Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

(2015) Craig F. Munns et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

(2015) Kelly L. Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum

(2015) Joachim Kuhn et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Proteoglycan form and function: A comprehensive nomenclature of proteoglycans

(2015) Renato V. Iozzo et al.   MATRIX BIOLOGY

XYLT1 Mutations in Desbuquois Dysplasia Type 2

(2014) Catherine Bui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

(2014) François Cartault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MOSAIK: A Hash-Based Algorithm for Accurate Next-Generation Sequencing Short-Read Mapping

(2014) Wan-Ping Lee et al.   PLoS One

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

(2013) Masahiro Nakajima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

(2013) Fransiska Malfait et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length

(2013) Emily K. Mis et al.   DEVELOPMENTAL BIOLOGY

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

(2013) Julia Schreml et al.   HUMAN GENETICS

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH