Next-generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver Failure

Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome

(2010) D. Dimmock et al.   CLINICAL CHEMISTRY

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Recessive twinkle mutations cause severe epileptic encephalopathy

(2009) T. Lonnqvist et al.   BRAIN

Intravenous N-Acetylcysteine Improves Transplant-Free Survival in Early Stage Non-Acetaminophen Acute Liver Failure

(2009) William M. Lee et al.   GASTROENTEROLOGY

Pattern of Diagnostic Evaluation for the Causes of Pediatric Acute Liver Failure: An Opportunity for Quality Improvement

(2009) Michael R. Narkewicz et al.   JOURNAL OF PEDIATRICS

Liver transplantation cost in the model for end-stage liver disease era: Looking beyond the transplant admission

(2009) Paula Buchanan et al.   LIVER TRANSPLANTATION

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

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

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

SRD5B1gene analysis needed for the accurate diagnosis of primary 3-oxo-Δ4-steroid 5β-reductase deficiency

(2008) Isao Ueki et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

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

Parallel tagged sequencing on the 454 platform

(2008) Matthias Meyer et al.   Nature Protocols