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

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

(2011) Lisenka E.L.M. Vissers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

(2011) M Fernanda Amary et al.   JOURNAL OF PATHOLOGY

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

(2011) Ekkehart Lausch et al.   NATURE GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

2-Hydroxyglutarate Production, but Not Dominant Negative Function, Is Conferred by Glioma-Derived NADP+-Dependent Isocitrate Dehydrogenase Mutations

(2011) Genglin Jin et al.   PLoS One

Profiling the effects of isocitrate dehydrogenase 1 and 2 mutations on the cellular metabolome

(2011) Z. J. Reitman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hypoxia, HIFs and bone development

(2010) Elisa Araldi et al.   BONE

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Metabolism, Gliomas, andIDH1

(2010) Jan Smeitink   NEW ENGLAND JOURNAL OF MEDICINE

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

(2010) M. Kranendijk et al.   SCIENCE

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

(2009) Ana Belinda Campos-Xavier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

Glioma-Derived Mutations in IDH1 Dominantly Inhibit IDH1 Catalytic Activity and Induce HIF-1 

(2009) S. Zhao et al.   SCIENCE