Novel cases of D-2-hydroxyglutaric aciduria withIDH1orIDH2mosaic mutations identified by amplicon deep sequencing

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

(2013) Benjamin Nota et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation

(2012) Peppi Koivunen et al.   NATURE

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

(2011) Lisenka E.L.M. Vissers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo

(2011) Linda B. C. Bralten et al.   ANNALS OF NEUROLOGY

Glioma cells showing IDH1 mutation cannot be propagated in standard cell culture conditions

(2011) S Piaskowski et al.   BRITISH JOURNAL OF CANCER

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

(2011) Kim De Leeneer et al.   HUMAN MUTATION

Diagnostic Testing for IDH1 and IDH2 Variants in Acute Myeloid Leukemia

(2011) Keyur P. Patel et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2

(2011) M Fernanda Amary et al.   NATURE GENETICS

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

(2011) Twinkal C Pansuriya et al.   NATURE GENETICS

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

(2010) Patrick S. Ward et al.   CANCER CELL

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

(2010) Wei Qin et al.   HUMAN GENETICS

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

(2010) M. Kranendijk et al.   SCIENCE

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

(2008) D. W. Parsons et al.   SCIENCE