A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate‐pair sequencing

Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

(2018) Umut Aypar et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

(2015) Scott Newman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of δ-catenin function in severe autism

(2015) Tychele N. Turner et al.   NATURE

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication ofCTNND2

(2014) Jennifer M. Sardina et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing

(2013) Sebastiaan van Heesch et al.   BMC GENOMICS

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

(2013) Sarah Vergult et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE