Wali, Sami

Top Publications

Top Publications Authored or Co-Authored by "Wali, Sami"

• Differences in presentation and progression between severe FIC1 and BSEP deficiencies

  Journal of Hepatology, Volume 53, No. 1, Year 2010, Citations 185
• Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

  Nature Communications, Volume 14, No. 1, Article 5269, Year 2023, Citations 68
• A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

  Molecular Genetics and Metabolism, Volume 121, No. 2, Year 2017, Citations 60
• Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies

  Hepatology Communications, Volume 2, No. 5, Year 2018, Citations 47
• Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

  Gastroenterology, Volume 134, No. 4, Year 2008, Citations 30