Published in Hepatology on March 31, 2016
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A (2016) 0.78
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
Expanding consensus in portal hypertension: Report of the Baveno VI Consensus Workshop: Stratifying risk and individualizing care for portal hypertension. J Hepatol (2015) 4.91
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
Association of noncirrhotic portal hypertension in HIV-infected persons and antiretroviral therapy with didanosine: a nested case-control study. Clin Infect Dis (2009) 2.78
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet (2001) 2.71
Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics (2013) 2.26
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet (2015) 2.22
Idiopathic noncirrhotic portal hypertension. Hepatology (2011) 2.05
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr (2007) 1.54
Portal hypertension and its complications. Gastroenterology (2008) 1.50
Fatal portal hypertension, liver failure, and mitochondrial dysfunction after HIV-1 nucleoside analogue-induced hepatitis and lactic acidaemia. Lancet (2001) 1.33
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat (2008) 1.27
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain (2012) 1.16
Mitochondria in vascular health and disease. Annu Rev Physiol (2012) 1.08
Sirtuin 3 deficiency is associated with inhibited mitochondrial function and pulmonary arterial hypertension in rodents and humans. Cell Metab (2014) 1.08
Structural basis for substrate specificities of cellular deoxyribonucleoside kinases. Nat Struct Biol (2001) 1.07
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl (2008) 1.00
Idiopathic non-cirrhotic portal hypertension: a review. Orphanet J Rare Dis (2015) 0.93
Alcohol-induced hepatomegaly: pathogenesis and role in the production of portal hypertension. Fed Proc (1982) 0.90
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. Biochem J (2007) 0.90
Non-fatal acute fatty liver of pregnancy. Gut (1983) 0.87
Noncirrhotic portal hypertension in HIV infection. Curr Opin Infect Dis (2011) 0.84
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. Liver Transpl (2014) 0.83
Hepatoportal sclerosis in childhood: descriptive analysis of 12 patients. J Korean Med Sci (2013) 0.82
Down-regulation of mitochondrial thymidine kinase 2 and deoxyguanosine kinase by didanosine: implication for mitochondrial toxicities of anti-HIV nucleoside analogs. Biochem Biophys Res Commun (2014) 0.80
Hepatoportal sclerosis in childhood: some presenting with cholestatic features (a re-evaluation of 12 children). Pediatr Dev Pathol (2011) 0.80
Didanosine Exposure and Noncirrhotic Portal Hypertension in a HIV Clinic in North America: a Follow-up Study. Br J Med Med Res (2011) 0.80
Liver failure after long-term nucleoside antiretroviral therapy. Lancet (2001) 0.78