Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations

(2011) Kenichiro Yamada et al.   BMC Medical Genetics

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations

(2010) Rabab Debs et al.   ARCHIVES OF NEUROLOGY

Recent Advances in the Genetics of Mitochondrial Encephalopathies

(2010) Elena J. Tucker et al.   Current Neurology and Neuroscience Reports

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

SLC25A19mutation as a cause of neuropathy and bilateral striatal necrosis

(2009) Ronen Spiegel et al.   ANNALS OF NEUROLOGY

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

(2009) E. Quintana et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Mutations in a Thiamine-Transporter Gene and Wernicke's-like Encephalopathy

(2009) Satoshi Kono et al.   NEW ENGLAND JOURNAL OF MEDICINE

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH