L. McCulloch, Michael F. Marmor, Mitchell Brigell et al. · Documenta Ophthalmologica · 2014 · 1.3K citations · Full text

Medicine, Biomedical Engineering, Bioinstrumentation +5

ISCEV Standard for full-field clinical electroretinography (2008 update)

Michael F. Marmor, Anne B. Fulton, Graham E. Holder et al. · Documenta Ophthalmologica · 2008 · 1K citations · Full text

Medicine, Biomedical Engineering, Clinical Vision Science +4

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

Anren Li, Xiaodong Jiao, Francis L. Munier et al. · The American Journal of Human Genetics · 2004 · 288 citations · Full text

Life Sciences, Dermatology, Genetics +7