Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding consensus in portal hypertension

(2015) Roberto de Franchis   JOURNAL OF HEPATOLOGY

Idiopathic non-cirrhotic portal hypertension: a review

(2015) Jeoffrey NL Schouten et al.   Orphanet Journal of Rare Diseases

Down-regulation of mitochondrial thymidine kinase 2 and deoxyguanosine kinase by didanosine: Implication for mitochondrial toxicities of anti-HIV nucleoside analogs

(2014) Ren Sun et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Sirtuin 3 Deficiency Is Associated with Inhibited Mitochondrial Function and Pulmonary Arterial Hypertension in Rodents and Humans

(2014) Roxane Paulin et al.   Cell Metabolism

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature

(2014) Enke Grabhorn et al.   LIVER TRANSPLANTATION

Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data

(2013) B. L. Browning et al.   GENETICS

Hepatoportal Sclerosis in Childhood: Descriptive Analysis of 12 Patients

(2013) Mustafa Serdar Cantez et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

(2013) Mathieu Lemaire et al.   NATURE GENETICS

Mitochondria in Vascular Health and Disease

(2012) Peter Dromparis et al.   Annual Review of Physiology

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Idiopathic noncirrhotic portal hypertension

(2011) Jeoffrey N.L. Schouten et al.   HEPATOLOGY

Hepatoportal Sclerosis in Childhood: Some Presenting with Cholestatic Features (a Re-Evaluation of 12 Children)

(2011) Guldal Yilmaz et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Noncirrhotic portal hypertension in HIV infection

(2010) Eugenia Vispo et al.   CURRENT OPINION IN INFECTIOUS DISEASES

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Association of Noncirrhotic Portal Hypertension in HIV‐Infected Persons and Antiretroviral Therapy with Didanosine: A Nested Case‐Control Study

(2009) Helen Kovari et al.   CLINICAL INFECTIOUS DISEASES

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Portal Hypertension and Its Complications

(2008) Arun J. Sanyal et al.   GASTROENTEROLOGY

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

(2008) David P. Dimmock et al.   LIVER TRANSPLANTATION