Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities

SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors

(2010) Rodrigo Goya et al.   BIOINFORMATICS

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering

(2010) Changsoo Kang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics

(2009) Sandra Pohl et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Compensatory expression of human N-Acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma

(2009) Sandra Pohl et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Molecular analysis of theGNPTABandGNPTGgenes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

(2009) M Encarnação et al.   CLINICAL GENETICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Comparative Pathology of Murine Mucolipidosis Types II and IIIC

(2009) P. Vogel et al.   VETERINARY PATHOLOGY

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

(2008) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis

(2008) Bertrand Isidor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

(2008) Emanuele Persichetti et al.   HUMAN MUTATION