Sami A. Wali

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 15 publications

Hodgkin lymphoma of the ampulla of Vater: A rare cause of obstructive jaundice in children.

Hodgkin lymphoma of the ampulla of Vater: A rare cause of obstructive jaundice in children.

Journal: JPGN reports

Published: May 29, 2025

Predictors of biliary atresia outcome: Saudi National Study (2000 - 2018).

Predictors of biliary atresia outcome: Saudi National Study (2000 - 2018).

Journal: Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association

Published: October 03, 2023

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Journal: American journal of human genetics

Published: May 28, 2023

Clinical and laboratory features of biliary atresia and patterns of management practices: Saudi national study (2000-2018).

Clinical and laboratory features of biliary atresia and patterns of management practices: Saudi national study (2000-2018).

Journal: Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association

Published: April 12, 2023

The Epidemiology and Outcome of Biliary Atresia: Saudi Arabian National Study (2000-2018).

The Epidemiology and Outcome of Biliary Atresia: Saudi Arabian National Study (2000-2018).

Journal: Frontiers in pediatrics

Published: April 16, 2022

Percutaneous endoscopic gastrostomy in children: A single center experience in Saudi Arabia.

Percutaneous endoscopic gastrostomy in children: A single center experience in Saudi Arabia.

Journal: Saudi medical journal

Published: October 11, 2020

Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.

Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.

Journal: Gastroenterology

Published: July 29, 2020

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

Journal: Journal of human genetics

Published: March 25, 2020

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Journal: Genome biology

Published: October 10, 2019

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

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

Journal: American journal of human genetics

Published: October 05, 2019

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

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

Journal: American journal of human genetics

Published: December 19, 2018

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 27, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026