A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments

(2017) Maurizio Pacifici   Current Osteoporosis Reports

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

(2016) Daichi Ishimaru et al.   BMC GENETICS

Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses

(2016) Diana L. Cousminer et al.   BONE

Genotype imputation in the domestic dog

(2016) S. G. Friedenberg et al.   MAMMALIAN GENOME

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

(2016) Susan Akbaroghli et al.   Therapeutics and Clinical Risk Management

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

(2015) GEORGE A. TANTELES et al.   JOURNAL OF GENETICS

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

(2014) Aleksander Jamsheer et al.   JOURNAL OF APPLIED GENETICS

Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application

(2013) Md. Ferdous Anower-E-Khuda et al.   GLYCOBIOLOGY

Cell biology of osteochondromas: Bone morphogenic protein signalling and heparan sulphates

(2013) Araceli Cuellar et al.   INTERNATIONAL ORTHOPAEDICS

Heparan sulfate as a regulator of endochondral ossification and osteochondroma development

(2013) Katja Jochmann et al.   MATRIX BIOLOGY

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

(2010) Károly Szuhai et al.   HUMAN MUTATION

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

(2009) Ivy Jennes et al.   HUMAN MUTATION

Multiple osteochondromas

(2008) Judith VMG Bovée   Orphanet Journal of Rare Diseases