Henrik Arnell

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Sandra Strautnieks, Laura N. Bull, Alexander S. Knisely et al. · Nature Genetics · 1998 · 999 citations

Medicine, Genetics, Molecular Genetics +13

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

A. S. Knisely, Sandra Strautnieks, Yvonne Meier et al. · Hepatology · 2006 · 379 citations

Medicine, Molecular Genetics, Pediatrics +17

Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

Sandra Strautnieks, Jane A. Byrne, Ludmila Pawlikowska et al. · Gastroenterology · 2008 · 378 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial

Richard J. Thompson, Henrik Arnell, Reha Artan et al. · ˜The œLancet. Gastroenterology & hepatology · 2022 · 173 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +17