Sami Wali

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

Sandra Strautnieks, Jane A. Byrne, Ludmila Pawlikowska et al. · Gastroenterology · 2008 · 373 citations · Full text

Biliary Tract, Genetic Disorder, Genetics +6

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Paul Gissen, Colin A. Johnson, Neil V. Morgan et al. · Nature Genetics · 2004 · 339 citations · Full text

Arthrogryposis–renal Dysfunction–cholestasis, Renal Pathology, Pathology +6

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 276 citations · Full text

Sequencing, Next-generation Sequencing, Genetics +8

Differences in presentation and progression between severe FIC1 and BSEP deficiencies

Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska et al. · Journal of Hepatology · 2010 · 197 citations · Full text

Clinical Disorders, Bsep Deficiencies, Disease Progression +5

In search of triallelism in Bardet–Biedl syndrome

Leen Abu‐Safieh, Shamsa Al-Anazi, Lama AlAbdi et al. · European Journal of Human Genetics · 2012 · 123 citations · Full text

Genetic Disorder, Inherited Metabolic Disease, Pathology +3