Kathelijne Peerlinck

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

Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders

Flora Peyvandi, Roberta Palla, Marzia Menegatti et al. · Journal of Thrombosis and Haemostasis · 2012 · 498 citations · Full text

Medicine, Clinical Sciences, Hematology +15

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Efficacy, safety, and pharmacokinetics of emicizumab prophylaxis given every 4 weeks in people with haemophilia A (HAVEN 4): a multicentre, open-label, non-randomised phase 3 study

Steven W. Pipe, Midori Shima, Michaela Lehle et al. · The Lancet Haematology · 2019 · 385 citations · Full text

Medicine, Pharmacokinetics, Pharmacology +5

Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B

Steven W. Pipe, Frank W.G. Leebeek, Michael Recht et al. · New England Journal of Medicine · 2023 · 343 citations · Full text

Medicine, Hematology, Molecular Medicine +16