Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism

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

Improved survival after variceal bleeding in patients with cirrhosis over the past two decades

Nicolas Carbonell, Arnaud Pauwels, Lawrence Serfaty et al. · Hepatology · 2004 · 850 citations · Full text

Medicine, Internal Medicine, Gastroenterology +13

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

Laura N. Bull, Michiel J. T. van Eijk, Ludmila Pawlikowska et al. · Nature Genetics · 1998 · 738 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Mutations in TJP2 cause progressive cholestatic liver disease

Melissa Sambrotta, Sandra Strautnieks, Efterpi Papouli et al. · Nature Genetics · 2014 · 293 citations · Full text

Medicine, Genetics, Molecular Genetics +9