InheritedCHST11/MIR3922deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

Misleading results from saliva samples of patients post-BMT in exome analyses

(2014) C. A. Valencia et al.   BLOOD

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins

(2014) Michael Yourshaw et al.   BRIEFINGS IN BIOINFORMATICS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Avoiding pitfalls in bone marrow engraftment analysis: a case study highlighting the weakness of using buccal cells for determining a patient's constitutional genotype after hematopoietic stem cell transplantation

(2013) Hanna Rennert et al.   CYTOTHERAPY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome

(2012) Michael Klüppel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Glycotranscriptome study reveals an enzymatic switch modulating glycosaminoglycan synthesis during B-cell development and activation

(2011) Sophie Duchez et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

(2011) Robert E Handsaker et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Human Bone Marrow-Derived Stem Cells Acquire Epithelial Characteristics through Fusion with Gastrointestinal Epithelial Cells

(2011) Jonathan Ferrand et al.   PLoS One

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

(2010) Sheila Unger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Proteoglycans in health and disease: novel roles for proteoglycans in malignancy and their pharmacological targeting

(2010) Achilleas D. Theocharis et al.   FEBS Journal

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

(2010) A. McKenna et al.   GENOME RESEARCH

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

(2009) Munis Dündar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

DIANA-microT web server: elucidating microRNA functions through target prediction

(2009) M. Maragkakis et al.   NUCLEIC ACIDS RESEARCH

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE