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Sami H. Wali
Observed names:
S WALI,
S Wali,
S. Wali,
Sami Wali,
Wali, Sami
Institution:
Riyadh Armed Forces Hospital
Observed institutions:
Riyadh Armed Forces Hospital,
National University
OpenAlex ID:
A5110276582
Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families
2008
·
Sandra S. Strautnieks
, Jane A. Byrne
, et al.
·
Gastroenterology
·
390
PDF
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
2004
·
Paul Gissen
, Colin A Johnson
, et al.
·
Nature Genetics
·
348
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
2019
·
Dorota Monies
, Mohammed Abouelhoda
, et al.
·
The American Journal of Human Genetics
·
295
PDF
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
2010
·
Ludmila Pawlikowska
, Sandra Strautnieks
, et al.
·
Journal of Hepatology
·
206
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
2018
·
Sateesh Maddirevula
, Hamoud Alhebbi
, et al.
·
Genetics in Medicine
·
126
PDF
In search of triallelism in Bardet–Biedl syndrome
2012
·
Leen Abu-Safieh
, Shamsa Al-Anazi
, et al.
·
European Journal of Human Genetics
·
126
PDF
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
2017
·
Ahmed Alfares
, Majid Alfadhel
, et al.
·
Molecular Genetics and Metabolism
·
100
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
2020
·
Sateesh Maddirevula
, Hiroyuki Kuwahara
, et al.
·
Genome biology
·
92
PDF
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies
2018
·
Laura N. Bull
, Ludmila Pawlikowska
, et al.
·
Hepatology Communications
·
82
PDF
Incidence of Pediatric Inflammatory Bowel Disease in Saudi Arabia
2014
·
Mohammad I. El Mouzan
, Omar Saadah
, et al.
·
Inflammatory Bowel Diseases
·
69
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin
2020
·
Hamoud Alhebbi
, Abdul Ali Peer-Zada
, et al.
·
Journal of Human Genetics
·
45
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
2019
·
Dorota Monies
, Mohammed Abouelhoda
, et al.
·
The American Journal of Human Genetics
·
45
PDF
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
2023
·
Lama AlAbdi
, Sateesh Maddirevula
, et al.
·
Nature Communications
·
43
PDF
Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis
2003
·
A Bassas
, M Chehab
, et al.
·
Transplantation Proceedings
·
28
Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms
2021
·
Duc-Hung Pham
, Ramesh Kudira
, et al.
·
Gastroenterology
·
25
The Epidemiology and Outcome of Biliary Atresia: Saudi Arabian National Study (2000–2018)
2022
·
Abdulrahman Al-Hussaini
, Mohammed Abanemai
, et al.
·
Frontiers in Pediatrics
·
23
PDF
Hepatocellular carcinoma, syncytial giant cell: a novel variant in children: a case report
2007
·
A. Atra
, R. Al-Asiri
, et al.
·
Annals of Diagnostic Pathology
·
16
Living‐related liver transplantation for Crigler–Najjar syndrome in Saudi Arabia
2002
·
Haider Al Shurafa
, Sami Wali
, et al.
·
Clinical Transplantation
·
13
One hundred and thirty-seven living donor pediatric liver transplants at Riyadh Military Hospital. Results and outlook for future
2009
·
Iftikhar Khan
, Mohammad A. Al-Shaqrani
, et al.
·
Saudi Medical Journal
·
10
PDF
Management of Crigler-Najjar Syndrome type I
2001
·
Haider A. Al-Shurafa
, Atef F. Bassas
, et al.
·
Saudi Medical Journal
·
10
PDF
Pediatric living-related liver transplantation in Saudi Arabia
2002
·
Afef F. Bassas
, Mona S. Al-Shahed
, et al.
·
Saudi Medical Journal
·
7
PDF
Critical residues in the multidrug resistance 3 protein gene associated with adult onset cholangiopathy and intrahepatic cholestasis of pregnancy.
2002
·
Sandra Strautnieks
, Alberto Lopes
, et al.
·
Research Portal (King's College London)
·
7
Mutations in MDR3 in adult-onset cholangiopathy
2003
·
G Paumgartner
, Dietrich Keppler
, et al.
·
6
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
2024
·
Scott Barish
, Sheng-Jia Lin
, et al.
·
The American Journal of Human Genetics
·
5
Donor experience and outcome of pediatric living-related liver transplantation in Saudi Arabia
2003
·
Haider Al-Shurafa
, Muaffak Jawdat
, et al.
·
Journal of Hepato-Biliary-Pancreatic Surgery
·
4
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Works count:
42
Citation count:
2,132
H-index:
16
I10-index:
20
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