Nigel Burrows

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical presentation, management and outcomes in the Acute Heart Failure Global Survey of Standard Treatment (ALARM-HF)

Ferenc Folláth, Juan F. Delgado, John Parissis et al. · Intensive Care Medicine · 2011 · 293 citations

Medicine, Cardiology, Internal Medicine +16

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Harlequin Ichthyosis

Shefali Rajpopat, Celia Moss, Jemima E. Mellerio et al. · Archives of Dermatology · 2011 · 199 citations

Life Sciences, Genetics, Molecular Genetics +16