Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria

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 UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft, Colin Freeman, Desislava Petkova et al. · Nature · 2018 · 9.7K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

Bingshan Li, Suzanne M. Leal · The American Journal of Human Genetics · 2008 · 1.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 881 citations

Life Sciences, Genetics, Molecular Genetics +14

Regulation of Mitochondrial Iron Import through Differential Turnover of Mitoferrin 1 and Mitoferrin 2

Prasad N. Paradkar, Kimberley B. Zumbrennen, Barry H. Paw et al. · Molecular and Cellular Biology · 2008 · 365 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16